Neuro-Ophthalmologic Manifestations of Systemic and Intracranial Disease

  • Michael C. Brodsky


This chapter provides dedicated discussion on the intracranial disorders of neuro-ophthalmologic consequence in children. An integrated approach to these diseases has emerged from the proliferation of multidisciplinary clinics and programs combining expertise in pediatric neurology, neurosurgery, neuropathology, neuroradiology, neuro-oncology, and neuro-ophthalmology. The molecular and genetic aberrations involved in the pathogenesis of many of these disorders have only recently been elucidated. Refinement in neurosurgical management continues to advance the treatment of these disorders, while preventative and therapeutic measures will arise from molecular genetic research. Advances in neuroimaging have revolutionized the diagnosis of intracranial disease in children, while recent documentation of increased cancer risk in children exposed to multiple computed tomographic (CT) scans has emphasized the need to order diagnostic magnetic resonance (MR) imaging when neuroimaging is warranted [167].


  1. 1.
    Aarsen FK, Arts WFM, Van Veelen-Vincent MLC, et al. Long-term outcome in children with low grade tectal tumours and obstructive hydrocephalus. Eur J Pediatr Neurol. 2014;18:469–74.CrossRefGoogle Scholar
  2. 2.
    Abed E, Piccardi M, Rizzo D, et al. Functional loss of the inner retina in childhood optic gliomas detected by photopic negative response. Invest Ophthalmol Vis Sci. 2015;56(4):2469–74.PubMedCrossRefGoogle Scholar
  3. 3.
    Abouzeid H, Youssef MA, ELShakankirii N, et al. PAX6 aniridia and interhemispheric brain abnormalities. Mol Vis. 2009;15:2074–83.PubMedPubMedCentralGoogle Scholar
  4. 4.
    Abrams LS, Repka MX. Visual outcome of craniopharyngioma in children. J Pediatr Ophthalmol Strabismus. 1997;34:223–8.PubMedGoogle Scholar
  5. 5.
    Abu-Amero KK, Kondkar AA, Alorainy IA, et al. Xq26.3 microdeletion in a male with Wildervanck syndrome. Ophthalmic Genet. 2014;35:18–24.PubMedCrossRefGoogle Scholar
  6. 6.
    Acosta MT, Kardel PG, Walsh KS, et al. Lovastatin as treatment for neurocognitive deficits in neurofibromatosis type 1: phase I study. Pediatr Neurol. 2011;45:241–5.PubMedCrossRefGoogle Scholar
  7. 7.
    Acosta MT, Walsh KS, Kardel PG, et al. Cognitive profiles of neurofibromatosis type 1 patients with minor brain malformations. Pediatr Neurol. 2012;46:231–4.PubMedCrossRefGoogle Scholar
  8. 8.
    Adams-Chapman I, Hansen NI, Stoll BJ, Higgins R. Neurodevelopmental outcome of extremely low birth weight infants with posthemorrhagic hydrocephalus requiring shunt insertion. Pediatrics. 2008;121:31167–77.CrossRefGoogle Scholar
  9. 9.
    Afifi AK, Dolan KD, Van Gilder JC, et al. Ventriculomegaly in neurofibromatosis 1: association with Chiari type 1 malformation. Neurofibromatosis. 1988;1:299–305.PubMedGoogle Scholar
  10. 10.
    Afifi AK, Godersky JC, Menezes A, et al. Cerebral hemiatrophy, hypoplasia of internal carotid and intracranial aneurysm, a rare association occurring in an infant. Arch Neurol. 1987;44:232–5.PubMedCrossRefGoogle Scholar
  11. 11.
    Aicardi J. The lissencephaly syndromes. Int Pediatr. 1989;4:118–26.Google Scholar
  12. 12.
    Aicardi J, Barbosa C, Andermann E, et al. Ataxia-ocular motor apraxia: a syndrome mimicking Ataxia-Telangiectasia. Ann Neurol. 1988;24:497–502.PubMedCrossRefGoogle Scholar
  13. 13.
    Aicardi J, Goutieres F. The syndrome of absence of the septum pellucidum with porencephalies and other developmental defects. Neuropediatrics. 1981;12:319–28.PubMedCrossRefGoogle Scholar
  14. 14.
    Aitken LA, Lindan CE, Sidney S, et al. Chiari type I malformation in a pediatric population. Pediatr Neurol. 2009;40:449–54.PubMedPubMedCentralCrossRefGoogle Scholar
  15. 15.
    Aktas ON, Tihan T. The morphologic and molecular characteristics of pilocytic astrocytomas and the role of the MAPK pathway: what does not kill you makes you stronger. Adv Anat Pathol. 2014;21:144–50.Google Scholar
  16. 16.
    Albernaz VS, Castillo M. Imaging findings in patients with anophthalmos. AJNR Am J Neuroradiol. 1997;18:555–61.PubMedGoogle Scholar
  17. 17.
    Albers FW, Ingels JK. Otoneurological manifestations in Chiari-I malformation. J Laryngol Otol. 1993;107:559–64.CrossRefGoogle Scholar
  18. 18.
    Albright AL. Brain stem gliomas. In: Youmans J, editor. Neurological surgery. Philadelphia: Saunders; 1996. p. 2603–11.Google Scholar
  19. 19.
    Albright AL. Brain tumors in neonates, infants, and toddlers. Contemp Neurosurg. 1985;7:1–6.Google Scholar
  20. 20.
    Albright AL, Guthkelch AN, Packer RJ, et al. Prognostic factors in pediatric brainstem gliomas. J Neurosurg. 1986;65:751–5.PubMedCrossRefGoogle Scholar
  21. 21.
    Aldinger KA, Lehmann OJ, Hudgins L, et al. FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nat Genet. 2009;41:1037–42.PubMedPubMedCentralCrossRefGoogle Scholar
  22. 22.
    Aleksic S, Budzilovich G, Choy A, et al. Congenital ophthalmoplegia in oculoauriculovertebral dysplasia-hemifacial microsomia (Goldenhar-Gorlin syndrome). A clinicopathological study and review of the literature. Neurology. 1976;26:638–44.PubMedCrossRefGoogle Scholar
  23. 23.
    Al-Gazali LI, Donnai D, Berry SA, et al. The oculocerebrocutaneous (Delleman) syndrome. J Med Genet. 1988;25:773–8.PubMedPubMedCentralCrossRefGoogle Scholar
  24. 24.
    Allen J, Chacko J, Donahue B, et al. Diagnostic sensitivity of serum and lumbar CSF bHCG in newly diagnosed CNS germinoma. Pediatr Blood Cancer. 2012;59:1180–2.PubMedPubMedCentralCrossRefGoogle Scholar
  25. 25.
    Almeida L, Anyane-Yeboa K, Grossman M, et al. Myelomeningocele, Arnold-Chiari anomaly and hydrocephalus in focal dermal hypoplasia. Am J Med Genet. 1988;30:917–23.PubMedCrossRefGoogle Scholar
  26. 26.
    Al-Mujaini A, Ganesh A, Al-Zuhaibi S, et al. Lymphocytic infundibulo-neurohypophysitis: an unusual cause of recurrent optic neuropathy in a child. J AAPOS. 2009;13:207–9.PubMedCrossRefGoogle Scholar
  27. 27.
    Alorainy IA, Sabir S, Seidahmed MZ, et al. Brain stem and cerebellar findings in Joubert syndrome. J Comput Assist Tomogr. 2006;30:116–21.PubMedCrossRefGoogle Scholar
  28. 28.
    Alper MG. Management of primary optic nerve meningiomas. Current status-therapy in controversy. J Clin Neuroophthalmol. 1981;1:101–17.PubMedGoogle Scholar
  29. 29.
    Alves C, Acosta AX, Toralles MP. Proteus syndrome: clinical diagnosis of a series of cases. Indian J Endocrinol Metab. 2013;17:1053–611.PubMedPubMedCentralCrossRefGoogle Scholar
  30. 30.
    Amar AP, Aryan HE, Meltzer HS, et al. Neonatal subgaleal hematoma causing brain compression: report of two cases and review of the literature. Neurosurgery. 2003;52:1470–4.PubMedCrossRefGoogle Scholar
  31. 31.
    Ambrose M, Gatti RA. Pathogenesis of ataxia-telangiectasia. Blood. 2013;121:4036–45.PubMedPubMedCentralCrossRefGoogle Scholar
  32. 32.
    Ambrosino MM, Hernanz-Schulman M, Genieser NB, et al. Brain tumors in infants less than a year of age. Pediatr Radiol. 1988;19:6–8.PubMedCrossRefGoogle Scholar
  33. 33.
    Amelot A, Asrhaf A. Resolution of the sunset sign. Pediatr Neurol. 2013;49:383–4.PubMedCrossRefGoogle Scholar
  34. 34.
    Ameri A, Bousser MG. Cerebral venous thrombosis. Neurol Clin. 1992;10:87–111.PubMedGoogle Scholar
  35. 35.
    Ammar A, Al-Sultan A, Al Mulhim F, et al. Empty sella syndrome: does it exist in children? J Neurosurg. 1999;91:960–3.PubMedCrossRefGoogle Scholar
  36. 36.
    Anderson JM, Brodsky MC. Protracted cortical visual loss in a child with ornithine transcarbylase deficiency. J Neuroophthalmol. 2010;30:99–101.PubMedCrossRefGoogle Scholar
  37. 37.
    Andersonn S, Persson E-K, Aring E, et al. Vision in children with hydrocephalus. Dev Med Child Neurol. 2006;48:836–41.CrossRefGoogle Scholar
  38. 38.
    Andriola M, Stolfi J. Sturge-Weber syndrome. Report of an atypical case. Am J Dis Child. 1972;123:507–10.PubMedCrossRefGoogle Scholar
  39. 39.
    Andronikou S, Pillay T, Gauza L, et al. Corpus callosum thickness in children: an MR pattern-recognition approach on the midsagittal image. Pediatr Radiol. 2015;45:258–72.PubMedCrossRefGoogle Scholar
  40. 40.
    Aniskiewicz AS, Frumkin NL, Brady DE, et al. Magnetic resonance imaging and neurobehavioral correlates in schizencephaly. Arch Neurol. 1990;47:911–6.PubMedCrossRefGoogle Scholar
  41. 41.
    Antinheimo J, Sankila R, Carpen O, et al. Population based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas. Neurology. 2000;54:71–6.PubMedCrossRefGoogle Scholar
  42. 42.
    Appenzeller S, Zeller CB, Annichino-Bizzachi JM, et al. Cerebral venous sinus thrombosis: influence of risk factors and imaging findings on prognosis. Clin Neurol Neurosurg. 2005;107:371–8.PubMedCrossRefGoogle Scholar
  43. 43.
    Arai H, Sato K, Wachi A, et al. Arachnoid cysts of the middle cranial fossa: experience with 77 patients who were treated with cystoperitoneal shunting. Neurosurgery. 1996;39:1108–13.PubMedCrossRefGoogle Scholar
  44. 44.
    Arevalo JF, Lasave AF, Arevalo FA, Shields JA. Rhegmatogenous retinal detachment and bilateral optic disc coloboma in organoid nevus syndrome. JAMA Ophthalmol. 2013;131:111–3.PubMedCrossRefGoogle Scholar
  45. 45.
    Aring E, Andersson S, Hård A-L, et al. Strabismus, binocular functions, and ocular motility in children with hydrocephalus. Strabismus. 2007;15:79–88.PubMedCrossRefGoogle Scholar
  46. 46.
    Armstrong L, Jett K, Birch P, et al. The generalized bone phenotype in children with neurofibromatosis 1: a sibling matched case-control study. Am J Med Genet A. 2013;161A:1654–61.PubMedCrossRefGoogle Scholar
  47. 47.
    Arnold A. Bilateral internuclear ophthalmoplegia in a young adult. Presented at the 18th Annual Frank B. Walsh Society Meeting, Seattle, 21–22 Feb 1986.Google Scholar
  48. 48.
    Arnold AC, Baloh RW, Yee RD, et al. Internuclear ophthalmoplegia in the Chiari type II malformation. Neurology. 1990;40:1850–4.PubMedCrossRefGoogle Scholar
  49. 49.
    Arnold AC, Hepler RS, Yee RW, et al. Solitary retinal astrocytoma. Surv Ophthalmol. 1985;30:173–81.PubMedCrossRefGoogle Scholar
  50. 50.
    Arnold RW, Schriever G. Lyme amaurosis in a child. J Pediatr Ophthalmol Strabismus. 1993;30:268–70.PubMedGoogle Scholar
  51. 51.
    Aronow ME, Nakagawa JA, Gupta A, et al. Tuberous sclerosis complex: genotype/phenotype correlation of retinal findings. Ophthalmology. 2012;119:1917–23.PubMedCrossRefGoogle Scholar
  52. 52.
    Arora A, Chowdhury D, Daga MK, et al. Reversible posterior leukoencephalopathy syndrome: a report of two cases. Neurol India. 2001;49:311–3.PubMedGoogle Scholar
  53. 53.
    Arroyo HA, Jan EJ, McCormick AQ, et al. Permanent visual loss after shunt malfunction. Neurology. 1985;35:25–9.PubMedCrossRefGoogle Scholar
  54. 54.
    Arruda MA, Albuquerque RC, Bigal ME. Uncommon headache syndromes in the pediatric population. Curr Pain Headache Rep. 2011;15:280–8.PubMedCrossRefGoogle Scholar
  55. 55.
    Ashker L, Weinstein JM, Dias M, et al. Arachnoid cyst causing third cranial nerve palsy manifesting as isolated internal ophthalmoplegia and iris cholinergic supersensitivity. J Neuroophthalmol. 2008;28:192–7.PubMedCrossRefGoogle Scholar
  56. 56.
    Atebara NH. Retinal capillary hemangioma treated with Verteporfin photodynamic therapy. Am J Ophthalmol. 2002;134:788–90.PubMedCrossRefGoogle Scholar
  57. 57.
    Atkinson A, Sanders MD, Wang V. Vitreous haemorrhage in tuberous sclerosis: report of two cases. Br J Ophthalmol. 1973;57:773–9.PubMedPubMedCentralCrossRefGoogle Scholar
  58. 58.
    Autunes NL, Small TN, George D, et al. Posterior leukoencephalopathy syndrome may not be reversible. Pediatr Neurol. 1999;20:241–3.CrossRefGoogle Scholar
  59. 59.
    Avery RA, Cnaan A, Schuman JS, et al. Intra-and inter-visit reproducibility of ganglion-cell-inner plexiform layer measurements using handheld optical coherence tomography in children with optic pathway gliomas. Am J Ophthalmol. 2014;158:916–23.PubMedPubMedCentralCrossRefGoogle Scholar
  60. 60.
    Avery RA, Hutcheson KA, Acosta MT, et al. Visual outcomes in children with neurofibromatosis type 1 and orbitotemporal plexiform neurofibromas. Am J Ophthalmol. 2013;155:1089–94.PubMedCrossRefGoogle Scholar
  61. 61.
    Avery RA, Hwang EI, Ishikawa H, et al. Handheld optical coherence tomography during sedation in young children with optic pathway gliomas. JAMA Ophthalmol. 2014;132:265–71.PubMedPubMedCentralCrossRefGoogle Scholar
  62. 62.
    Avery RA, Hwang EI, Jakacki RI, Packer RJ. Marked recovery in vision in children with optic pathway gliomas treated with bevicizumab. JAMA Ophthalmol. 2013;132:111–4.CrossRefGoogle Scholar
  63. 63.
    Avery RA, Trimboli-Heidler C, Kilburn LB. Separation of outer retinal layers secondary to Selumetinib. J AAPOS. 2016; in press.Google Scholar
  64. 64.
    Baala L, Briault S, Etchevers HC, et al. Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpous callosum agenesis. Nat Genet. 2007;39:454–6.PubMedCrossRefGoogle Scholar
  65. 65.
    Babcock MA, Kostova FV, Guha A, et al. Tumors of the central nervous system: clinical aspects, molecular mechanisms, unanswered question, and future research directions. J Child Neurol. 2008;23:1103–21.PubMedPubMedCentralCrossRefGoogle Scholar
  66. 66.
    Babovic-Vuksanovic D, Messiaen L, Nagel C, et al. Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive facial and marfanoid habitus: a new syndrome. Eur J Hum Genet. 2012;20:618–25.PubMedPubMedCentralCrossRefGoogle Scholar
  67. 67.
    Baier B, Stoeter P, Dieterich M. Anatomical correlates of ocular motor deficits in cerebellar lesions. Brain. 2009;132:2114–24.PubMedCrossRefGoogle Scholar
  68. 68.
    Bagcchi S. Panobinostat active against diffuse intrinsic pontine glioma. Lancet Oncol. 2015;16:e267.Google Scholar
  69. 69.
    Bagianelli EB, Klingele TG, Burde RM. Acute oculomotor nerve palsy in childhood: is arteriography necessary? J Clin Neuroophthalmol. 1989;9:33–6.Google Scholar
  70. 70.
    Bahi-Buisson N, Guerrini R. Diffuse malformations of cortical development. In: Dulac O, Lassonde M, Sarnat HB, editors. Handbook of clinical neurology, vol. III, part 1. Edinburgh: Elsevier B.V.; 2013.Google Scholar
  71. 71.
    Bahi-Buisson N, Poirier K, Fourniol F, et al. The wide spectrum of tubulinopathies: what are the key features for the diagnosis? Brain. 2014;137:1676–700.PubMedCrossRefGoogle Scholar
  72. 72.
    Balcer LJ, Liu GT, Heller G, et al. Visual prognosis in children with neurofibromatosis type-1 and optic pathway gliomas. Am J Ophthalmol. 2001;131:442–5.PubMedCrossRefGoogle Scholar
  73. 73.
    Baldauf J, Oertel J, Gaab MR, et al. Endoscopic third ventriculostomy in children younger than 2 years of age. Childs Nerv Syst. 2007;23:623–6.PubMedCrossRefGoogle Scholar
  74. 74.
    Balestri P, Vivarelli R, Grosso S, et al. Malformations of cortical development in neurofibromatosis type 1. Neurology. 2003;61:1799–801.PubMedCrossRefGoogle Scholar
  75. 75.
    Balkan R, Hoyt CS. Associated neurologic abnormalities in congenital third nerve palsies. Am J Ophthalmol. 1984;97:315–9.PubMedCrossRefGoogle Scholar
  76. 76.
    Ball BG, Wetmore C, Giannini C, et al. Opticochiasmatic apoplexy in a five-year-old. Pediatr Neurosurg. 2011;47:279–83.PubMedCrossRefGoogle Scholar
  77. 77.
    Baloh RW, Honrubia V, Konrad HR. Periodic alternating nystagmus. Brain. 1976;99:11–26.PubMedCrossRefGoogle Scholar
  78. 78.
    Bang GM, Kirmani S, Patton A, Pulido JS, Brodsky MC. “Ocular moyamoya” syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type II. J AAPOS. 2013;17:100–2.PubMedCrossRefGoogle Scholar
  79. 79.
    Bardelli AM, Hadjistilianou T. Buphthalmos and progressive elephantiasis in neurofibromatosis. A report of three cases. Ophthalmic Paediatr Genet. 1989;10:279–86.PubMedCrossRefGoogle Scholar
  80. 80.
    Barker D, Wright E, Nguyen K, et al. Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science. 1987;236:1100–2.PubMedCrossRefGoogle Scholar
  81. 81.
    Barkovich AJ. Current concepts of polymicrogyria. Neuroradiology. 2010;52:479–84.PubMedPubMedCentralCrossRefGoogle Scholar
  82. 82.
    Barkovich AJ. Developmental disorders of the midbrain and hindbrain. Front Neuroanat. 2012;6:1–10.CrossRefGoogle Scholar
  83. 83.
    Barkovich AJ. Neuroimaging manifestations and classification of congenital muscular dystrophies. AJNR Am J Neuroradiol. 1998;19:1389–96.PubMedGoogle Scholar
  84. 84.
    Barkovich AJ. Neuroimaging of pediatric brain tumors. In: Berger MS, editor. Pediatric neuro-oncology. Philadelphia: WB Saunders; 1992. p. 739–70.Google Scholar
  85. 85.
    Barkovich AJ. Pediatric Neuroimaging. Philadelphia: Lippincott Williams and Wilkins; 2005. p. 231–439.Google Scholar
  86. 86.
    Barkovich AJ, Fram EK, Norman D. Septo-optic dysplasia: MR imaging. Radiology. 1989;171:189–92.PubMedCrossRefGoogle Scholar
  87. 87.
    Barkovich AJ, Gressens P, Evrard P. Formation, maturation, and disorders of brain neocortex. AJNR Am J Neuroradiol. 1992;13:423–46.PubMedGoogle Scholar
  88. 88.
    Barkovich AJ, Hevner R, Guerrini R. Syndromes of bilateral symmetrical polymicrogyria. AJNR Am J Neuroradiol. 1999;20:1814–21.PubMedGoogle Scholar
  89. 89.
    Barkovich AJ, Kjos BO. Gray matter heterotopias: MR characteristics and correlation with developmental and neurological manifestations. Radiology. 1992;182:493–9.PubMedCrossRefGoogle Scholar
  90. 90.
    Barkovich AJ, Kjos BO. Non-lissencephalic cortical dysplasia: correlation of imaging findings with clinical deficits. Am J Neuroradiol. 1992;13:95–103.PubMedGoogle Scholar
  91. 91.
    Barkovich AJ, Kjos BO. Schizencephaly: correlation of clinical findings with MR characteristics. AJNR Am J Neuroradiol. 1992;13:85–94.PubMedGoogle Scholar
  92. 92.
    Barkovich AJ, Koch TK, Carrol CL. The spectrum of lissencephaly: report of ten patients analyzed by magnetic resonance imaging. Ann Neurol. 1997;30:139–46.CrossRefGoogle Scholar
  93. 93.
    Barkovich AJ, Kjos BO, Norman D, et al. Revised classification of posterior fossa cysts and cyst-like malformations based on results of multiplanar MR imaging. AJNR Am J Neuroradiol. 1989;10:977–88.Google Scholar
  94. 94.
    Barkovich AJ, Krischer J, Kun LE, et al. Brain stem gliomas: a classification system based on magnetic resonance imaging. Pediatr Neurosurg. 1991;16:73–83.CrossRefGoogle Scholar
  95. 95.
    Barkovich AJ, Kuziecky RI, Jackson GD, et al. A developmental and genetic classification for malformations of cortical development. Neurology. 2005;65:1873–87.PubMedCrossRefGoogle Scholar
  96. 96.
    Barkovich AJ, Maroldo TV. Magnetic resonance imaging of normal and abnormal brain development. Top Magn Reson Imaging. 1993;5:96–122.PubMedGoogle Scholar
  97. 97.
    Barkovich AJ, Millen KJ, Dobyns WB. A developmental classification of malformations of the brainstem. Ann Neurol. 2007;62:625–39.PubMedCrossRefGoogle Scholar
  98. 98.
    Barkovich AJ, Norman D. Absence of septum pellucidum: a useful sign in the diagnosis of congenital brain malformations. AJNR Am J Neuroradiol. 1988;9:1107–14.Google Scholar
  99. 99.
    Barkovich AJ, Norman D. Anomalies of the corpus callosum: correlation with further anomalies of the brain. AJNR Am J Neuroradiol. 1988;9:493–501.Google Scholar
  100. 100.
    Barkovich AJ, Rowley HA, Bollen A. Correlation of prenatal events with the development of polymicrogyria. Am J Neuroradiol. 1995;16:822–7.PubMedGoogle Scholar
  101. 101.
    Barr D, Kupersmith MJ, Pinto R, et al. Arachnoid cyst of the cavernous sinus resulting in third nerve palsy. J Neuroophthalmol. 1999;19:249–51.PubMedCrossRefGoogle Scholar
  102. 102.
    Barrall JL, Summers CG. Ocular ischemic syndrome in a child with moyamoya disease and neurofibromatosis. Surv Ophthalmol. 1996;40:500–4.PubMedCrossRefGoogle Scholar
  103. 103.
    Barret VJM, Tan MH, Elston JS. Recurrent third nerve palsy as the presenting feature of neurofibromatosis type 2. J Neuroophthalmol. 2012;32:329–31.CrossRefGoogle Scholar
  104. 104.
    Barros-Nunes P, Rivas F. Autosomal recessive congenital stenosis of aqueduct of Sylvius. Genet Couns. 1993;4:19–23.PubMedGoogle Scholar
  105. 105.
    Barsky SH, Rosen S, Geer DE, et al. The nature and evolution of port-wine stains: a computer-assisted study. J Invest Dermatol. 1980;74:154–7.PubMedCrossRefGoogle Scholar
  106. 106.
    Barth PG, Majoie CB, Caan MWA, et al. Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance. Brain. 2007;130:2258–66.PubMedCrossRefGoogle Scholar
  107. 107.
    Bartolomei F, Gavaret M, Dravet C, et al. Familial epilepsy with unilateral and bilateral malformations of cortical development. Epilepsia. 1999;40:47–51.PubMedCrossRefGoogle Scholar
  108. 108.
    Baser ME, Friedman JM, Joe H, et al. Empirical development of improved diagnostic criteria for neurofibromatosis 2. Genet Med. 2011;13:576–81.PubMedCrossRefGoogle Scholar
  109. 109.
    Baser ME, Kuramoto L, Joe H, et al. Genotype-phenotype correlations for nervous system tumors in Neurofibromatosis 2: a population-based study. Am J Hum Genet. 2004;75:231–9.PubMedPubMedCentralCrossRefGoogle Scholar
  110. 110.
    Basson MA, Wingate RJ. Congenital hypoplasia of the cerebellum: developmental causes and behavioral consequences. Front Neuroanat. 2013;7(29):1–13.Google Scholar
  111. 111.
    Bateman GA. Pulse-wave encephalopathy: a comparative study of the hydrodynamics of leukoaraiosis and normal-pressure hydrocephalus. Neuroradiology. 2002;44:740–8.PubMedCrossRefGoogle Scholar
  112. 112.
    Baum JL. Goldenhar’s syndrome. Arch Ophthalmol. 1992;110:750.PubMedCrossRefGoogle Scholar
  113. 113.
    Baum JL, Feingold M. Ocular aspects of Goldenhar’s syndrome. Am J Ophthalmol. 1973;75:250–7.PubMedCrossRefGoogle Scholar
  114. 114.
    Baumas-Duport C. Dysembryoplastic neuroepithelial tumors. Brain Pathol. 1993;3:283–95.CrossRefGoogle Scholar
  115. 115.
    Baumgartner JE, Edwards MS. Pineal tumors. In: Berger MS, editor. Pediatric neuro-oncology. Philadelphia: WB Saunders; 1992. p. 853–62.Google Scholar
  116. 116.
    Becarri S, Cima L, Posenato I, et al. Pediatric optic nerve sheath meningioma. J Neuroophthalmol. 2014;34:315–9.CrossRefGoogle Scholar
  117. 117.
    Beck RW, Greenberg HS. Post-decompression optic neuropathy. J Neurosurg. 1985;63:196–9.PubMedCrossRefGoogle Scholar
  118. 118.
    Beck RW, Hanno R. The phakomatoses. Int Ophthalmol Clin. 1985;25:97.PubMedCrossRefGoogle Scholar
  119. 119.
    Behrens J, Lustig B. The Wnt connection to tumorigenesis. Int J Dev Biol. 2004;48:477–87.PubMedCrossRefGoogle Scholar
  120. 120.
    Bekendam PJ, Bekendam PD. Carotid-cavernous fistula in a child after minimal orbital trauma. J AAPOS. 2004;8:401–3.PubMedCrossRefGoogle Scholar
  121. 121.
    Bell WO, Charney EB, Bruce DA, et al. Symptomatic Arnold-Chiari malformation: review of experience with 22 cases. J Neurosurg. 1987;66:812–8.PubMedCrossRefGoogle Scholar
  122. 122.
    Belloni E, Muenke M, Roessler E, et al. Identification of sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet. 1996;14:353–6.PubMedCrossRefGoogle Scholar
  123. 123.
    Belman A. Neurologic complications of Lyme disease in children. Int Pediatr. 1992;7:136–43.Google Scholar
  124. 124.
    Beltgran-Valero De Bernabe D, Currier S, Steinbrecher A, et al. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet. 2002;71:1033–43.CrossRefGoogle Scholar
  125. 125.
    Beltramello A, Puppini G, Bricolo A, et al. Does the tuberous sclerosis complex include intracranial aneurysms? A case report and review of the literature. Pediatr Radiol. 1999;29:206–11.PubMedCrossRefGoogle Scholar
  126. 126.
    Benarroch EE. Neocortical interactions: functional diversity and clinical correlations. Neurology. 2013;81:273–80.PubMedCrossRefGoogle Scholar
  127. 127.
    Bender BL, Yunis EJ. The pathology of tuberous sclerosis. Pathol Annu. 1982;17:339–82.PubMedGoogle Scholar
  128. 128.
    Berger MS, Edwards MS, LaMasters D, et al. Pediatric brain stem tumors: radiographic, pathological, and clinical correlations. Neurosurgery. 1983;12:298–302.PubMedCrossRefGoogle Scholar
  129. 129.
    Berger L, Gauthier S, Leblanc R. Akinetic mutism and parkinsonism associated with obstructive hydrocephalus. Can J Neurol Sci. 1985;12:255–8.PubMedGoogle Scholar
  130. 130.
    Berger MS, Keles GE, Geyer JR. Cerebral hemispheric tumors of childhood. In: Berger MS, editor. Pediatric neuro-oncology, neurosurgery clinics of North America. Philadelphia: WB Saunders; 1992. p. 839–52.Google Scholar
  131. 131.
    Biesecker L. The challenges of Proteus syndrome: diagnosis and management. Eur J Hum Genet. 2006;14:1151–7.PubMedCrossRefGoogle Scholar
  132. 132.
    Biesecker LG. The multifaceted challenges of Proteus syndrome. JAMA. 2001;285:2240–3.PubMedCrossRefGoogle Scholar
  133. 133.
    Biesecker LG, Peters KF, Darling TN, et al. Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet. 1999;84:389–95.PubMedCrossRefGoogle Scholar
  134. 134.
    Biglan AW. Ophthalmologic complications of meningomyelocele: a longitudinal study. Trans Am Ophthalmol Soc. 1990;88:389–462.PubMedPubMedCentralGoogle Scholar
  135. 135.
    Bilaniuk LT, Molloy PT, Zimmerman RA, et al. Neurofibromatosis type 1: brain stem tumours. Neuroradiology. 1997;39:642–53.PubMedCrossRefGoogle Scholar
  136. 136.
    Bilaniuk LT, Zimmerman RA, Littman P, et al. Computed tomography of brain stem gliomas in children. Radiology. 1980;134:89–95.PubMedCrossRefGoogle Scholar
  137. 137.
    Billingsley RL, Jackson EF, Slopis JM, et al. Functional MRI of visualspatial processing in neurofibromatosis, type 1. Neuropsychologia. 2004;42:395–404.PubMedCrossRefGoogle Scholar
  138. 138.
    Bindal AK, Storrs BB, McLone DG. Management of the Dandy–Walker syndrome. Pediatr Neurosci. 1990–1991;16:163–9.Google Scholar
  139. 139.
    Biousse B, Newman NJ, Petermann SH, et al. Isolated comitant esotropia and Chiari I malformation. Am J Ophthalmol. 2000;130:216–20.PubMedCrossRefGoogle Scholar
  140. 140.
    Biousse V, Tong F, Newman NJ. Cerebral venous thrombosis. Curr Treat Options Cardiovasc Med. 2003;5:181–92.PubMedCrossRefGoogle Scholar
  141. 141.
    Bitoun P, Pipiras E, Rigaudiere F. Congenital macular dystrophy, corpus callosum agenesis, hippocampal hypoplasia—a novel neuro-ophthalmic syndrome: case report. Ophthalmic Genet. 2012;33:39–43.PubMedCrossRefGoogle Scholar
  142. 142.
    Bixenman WW, Laguna JF. Acquired esotropia as initial manifestation of Arnold-Chiari malformation. J Pediatr Ophthalmol Strabismus. 1987;24:83–6.PubMedGoogle Scholar
  143. 143.
    Blair I, Gibson R, Bennett C, et al. Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1. Am J Med Genet. 2002;107:190–6.PubMedCrossRefGoogle Scholar
  144. 144.
    Bloom HJ. Intracranial tumors: response and resistance to therapeutic endeavors. Int J Radiat Oncol Biol Phys. 1982;8:1083–113.PubMedCrossRefGoogle Scholar
  145. 145.
    Boddaert N, Klein O, Ferguson N, et al. Intellectual prognosis of the Dandy-Walker malformation in children: the importance of vermian lobulation. Neuroradiology. 2003;45:320–4.PubMedGoogle Scholar
  146. 146.
    Boesel CP, Paulsen GW, Kosnik EJ, et al. Brain hamartomas and tumors associated with tuberous sclerosis. Neurosurgery. 1979;4:410–7.PubMedCrossRefGoogle Scholar
  147. 147.
    Bolande RP. Neurofibromatosis – the quintessential neurocristopathy: pathogenetic concepts and relationships. Adv Neurol. 1981;29:67–75.PubMedGoogle Scholar
  148. 148.
    Bolduc M-E, Du Plessis AJ, Evans A, et al. Cerebellar malformations alter regional cerebral development. Dev Med Child Neurol. 2011;51:1128–33.CrossRefGoogle Scholar
  149. 149.
    Bolduc M-E, Du Plessis AJ, Sullivan N, et al. Regional cerebellar volumes predict functional outcome in children with cerebellar malformations. Cerebellum. 2012;11:531–42.PubMedCrossRefGoogle Scholar
  150. 150.
    Bolduc M-E, Du Plessis AJ, Sullivan N, et al. Spectrum of neurodevelopmental disabilities in children with cerebellar malformations. Dev Med Child Neurol. 2011;53:409–16.PubMedCrossRefGoogle Scholar
  151. 151.
    Bolduc ME, Limperopoulos C. Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review. Dev Med Child Neurol. 2009;51:256–67.PubMedCrossRefGoogle Scholar
  152. 152.
    Boltshauser E, Schneider J, Kollias S, et al. Vanishing cerebellum in myelomeningocele. Eur J Paediatr Neurol. 2002;6:109–13.PubMedCrossRefGoogle Scholar
  153. 153.
    Bonnet P, Dechaume J, Blanc E. L’anevrysme cirsoide de la retine (Aneuryme recemeux): Ses relations avec l’aneurysme cirsoide de la face et avec l’aneveysme cirsoide du cerveau. J Med Lyon. 1937;18:165–78.Google Scholar
  154. 154.
    Borchert M. Neurocutaneous disorders: five important things to ponder about their clinical manifestations. In: Proceedings of the North American Neuro-Ophthalmology Society Snowmass, 14–18 March 1999.Google Scholar
  155. 155.
    Borgatti R, Triulzi F, Zucca C, et al. Bilateral perisylvian polymicrogyria in three generations. Neurology. 1999;52:1910–3.PubMedCrossRefGoogle Scholar
  156. 156.
    Bosch MM, Boltshauser E, Harpes P, et al. Ophthalmologic findings and long-term course in patients with neurofibromatosis type 2. Am J Ophthalmol. 2006;141:1068–77.PubMedCrossRefGoogle Scholar
  157. 157.
    Bosch MM, Mironov A, Killer HE. Atypical manifestation of neurofibromatosis type 2 in a boy. Eye (Lond). 2005;19:705–6.CrossRefGoogle Scholar
  158. 158.
    Bosch MM, Wichmann WW, Boltshauser E, et al. Optic nerve sheath meningiomas in patients with neurofibromatosis type 2. Arch Ophthalmol. 2006;124:379–85.PubMedCrossRefGoogle Scholar
  159. 159.
    Bothun ED, Kao T, Guo Y, Christiansen SP. Bilateral optic nerve drusen and gliomas in Klippel–Trenaunay–Weber syndrome. J AAPOS. 2011;15:77–9.Google Scholar
  160. 160.
    Bouzas EA, Freidlin V, Parry DM, et al. Lens opacities in neurofibromatosis 2: further significant correlations. Br J Ophthalmol. 1993;77:354–7.PubMedPubMedCentralCrossRefGoogle Scholar
  161. 161.
    Bouzas EA, Krasnewich D, Koutroumanidis M, et al. Ophthalmologic examination in the diagnosis of Proteus syndrome. Ophthalmology. 1993;100:334–8.PubMedCrossRefGoogle Scholar
  162. 162.
    Bouzas EA, Mastorakos G, Chrousos GP, et al. Lisch nodules in Cushing’s disease. Arch Ophthalmol. 1993;111:439–40.PubMedCrossRefGoogle Scholar
  163. 163.
    Braffman BH, Bilaniuk LT, Naidich TP, et al. MR imaging of tuberous sclerosis: pathogenesis of this phakomatosis, use of gadolinium pentetate dimeglumine, and literature review. Radiology. 1992;183:227–38.PubMedCrossRefGoogle Scholar
  164. 164.
    Braffman BH, Zimmerman RA, Trojanowki JQ, et al. The central nervous system manifestations of the phakomatoses on MR. Radiol Clin North Am. 1988;26:773–800.PubMedGoogle Scholar
  165. 165.
    Branco G, Goulao A, Ferro JM. MRI in aqueduct compression and obstructive hydrocephalus due to an ecstatic basilar artery. Neuroradiology. 1993;35:447–8.PubMedCrossRefGoogle Scholar
  166. 166.
    Bratton ML, Hoehn ME, Kerr NC. Residual strabismus following resolution of cranial nerve palsies affecting ocular motility. Presented at the American Academy of Pediatric Ophthalmology and Strabismus, Hyatt Regency, San Francisco, 17–21 April 2009.Google Scholar
  167. 167.
    Breeveld G, de Coo IF, Lequin MH, et al. Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. J Med Genet. 2006;43:490–5.CrossRefGoogle Scholar
  168. 168.
    Brenner DJ, Hall EJ, Phil D. Computed tomography: an increasing source of radiation exposure. N Engl J Med. 2007;357:2277–84.PubMedCrossRefGoogle Scholar
  169. 169.
    Briguglio M, Pinelli L, Giordano L, et al. Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients. Orphanet J Rare Dis. 2011;6:36.PubMedPubMedCentralCrossRefGoogle Scholar
  170. 170.
    Brismar J, Ozand PT. CT and MR of the brain in glutaric acidemia type I: a review of 59 published cases and a report of 5 new patients. AJNR Am J Neuroradiol. 1995;16:675–83.PubMedGoogle Scholar
  171. 171.
    Bristol RE, Albuquerque FC, Spetzler RF, et al. Surgical management of arteriovenous malformations in children. J Neurosurg. 2006;105:88–93.PubMedCrossRefGoogle Scholar
  172. 172.
    Brock S, Dyke CG. Venous and arteriovenous angiomas of the brain: a clinical and roentgenographic study of eight cases. Bull Neurol Inst NY. 1932;2:247–93.Google Scholar
  173. 173.
    Brodsky MC. Circumpapillary choroidal hemorrhoid in Klippel–Trenaunay–Weber syndrome. Br J Ophthalmol. 2007;91:394.Google Scholar
  174. 174.
    Brodsky MC. Hereditary external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation: a congenital fibrosis syndrome caused by deficient innervation to extraocular muscles. Ophthalmology. 1998;105:717–25.PubMedCrossRefGoogle Scholar
  175. 175.
    Brodsky MC. Morning glory disc anomaly or optic disc coloboma? Arch Ophthalmol. 1994;112:153.PubMedCrossRefGoogle Scholar
  176. 176.
    Brodsky MC. Optic nerve hypoplasia with posterior pituitary ectopia: male predominance and nonassociation with breech delivery. Am J Ophthalmol. 1999;127:238–9.PubMedCrossRefGoogle Scholar
  177. 177.
    Brodsky MC. The “pseudo-CSF” signal of orbital optic glioma on magnetic resonance imaging: a signature of neurofibromatosis. Surv Ophthalmol. 1993;38:213–8.PubMedCrossRefGoogle Scholar
  178. 178.
    Brodsky MC. Three dimensions of skew deviation. Br J Ophthalmol. 2003;87:1440–1.PubMedPubMedCentralCrossRefGoogle Scholar
  179. 179.
    Brodsky MC, Atreides S-PA, Fowlkes JL, et al. Optic nerve aplasia in an infant with congenital hypopituitarism and posterior pituitary ectopia. Arch Ophthalmol. 2004;122:125–6.PubMedCrossRefGoogle Scholar
  180. 180.
    Brodsky MC, Boop FA. Fourth ventricular ependymoma in a child with Duane retraction syndrome. Pediatr Neurosurg. 1997;26:157–9.PubMedCrossRefGoogle Scholar
  181. 181.
    Brodsky MC, Boop FA. Lid nystagmus in diffuse ophthalmoplegia as a sign of intrinsic midbrain disease. J Neuroophthalmol. 1995;15:236–40.PubMedGoogle Scholar
  182. 182.
    Brodsky MC, Boop AF. Primary trochlear nerve neoplasm in a child who had clinical signs of NF-1 but was later found to have NF-2. J Pediatr Ophthalmol Strabismus. 1996;33:328–33.PubMedGoogle Scholar
  183. 183.
    Brodsky MC, Conte FA, Taylor D, et al. Sudden death in septo-optic dysplasia. Report of 5 cases. Arch Ophthalmol. 1997;115:66–70.PubMedCrossRefGoogle Scholar
  184. 184.
    Brodsky MC, Fray KJ. Brainstem hypoplasia in the Wildervanck (Cervico-oculo-acoustic) syndrome. Arch Ophthalmol. 1998;116:383–4.PubMedGoogle Scholar
  185. 185.
    Brodsky MC, Glasier CM. Optic nerve hypoplasia: clinical significance of associated central nervous system abnormalities on magnetic resonance imaging. Arch Ophthalmol. 1993;111:66–74.PubMedCrossRefGoogle Scholar
  186. 186.
    Brodsky MC, Harper RA, Keppen LD, et al. Anophthalmia in Delleman syndrome. Am J Med Genet. 1990;37:157–8.PubMedCrossRefGoogle Scholar
  187. 187.
    Brodsky MC, Hoyt WF. Spontaneous involution of retinal and intracranial arteriovenous malformation in Bonnet-Dechaume-Blanc syndrome. Br J Ophthalmol. 2002;86:360–1.PubMedPubMedCentralCrossRefGoogle Scholar
  188. 188.
    Brodsky MC, Hoyt WF, Higashida RT, et al. Bonnet-Dechaume-Blanc syndrome with large facial angioma. Arch Ophthalmol. 1987;105:854–5.PubMedCrossRefGoogle Scholar
  189. 189.
    Brodsky MC, Hoyt WF, Hoyt CS, et al. Atypical retinochoroidal coloboma in patients with dysplastic optic discs and transsphenoidal encephalocele: report of five cases. Arch Ophthalmol. 1995;113:624–8.PubMedCrossRefGoogle Scholar
  190. 190.
    Brodsky MC, Kincannon JM, Nelson-Adesokan P, et al. Oculocerebral dysgenesis in the linear sebaceous nevus syndrome. Ophthalmology. 1997;194:497–503.CrossRefGoogle Scholar
  191. 191.
    Brodsky MC, Landau K, Wilson RS, et al. Morning glory disc anomaly in neurofibromatosis type 2. Arch Ophthalmol. 1999;117:839–41.PubMedCrossRefGoogle Scholar
  192. 192.
    Brodsky MC, Safar AN. Optic disc tuber. Arch Ophthalmol. 2007;125:712–4.CrossRefGoogle Scholar
  193. 193.
    Brodsky MC, Wetjen NM, Keating GF, Koeller KK. Isolated oculomotor palsy in a child caused by an internal carotid artery aneurysm. J AAPOS. 2014;18:515–6.PubMedCrossRefGoogle Scholar
  194. 194.
    Brooks PJ. DNA repair in neural cells: basic science and clinical implications. Mutat Res. 2002;509:93–108.PubMedCrossRefGoogle Scholar
  195. 195.
    Brown SA, Warburton D, Brown LY, et al. Holoprosencephaly due to mutations in ZIC2, a homolog of Drosophila odd-paired. Nat Genet. 1998;20:180–3.PubMedCrossRefGoogle Scholar
  196. 196.
    Bruce DA, Weprin B. The slit-ventricle syndrome. Neurosurg Clin N Am. 2001;36(4):709–17.Google Scholar
  197. 197.
    Brunelli S, Faiella A, Capra V, et al. Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nat Genet. 1996;12:94–6.PubMedCrossRefGoogle Scholar
  198. 198.
    Brusilow SW. Inborn errors of urea synthesis: paradigm of hyperammonemic encephalopathy. In: Berg BO, editor. Principles of child neurology. New York: McGraw-Hill; 1996. p. 979–95.Google Scholar
  199. 199.
    Brzowski AE, Bazan III C, Mumma JV, et al. Spontaneous regression of optic glioma in a patient with neurofibromatosis. Neurology. 1992;42:679–81.PubMedCrossRefGoogle Scholar
  200. 200.
    Buchanan TA, Harper DG, Hoyt WF. Bilateral proptosis, dilatation of conjunctival veins and papilledema: a neuro-ophthalmological syndrome caused by arteriovenous malformation of the torcular herophili. Br J Ophthalmol. 1982;66:186–9.PubMedPubMedCentralCrossRefGoogle Scholar
  201. 201.
    Buchhalter JR, Dichter MA. Migraine/epilepsy syndrome mimicking shunt malfunction in a child with shunted hydrocephalus. J Child Neurol. 1990;5:69–71. Letter.PubMedGoogle Scholar
  202. 202.
    Bullard DE, Crockard A, McDonald WI. Spontaneous cerebrospinal fluid rhinorrhea associated with dysplastic optic discs and a basal encephalocele. J Neurosurg. 1981;54:807–10.PubMedCrossRefGoogle Scholar
  203. 203.
    Burch JV, Leveille AS, Morse PH. Ichthyosis hystrix (epidermal nevus syndrome) and Coat’s disease. Am J Ophthalmol. 1980;89:25–30.PubMedCrossRefGoogle Scholar
  204. 204.
    Burke JP, West NF, Strachan IM. Congenital nystagmus, anisomyopia, and hemimegalencephaly in the Klippel–Trenaunay–Weber syndrome. J Ophthalmol Strabismus. 1991;28:41–4.Google Scholar
  205. 205.
    Burns AJ, Kaplan LC, Mulliken JB. Is there an association between hemangioma and syndromes with dysmorphic features? Pediatrics. 1991;88:1527.Google Scholar
  206. 206.
    Burrows PE, Robertson RL, Mulliken JB, et al. Cerebral vasculopathy and neurologic sequelae in infants with cervicofacial hemangioma: report of eight patients. Radiology. 1998;207:601–7.PubMedCrossRefGoogle Scholar
  207. 207.
    Burzynski SR. Treatments for astrocytic tumors in children. Current and emerging strategies. Paediatr Drugs. 2006;8:167–78.PubMedCrossRefGoogle Scholar
  208. 208.
    Busch W. Die Morphologie der Sella Turcica und ihre Beziehungen zure Hypophyse. Arch F Path Anat. 1951;320:437–58.CrossRefGoogle Scholar
  209. 209.
    Butler IJ. Cerebrovascular disorders of childhood. J Child Neurol. 1993;8:197–200. Editorial.PubMedCrossRefGoogle Scholar
  210. 210.
    Butman JA, Linchan WM, Lonser RR. Neurologic manifestations of von Hippel-Lindau disease. JAMA. 2008;300:1334–42.PubMedPubMedCentralCrossRefGoogle Scholar
  211. 211.
    Buttner U, Buttner-Ennever JA, Rambold H, et al. The contribution of midbrain circuits in the control of gaze. Ann N Y Acad Sci. 2002;956:99–110.CrossRefGoogle Scholar
  212. 212.
    Byrne JV, Kendall BE, Kingsley DP, et al. Lesions of the brain stem: assessment by magnetic resonance imaging. Neuroradiology. 1989;31:129–33.PubMedCrossRefGoogle Scholar
  213. 213.
    Calabrò F, Arcuri T, Jinkins JR. Blake’s pouch cyst: an entity within the Dandy–Walker continuum. Neuroradiology. 2000;42:290–5.PubMedCrossRefGoogle Scholar
  214. 214.
    Caldarelli M, Novegno F, Massimi L, et al. The role of limited posterior fossa craniectomy in the surgical treatment of Chiari malformation Type I: experience with a pediatric series. J Neurosurg. 2007;106:187–95.PubMedGoogle Scholar
  215. 215.
    Callaway MP, Renowden SA, Lewis TT, et al. Middle cranial fossa arachnoid cysts: not always a benign entity. Br J Radiol. 1998;71:441–3.PubMedCrossRefGoogle Scholar
  216. 216.
    Calogero JA, Alexander E. Unilateral amaurosis in a hydrocephalic child with an obstructed shunt. Case report. J Neurosurg. 1971;34:236–40.PubMedCrossRefGoogle Scholar
  217. 217.
    Campbell SH, Patterson A. Pseduopapilledema in the linear naevus syndrome. Br J Ophthalmol. 1992;76:372–4.PubMedPubMedCentralCrossRefGoogle Scholar
  218. 218.
    Canbaz B, Akar Z, Yilmazlar S, et al. Warburg syndrome. Neurol Res. 1994;16:145–7.PubMedGoogle Scholar
  219. 219.
    Canturk S, Oto S, Kizilkilic O, et al. Rhombencephalosynapsis associated with infantile strabismus. Strabismus. 2008;16:23–7.PubMedCrossRefGoogle Scholar
  220. 220.
    Caprioli J, Lesser RL. Basal encephalocele and morning glory syndrome. Br J Ophthalmol. 1983;67:349–51.PubMedPubMedCentralCrossRefGoogle Scholar
  221. 221.
    Caraballo RH, Cersósimo RO, Mazza E, et al. Focal polymicrogyria in mother and son. Brain Dev. 2000;22:336–9.PubMedCrossRefGoogle Scholar
  222. 222.
    Carabalona A, Beguin S, Pallesi-Pocachard E, et al. A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A. Hum Mol Genet. 2012;21:1004–17.PubMedCrossRefGoogle Scholar
  223. 223.
    Carhuapoma JR, D’Olhaberriague L, Levine SR. Moyamoya syndrome associated with Sneddon’s syndrome and antiphospholipid antibodies. J Stroke Cerebrovasc Dis. 1999;8:51–6.PubMedCrossRefGoogle Scholar
  224. 224.
    Carney SH, Brodsky MC, Good WV, et al. Aicardi syndrome: more than meets the eye. Surv Ophthalmol. 1993;37:419–24.PubMedCrossRefGoogle Scholar
  225. 225.
    Caroli E, Russillo M, Ferrante L. Intracranial meningiomas in children: report of 27 new cases and critical analysis of 440 cases reported in the literature. J Child Neurol. 2006;21:31–6.PubMedCrossRefGoogle Scholar
  226. 226.
    Cartmill B, Lacey B. Trochlear displacement by orbital plexiform neuroma: a novel mechanism causing superior oblique underaction. Eye. 2006;20:1388–9.PubMedCrossRefGoogle Scholar
  227. 227.
    Carvalho KS, Bodensteiner JB, Connolly PJ, et al. Cerebral venous thrombosis in children. J Child Neurol. 2001;16:574–80.PubMedCrossRefGoogle Scholar
  228. 228.
    Caturegli P, Lupi I, Landek-Saldego M, et al. Pituitary autoimmunity: 30 years later. Autoimmun Rev. 2008;7:631–7.PubMedPubMedCentralCrossRefGoogle Scholar
  229. 229.
    Cavanagh EC, Hart BL, Rose D. Association of linear sebaceous nevus syndrome and unilateral megalencephaly. AJNR Am J Neuroradiol. 1993;14:405–8.Google Scholar
  230. 230.
    Cecchetto G, Milanese L, Giordano R, et al. Looking at the missing brain: hydranencephaly case series and literature review. Pediatr Neurol. 2013;48:152–8.PubMedCrossRefGoogle Scholar
  231. 231.
    Cedzich C, Schramm J, Wenzel D. Reversible visual loss after shunt malfunction. Acta Neurochir (Wien). 1990;105:121–3.CrossRefGoogle Scholar
  232. 232.
    Celli P, Ferrante L, Palma L, et al. Cerebral arteriovenous malformations in children. Clinical features and outcome of treatment in children and in adults. Surg Neurol. 1984;22:43.PubMedCrossRefGoogle Scholar
  233. 233.
    Central Brain Tumor Registry of the US. Statistical report: primary brain tumors in the United States, 1998–2002.Google Scholar
  234. 234.
    Ceyhan M, Erdem G, Kanra G, Kaya S, Onerci M. Lymphoma with bilateral cavernous sinus involvement in early childhood. Pediatr Neurol. 1994;10:67.PubMedCrossRefGoogle Scholar
  235. 235.
    Chan JA, Zhang H, Roberts PS, et al. Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation. J Neuropathol Exp Neurol. 2004;63:1236–42.PubMedCrossRefGoogle Scholar
  236. 236.
    Chang BS, Apse KA, Caraballo R, et al. The familial syndrome of unilateral polymicrogyria affecting the right hemisphere. Neurology. 2006;66:133–5.PubMedCrossRefGoogle Scholar
  237. 237.
    Chang L, El-Dairi MA, Frempong TA, et al. Optical coherence tomography in the evaluation of neurofibromatosis type 1 subjects with optic pathway gliomas. J AAPOS. 2010;14:511–7.PubMedCrossRefGoogle Scholar
  238. 238.
    Chao C-C, Lin C-J. Pituitary apoplexy in a teenager-case report. Pediatr Neurol. 2014;50:648–51.PubMedCrossRefGoogle Scholar
  239. 239.
    Charles SJ, Moore AT, Yates JR, et al. Lisch nodules in neurofibromatosis type 2. Arch Ophthalmol. 1989;107:1571.PubMedCrossRefGoogle Scholar
  240. 240.
    Chen F, Kishida T, Yao M, et al. Germline mutations in the von Hippel Lindau tumor suppressor gene are similar to somatic von Hippel Lindau aberrations in sporadic renal cell carcinoma. Am J Hum Genet. 1994;55:1092–102.Google Scholar
  241. 241.
    Chen D, Li L, Tu X, et al. Functional characterization of Klippel-Trenaunay syndrome gene AGGF1 identifies a novel angiogenic signalling pathway for specification of vein differentiation and angiogenesis during embryogenesis. Hum Mol Genet. 2013;22:963–76.Google Scholar
  242. 242.
    Chen M-C, Liu H-M, Ming-Chang C, Liu H-M, Kou-Mou H. Agenesis of the internal carotid associated with neurofibromatosis type II. Am J Neurosci Res. 1993;61:1184–6.Google Scholar
  243. 243.
    Chernov M, Kamikawa S, Toledo R, et al. Neurofiberscope-guided management of slit-ventricle syndrome due to shunt placement. J Neurosurg. 2005;102:260–7.PubMedGoogle Scholar
  244. 244.
    Cherungottil L, Shetty S, Vijayalakshmi P, et al. Congenital oculomotor nerve palsy due to effects of carotid artery agenesis. J AAPOS. 2014;18(5):507–9.Google Scholar
  245. 245.
    Chiba Y, Takagi H, Nakajimi F, et al. Cerebrospinal fluid edema: a rare complication of shunt operations for hydrocephalus. J Neurosurg. 1982;57:697–700.PubMedCrossRefGoogle Scholar
  246. 246.
    Chiyonobu T, Yohihara T, Fukushima Y, et al. Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections. Am J Hum Genet. 2002;109:61–6.CrossRefGoogle Scholar
  247. 247.
    Choudhari KA, Cooke C, Hong Tan M, et al. Papilloedema as the sole presenting feature of Chiari I malformation. Br J Neurosurg. 2002;16:398–400.PubMedCrossRefGoogle Scholar
  248. 248.
    Choudry N, Orlin A, Bilaniuk L, Maguire AM. Cerebroretinal microangiopathy with occlusive telangiectasia and multisystemic malformations. J AAPOS. 2011;15:502–3.CrossRefGoogle Scholar
  249. 249.
    Chowaniec MJ, Suh DW, Boldt HC, et al. Anomalous optical coherence tomography findings in Wyburn-Mason syndrome and isolated retinal arteriovenous malformation. J AAPOS. 2015;19:175–9.PubMedCrossRefGoogle Scholar
  250. 250.
    Christodoulou J, Quereshi IA, McInees RR, et al. Ornithine transcarbamylase deficiency presenting with strokelike episodes. J Pediatr. 1993;122:423–5.PubMedCrossRefGoogle Scholar
  251. 251.
    Chuang SH, Fitz CR, Chilton SJ, et al. Schizencephaly: spectrum of CT findings in association with septo-optic dysplasia. Radiology. 1984;153:118. Abstract.Google Scholar
  252. 252.
    Chumas PD, Armstrong DC, Drake JM, et al. Tonsillar herniation: the rule rather than the exception after lumboperitoneal shunting in the pediatric population. J Neurosurg. 1993;78:568–73.PubMedCrossRefGoogle Scholar
  253. 253.
    Chung M, Lo WD. What price progress: delayed cerebrovascular lesions in cancer survivors. Pediatr Neurol. 2013;49:221–2.PubMedCrossRefGoogle Scholar
  254. 254.
    Cibis GW, Tripathi RC, Tripathi BJ. Glaucoma in Sturge-Weber syndrome. Ophthalmology. 1984;91:1061–71.PubMedCrossRefGoogle Scholar
  255. 255.
    Cibis GW, Whittaker CK, Wood WE. Intraocular extension of optic nerve meningioma in a case of neurofibromatosis. Arch Ophthalmol. 1985;103:404–6.PubMedCrossRefGoogle Scholar
  256. 256.
    Cibis GW, Whittaker CK, Wood WE. Intraocular meningioma with intraocular extension. Mayo Clin Proc. 1977;52:504–8.Google Scholar
  257. 257.
    Cin H, Meyer C, Herr R, et al. Oncogenic FAM131B-BRAF fusion resulting from 7q34 deletion comprises an alternative mechanism of MAPK pathway activation in pilocytic astrocytoma. Acta Neuropathol. 2011;121:763–4.PubMedCrossRefGoogle Scholar
  258. 258.
    Clancy RR, Kurtz MB, Baker D. Neurologic manifestations of the organoid nevus syndrome. Arch Neurol. 1985;42:236–40.PubMedCrossRefGoogle Scholar
  259. 259.
    Clark AC, Nelson LB, Simon JW, et al. Acute acquired comitant esotropia. Br J Ophthalmol. 1989;73:636–8.PubMedPubMedCentralCrossRefGoogle Scholar
  260. 260.
    Clarós P, Bandos R, Gilea I, et al. Major anomalies of the internal carotid artery: aplasia, aplasia, and hypoplasia. Int J Paediatr Otorhinolaryngol. 1999;49:69–76.CrossRefGoogle Scholar
  261. 261.
    Claudio JO, Veneziale RW, Menko AS, et al. Expression of schwannomin in lens and Schwann cells. Neuroreport. 1997;8:2025–30.PubMedCrossRefGoogle Scholar
  262. 262.
    Coats DK, Paysse EA, Levy ML. PHACE: a neurocutaneous syndrome with important ophthalmologic implications. Ophthalmology. 1999;106:1739–41.PubMedCrossRefGoogle Scholar
  263. 263.
    Coats DK, Demmler GJ, Paysse EA, et al. Ophthalmologic findings in children with cytomegalovirus infection. J AAPOS. 2000;4:110–16.Google Scholar
  264. 264.
    Coban-Karatas M, Erol I, Ozkale Y, Yazici N. Central retinal artery occlusion in a 13-year-old child as a presenting sign of hyperhomocysteinemia together with high lipoprotein(A) level. Pediatr Neurol. 2013;49:138–40.PubMedCrossRefGoogle Scholar
  265. 265.
    Cobbs WH, Schatz NJ, Savino PJ. Midbrain eye signs in hydrocephalus. Ann Neurol. 1978;4:172.Google Scholar
  266. 266.
    Cogan DG. Convergence nystagmus. Arch Ophthalmol. 1959;62:295–9.CrossRefGoogle Scholar
  267. 267.
    Cogan DG, Loeb DR. Optokinetic responses and intracranial lesions. Arch Neurol Psychiatr. 1947;61:183–7.CrossRefGoogle Scholar
  268. 268.
    Cogan DG, Wray SH. Internuclear ophthalmoplegia as an early sign of brain stem tumors. Neurology. 1970;20:629.PubMedCrossRefGoogle Scholar
  269. 269.
    Cohen AR. Endoscopic neurosurgery. In: Wilkins RH, Rengachary SS, editors. Neurosurgery, vol. 1. 2nd ed. New York: McGraw-Hill; 1996. p. 539–46.Google Scholar
  270. 270.
    Cohen JE, Gomori JM, Leker RR. Internal carotid artery agenesis: diagnosis, clinical spectrum associated conditions and its importance in the era of stroke interventions. Neurol Res. 2010;32:1027–32.PubMedCrossRefGoogle Scholar
  271. 271.
    Cohen ME, Duffner PK. Brain tumors in children. 2nd ed. New York: Raven; 1994.Google Scholar
  272. 272.
    Cohen ME, Duffner PK, Heffner RR, et al. Prognostic factors in brainstem gliomas. Neurology. 1986;36:602–5.PubMedCrossRefGoogle Scholar
  273. 273.
    Cohen Jr MM. Holoprosencephaly: clinical, anatomic, and molecular dimensions. Birth Defects Res A Clin Mol Teratol. 2006;76:658–73.PubMedCrossRefGoogle Scholar
  274. 274.
    Cohn AD, Quiram PA, Drenser KA, et al. Surgical outcomes of epiretinal membranes associated with combined hamartoma of the retina and retinal pigment epithelium. Retina. 2009;29:825–30.PubMedCrossRefGoogle Scholar
  275. 275.
    Colombo N, Salomon N, Raybaud C, et al. Imaging malformations of cortical development. Epileptic Disord. 2009;11:194–205.PubMedGoogle Scholar
  276. 276.
    Comi A, Hunt P, Vawter MP, et al. Increased fibronectin expression in Sturge-Weber syndrome fibroblasts and brain tissue. Pediatr Res. 2003;53:762–9.PubMedCrossRefGoogle Scholar
  277. 277.
    Connolly MB, Jan JE, Cochrane DD. Rapid recovery from cortical visual impairment following correction of prolonged shunt malfunction in congenital hydrocephalus. Arch Neurol. 1991;48:956–7.PubMedCrossRefGoogle Scholar
  278. 278.
    Conrath J, Roquelaure B, Chrestian M, et al. Retinal ischemic syndrome, digestive tract small-vessel hyalinosis, and diffuse cerebral calcifications: a pediatric observation of a rare syndrome. Arch Ophthalmol. 2005;123:1141–3.PubMedCrossRefGoogle Scholar
  279. 279.
    Conway JE, Chou D, Clatterbuck RE, et al. Hemangioblastomas of the central nervous system in von Hippel-Lindau syndrome and sporadic disease. Neurosurgery. 2001;48:55–62.PubMedGoogle Scholar
  280. 280.
    Coppetto JR, Gahn NG. Bitemporal hemianopic scotoma: a complication of intraventricular catheter. Surg Neurol. 1977;8:361–2.Google Scholar
  281. 281.
    Coppola G, Vajro P, De Virgiliis S, et al. Cerebellar vermis defect, oligophrenia, congenital ataxia, and hepatic fibrocirrhosis without coloboma and renal abnormalities: report of three cases. Neuropediatrics. 2002;33:180–5.PubMedCrossRefGoogle Scholar
  282. 282.
    Corbett JJ. Neuro-ophthalmologic complications of hydrocephalus and shunting procedures. Semin Neurol. 1986;6:111–23.PubMedCrossRefGoogle Scholar
  283. 283.
    Cormand B, Avela K, Pihko H, et al. Assignment of the muscle-eye-brain disease gene to 1p32–34 by linkage analysis and homozygosity mapping. Am J Hum Genet. 1999;64:126–34.PubMedPubMedCentralCrossRefGoogle Scholar
  284. 284.
    Cormand B, Pihko H, Bayés M, et al. Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology. 2001;56:1059–69.PubMedCrossRefGoogle Scholar
  285. 285.
    Corns R, Martin A. Hydrocephalus. Surgery (Oxford). 2012;30:142–8.CrossRefGoogle Scholar
  286. 286.
    Costa RM, Federov NB, Kogan JH, et al. Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1. Nature. 2002;415:526–30.PubMedCrossRefGoogle Scholar
  287. 287.
    Cotton MF, Reiley T, Robinson CC, et al. Acute aqueductal stenosis in a patient with Epstein-Barr virus infectious mononucleosis. Pediatr Infect Dis J. 1994;13:224–7.PubMedCrossRefGoogle Scholar
  288. 288.
    Couch SM, Brodie SE, Leavitt JA, Brodsky MC. Something to sink your teeth into. Surv Ophthalmol. 2011;56:544–9.PubMedCrossRefGoogle Scholar
  289. 289.
    Coulon RA, Toll K. Intracranial ependymomas in children: a review of 43 cases. Childs Brain. 1977;3:154–68.PubMedGoogle Scholar
  290. 290.
    Coupland SG, Sarnat HB. Visual and auditory evoked potential correlates of cerebral malformations. Brain Dev. 1990;12:466–72.Google Scholar
  291. 291.
    Coupry I, Sibon I, Mortmousque B, et al. Ophthalmological features associated with COL4A1 mutations. Arch Ophthalmol. 2010;128:483–9.PubMedCrossRefGoogle Scholar
  292. 292.
    Covarrubias DJ, Luetmer PH, Campeau NG. Posterior reversible encephalopathy syndrome: prognostic utility of quantitative diffusion-weighted images. AJNR Am J Neuroradiol. 2002;23:1038–48.PubMedGoogle Scholar
  293. 293.
    Coyle JT. Goldenhar’s syndrome. Arch Ophthalmol. 1991;109:916.PubMedCrossRefGoogle Scholar
  294. 294.
    Cozad SC, Townsent P, Morantz RA, et al. Gliomatosis cerebri: results with radiation therapy. Cancer. 1996;78:859–62.CrossRefGoogle Scholar
  295. 295.
    Crassard I, Bousser M-G. Central venous thrombosis: diagnosis and treatment. In: Proceedings of the North American Neuro-Ophthalmology Society, Copper Mountain, 9–14 Feb 2002. p. 165–71.Google Scholar
  296. 296.
    Crawford JR, MacDonald TJ, Packer RJ. Medulloblastoma in childhood: new biological advances. Lancet Neurol. 2007;6:1073–85.Google Scholar
  297. 297.
    Crawford JR, Rood BR, Rossi CT, et al. Medulloblastoma associated with novel PTCH mutation as primary manifestation of Gorlin syndrome. Neurology. 2009;72(18):1618.PubMedCrossRefGoogle Scholar
  298. 298.
    Cremer OL, van Dyk GW, Armelink GJ, et al. Cerebral hemodynamic responses to blood pressure manipulation in severely head-injured patients in the presence or absence of intracranial hypertension. Anesth Anal. 2004;99:1211–7.CrossRefGoogle Scholar
  299. 299.
    Crino PG. Molecular pathogenesis of tuber formation in tuberous sclerosis complex. J Child Neurol. 2004;19:716–25.PubMedGoogle Scholar
  300. 300.
    Crosley CJ, Binet EF. Sturge-Weber syndrome. Presentation as a focal seizure disorder without nevus flammeus. Clin Pediatr (Phila). 1978;17:606–9.CrossRefGoogle Scholar
  301. 301.
    Crossey PA, Richards FM, Foster K, et al. Identification of intragenic mutations in the von Hippel Lindau disease tumor suppressor gene and correlation with disease phenotype. Hum Mutat. 1995;5:66–75.CrossRefGoogle Scholar
  302. 302.
    Crow VJ, Massey RF, Innes JR, et al. Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome. Am J Med Genet. 2004;129A:303–7.PubMedCrossRefGoogle Scholar
  303. 303.
    Cruz-Velarde JA, Muñoz L, Rodrigálvarez R, Grandas F. Intracranial hypertension as the first clinical manifestation of gliomatosis cerebri. Neurologia. 2000;15:32–4.Google Scholar
  304. 304.
    Cunliffe IA, Moffat DA, Hardy DG, et al. Bilateral optic nerve sheath meningiomas in a patient with neurofibromatosis type 2. Br J Ophthalmol. 1992;76:310–2.PubMedPubMedCentralCrossRefGoogle Scholar
  305. 305.
    Cushing H. Experiences with the cerebellar medulloblastoma: a critical review. Acta Pathol Microbiol Scand. 1930;7:1–86.CrossRefGoogle Scholar
  306. 306.
    Cusmai R, Curatolo P, Mangano S, et al. Hemimegalencephaly and neurofibromatosis. Neuropediatrics. 1989;21:179–82.CrossRefGoogle Scholar
  307. 307.
    da Lacerda LDS, Alves ÚD, Zanier JFC, et al. Differential diagnoses of the overgrowth syndromes: the most important clinical and radiological disease manifestations. Radiol Res Pract. 2014;2014:947551. doi: 10.1155/2014/947451.
  308. 308.
    Dabora SL, Jozwiak S, Franz DN, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet. 2001;68:64–80.PubMedCrossRefGoogle Scholar
  309. 309.
    Dagi LR, Chrousos GA, Cogan DC. Spasm of the near reflex associated with organic disease. Am J Ophthalmol. 1987;103:582–5.PubMedCrossRefGoogle Scholar
  310. 310.
    D’Arrigo S, Viganò L, Bruzzone MG, et al. Diagnostic approach to cerebellar disease in children. J Child Neurol. 2005;20:859–66.PubMedCrossRefGoogle Scholar
  311. 311.
    Darsaut TE, Guzman R, Marcellus ML, et al. Management of pediatric intracranial arteriovenous malformations. Neurosurgery. 2011;69:540–56.PubMedCrossRefGoogle Scholar
  312. 312.
    Dasgupta B, Li W, Perry A, et al. Glioma formation in neurofibromatosis 1 reflects preferential activation of K-RAS in astrocytes. Cancer Res. 2005;65:236–45.PubMedGoogle Scholar
  313. 313.
    Dasgupta B, Yi Y, Chen DY, et al. Proteomic analysis reveals hyperactivation of the mammalian target of rapamycin pathway in neurofibromatosis 1–associated human and mouse brain tumors. Cancer Res. 2005;65:2755–60.PubMedCrossRefGoogle Scholar
  314. 314.
    Dattani MT, Martinez-Barbera JP, Thomas PQ, et al. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nat Genet. 1998;19:125–33.PubMedCrossRefGoogle Scholar
  315. 315.
    Dattani MT, Robertson IC. HESX1 and septo-optic dysplasia. Rev Endocr Metab Disord. 2002;3:289–300.PubMedCrossRefGoogle Scholar
  316. 316.
    Daumas-Duport C, Scheithauer BW, et al. Dysembryoplastic neuroepithelial tumor: a surgically-curable tumor of young patients with intractable partial seizures. Neurosurgery. 1988;23:545–56.PubMedCrossRefGoogle Scholar
  317. 317.
    Davidson JE, McWilliam RC, Evans TJ, et al. Porencephaly and optic hypoplasia in neonatal thrombocytopenia. Arch Dis Child. 1989;64:858–60.PubMedPubMedCentralCrossRefGoogle Scholar
  318. 318.
    Davis CH, Joglekar VM. Cerebellar astrocytomas in children and young adults. J Neurol Neurosurg Psychiatry. 1981;44:820–8.PubMedPubMedCentralCrossRefGoogle Scholar
  319. 319.
    Defoort-Dhellemmes S, Moritz F, Bouacha I, Vinchon M. Craniopharyngioma: ophthalmological aspects at diagnosis. J Pediatr Endocrinol Metab. 2006;19:P321–4.Google Scholar
  320. 320.
    de Blank PM, Berman JI, Liu GT, et al. Fractional anisotropy of the optic radiations is associated with visual acuity loss in optic pathway gliomas of neurofibromatosis type 1. Neuro Oncol. 2013;15:1088–95.PubMedPubMedCentralCrossRefGoogle Scholar
  321. 321.
    De Jong PT, Bistervels B, Cosgrove J, et al. Meddulated nerve fibers: a sign of multiple basal cell nevi (Gorlin’s syndrome). Arch Ophthalmol. 1985;103:1833–6.PubMedCrossRefGoogle Scholar
  322. 322.
    de Jong PT, Verkaart RJF, van de Vooren MJ, et al. Twin vessels in von Hippel-Lindau disease. Am J Ophthalmol. 1988;105:165–9.PubMedCrossRefGoogle Scholar
  323. 323.
    de Juan E, Green WR, Gupta PK, et al. Vitreous seeding by retinal astrocytic hamartoma in a patient with tuberous sclerosis. Retina. 1984;4:100–2.PubMedCrossRefGoogle Scholar
  324. 324.
    De Santi MM, Magni A, Valletta EA, et al. Hydrocephalus, bronchiectasis, and ciliary aplasia. Arch Dis Child. 1990;65:543–4.PubMedPubMedCentralCrossRefGoogle Scholar
  325. 325.
    Del Bigio MF. Neuropathological changes caused by hydrocephalus. Acta Neuropathol (Berl). 1993;85:578–85.Google Scholar
  326. 326.
    del Toro M, Macaya A, Vasquez E, et al. Painful ophthalmoplegia with reversible carotid stenosis in a child. Pediatr Neurol. 2001;24:317–9.PubMedCrossRefGoogle Scholar
  327. 327.
    Des Portes V, Francis F, Pinard JM, et al. Doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH). Hum Mol Genet. 1998;7:1063–70.PubMedCrossRefGoogle Scholar
  328. 328.
    Demaerel P, Lagae L, Casaer P, Baert AL. MR of cerebellar cortical dysplasia. AJNR Am J Neuroradiol. 998;19:984–6.Google Scholar
  329. 329.
    Dearnaley DP, A’Hern RP, Whittaker S, et al. Pineal and CNS germ cell tumors: Royal Marsden Hospital experience 1962–1987. Int J Radiat Oncol Biol Phys. 1990;18:773–88.PubMedCrossRefGoogle Scholar
  330. 330.
    Defoort-Dhellemmes S, Denion E, Arndt CF, et al. Resolution of acute acquired comitant esotropia after suboccipital decompression for Chiari I malformation. Am J Ophthalmol. 2002;133:723–5.PubMedCrossRefGoogle Scholar
  331. 331.
    DeLeon GA, Grant JA, Darling CF. Monstrous, crablike hypertrophy of the cerebellar vermis and its relationship with Lhermitte-Duclos disease. J Neurosurg. 1996;85:157–9.CrossRefGoogle Scholar
  332. 332.
    Delleman JW, Oorthuys JE. Orbital cyst in addition to congenital cerebral and focal dermal malformations. A new entity? Clin Genet. 1981;19:191–8.PubMedCrossRefGoogle Scholar
  333. 333.
    DeLone DR, Brown WD, Gentry LR. Proteus syndrome: craniofacial and cerebral MRI. Neuroradiology. 1999;41:840–3.PubMedCrossRefGoogle Scholar
  334. 334.
    Denckla MB, Hofman K, Mazzocco MM, et al. Relationship between T1-weighted hyperintensities (unidentified bright objects) and lower IQs in children with neurofibromatosis, brain tumor, or both. J Child Neurol. 1994;9:368–77.CrossRefGoogle Scholar
  335. 335.
    Dennis M, Edelstein K, Hetherington R, et al. Neurobiology of perceptual and motor timing in children with spina bifida in relation to cerebellar volume. Brain. 2004;127:1–10.CrossRefGoogle Scholar
  336. 336.
    Descartes M, Royal SA, Franklin J, et al. A new syndrome with Stargardt macular degeneration, abnormalities of the corpus callosum, mental retardation, and dysmorphic features: a case report and review of two siblings. Clin Dysmorphol. 2009;18:178–80.PubMedCrossRefGoogle Scholar
  337. 337.
    Destro M, D’Amico DJ, Gragoudas ES, et al. Retinal manifestations of neurofibromatosis: diagnosis and management. Arch Ophthalmol. 1991;109:662–6.PubMedCrossRefGoogle Scholar
  338. 338.
    Deutsch M. Medulloblastoma: staging and treatment outcome. Int J Radiat Oncol Biol Phys. 1988;14:1103–7.PubMedCrossRefGoogle Scholar
  339. 339.
    deVeber G, Andrew M, Adams C, et al. Cerebral sinovenous thrombosis in children. N Engl J Med. 2001;345:417–23.PubMedCrossRefGoogle Scholar
  340. 340.
    Devi AS, Eisenfeld L, Uphoff D, Greenstein R. New syndrome of hydrocephalus, endocardial fibroelastosis, and cataracts (HEC syndrome). Am J Med Genet. 1995;56:62–8.PubMedCrossRefGoogle Scholar
  341. 341.
    Dexter MA, Parker GD, Besser M. MR and positron emission tomography with fludeoxy glucose F 18 in gliomatosis cerebri. AJNR Am J Neuroradiol. 1995;16:1507–10.PubMedGoogle Scholar
  342. 342.
    Dhannawat SS, Rao AA, Brodsky MC: Nystagmus in an emaciated infant. JAMA Ophthalmol 2015;133:1349–1350.Google Scholar
  343. 343.
    Di Rocco C. Is the slit ventricle syndrome always a slit ventricle syndrome? Childs Nerv Syst. 1994;10:49–58.PubMedCrossRefGoogle Scholar
  344. 344.
    Di Rocco C, Battaglia D, Pietrini D, et al. Hemimegalencephaly: clinical implications and surgical treatment. Childs Nerv Syst. 2006;22:852–66.PubMedCrossRefGoogle Scholar
  345. 345.
    Di Rocco C, Tamburrini G. Sturge-Weber syndrome. Childs Nerv Syst. 2006;22:909–21.PubMedCrossRefGoogle Scholar
  346. 346.
    Di Rocco C, Velardi F. Acquired Chiari type I malformation managed by supratentorial cranial enlargement. Childs Nerv Syst. 2003;19:800–7.PubMedCrossRefGoogle Scholar
  347. 347.
    Di Rocco F, Novegno F, Tamburrini G, et al. Hemimegalencephaly involving the cerebellum. Pediatr Neurosurg. 2001;35:274–6.PubMedCrossRefGoogle Scholar
  348. 348.
    Dias MS, McLone DG. Hydrocephalus in the child with dysraphism. Neurosurg Clin N Am. 1993;4:715–26.PubMedGoogle Scholar
  349. 349.
    Dichgans M. A new cause of hereditary small vessel disease: angiopathy of retina and brain. Neurology. 2003;60:8–9.PubMedCrossRefGoogle Scholar
  350. 350.
    Diebler C, Dulac O. Cephalocoeles: clinical and neuroradiological appearance. Neuroradiology. 1983;25:199–216.PubMedCrossRefGoogle Scholar
  351. 351.
    Dies KA, Bodell A, Hisama FM, et al. Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care. J Child Neurol. 2013;28:198–203.PubMedCrossRefGoogle Scholar
  352. 352.
    Dietrich RB, Glidden DE, Roth GM, et al. The Proteus syndrome: CNS manifestations. Am J Neuroradiol. 1998;19:987–90.PubMedGoogle Scholar
  353. 353.
    DiMario FJ, Ramsby G, Greenstein R, et al. Neurofibromatosis type 1: magnetic resonance imaging findings. J Child Neurol. 1993;8:32–9.PubMedCrossRefGoogle Scholar
  354. 354.
    Dimitriadis PA, Mackeith S, Archibald C, et al. Findings in a patient with Wildervanck syndrome. Clin Neuroradiol. 2015;25:69–71.PubMedCrossRefGoogle Scholar
  355. 355.
    DiPaolo D, Zimmerman RA. Solitary cortical tubers. AJNR Am J Neuroradiol. 1995;16:1360–4.PubMedGoogle Scholar
  356. 356.
    DiPaolo D, Zimmerman RA, Rorke LB, et al. Pathological substrate of high intensity foci in neurofibromatosis type 1. Radiology. 1995;195:721–4.PubMedCrossRefGoogle Scholar
  357. 357.
    Dirik MA, Yis U, Dirik E. Molar tooth sign is not pathognomonic for Joubert syndrome. Pediatr Neurol. 2013;49:515–6.PubMedCrossRefGoogle Scholar
  358. 358.
    Diven DG, Solomon AR, McNeely MC, et al. Nevus sebaceus associated with major ophthalmologic abnormalities. Arch Dermatol. 1987;123:383–6.PubMedCrossRefGoogle Scholar
  359. 359.
    Dobyns WB, Mirzaa G, Christian SL, et al. Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. Am J Med Genet A. 2008;146A:1637–54.PubMedPubMedCentralCrossRefGoogle Scholar
  360. 360.
    Dobyns WB, Pagon RA, Armstrong D, et al. Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet. 1989;32:195–210.PubMedCrossRefGoogle Scholar
  361. 361.
    Dobyns WB, Truwit CL. Lissencephaly and other malformations of cortical development: 1995 update. Neuropediatrics. 1995;26:132–47.PubMedCrossRefGoogle Scholar
  362. 362.
    Doherty D. Joubert syndrome: new insights into brain development, cilium biology, and complex disease. Semin Pediatr Neurol. 2009;16:143–54.PubMedPubMedCentralCrossRefGoogle Scholar
  363. 363.
    Donaldson SS, Laningham F, Fisher PG. Advances toward an understanding of brainstem glioma. J Clin Oncol. 2006;24:1266–72.PubMedCrossRefGoogle Scholar
  364. 364.
    Dooley JM, LaRoche GR, Tremblay F, et al. Autosomal recessive cerebellar hypoplasia and tapeto-retinal degeneration: a new syndrome. Pediatr Neurol. 1992;8:232–4.PubMedCrossRefGoogle Scholar
  365. 365.
    Dorotheo EU, Tang RA, Bahrani HM, et al. Her vision was tied down. Surv Ophthalmol. 2005;50:588–96.PubMedCrossRefGoogle Scholar
  366. 366.
    Dossetor FM, Landau K, Hoyt WF. Optic disk glioma in neurofibromatosis type 2. Am J Ophthalmol. 1989;108:602–3.PubMedCrossRefGoogle Scholar
  367. 367.
    Dotan SA, Trobe JD, Gebarski SS. Visual loss in tuberous sclerosis. Neurology. 1991;41:1915–7.PubMedCrossRefGoogle Scholar
  368. 368.
    Dowhan TP, Muci-Mendoza R, Aitken PA. Disappearing optociliary shunt vessels and neonatal hydrocephalus. J Clin Neuroophthalmol. 1988;8:1–8.PubMedCrossRefGoogle Scholar
  369. 369.
    Drake J. Slit-ventricle syndrome. J Neurosurg. 2005;102:257–9.PubMedGoogle Scholar
  370. 370.
    Dropcho EJ, Wisoff JH, Walker RW, et al. Supratentorial malignant gliomas in childhood: a review of fifty cases. Ann Neurol. 1987;22:355–64.PubMedCrossRefGoogle Scholar
  371. 371.
    Duat-Rodríguez A, Lechón FC, Pino MAL, et al. Neurofibromatosis type 1 associated with moyamoya syndrome in children. Pediatr Neurol. 2014;50:96–8.PubMedCrossRefGoogle Scholar
  372. 372.
    Dubourg C, David V, Gropman A, et al. Clinical utility gene card for: holoprosencephaly. Eur J Hum Genet. 2011;19:118–20.CrossRefGoogle Scholar
  373. 373.
    Dubowitz V. 68th ENMC International Workshop (5th International Workshop): on congenital muscular dystrophy, April 9–11, 1999, Naarden, the Netherlands. Neuromuscul Disord. 1999;9:446–54.PubMedCrossRefGoogle Scholar
  374. 374.
    Duffner PK, Cohen ME, Seidel FG, et al. The significance of MRI abnormalities in children with neurofibromatosis. Neurology. 1989;39:373–8.PubMedCrossRefGoogle Scholar
  375. 375.
    Dumoulin SO, Jirsch JD, Bernasconi A. Functional organization of the human visual cortex in human polymicrogyria. Hum Brain Mapp. 2007;28:1302–12.Google Scholar
  376. 376.
    Dutkiewicz AS, Ezzedine K, Mazereeuw-Hautier J, et al. A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain. J Am Acad Dermatol. 2015;72:473–80.PubMedCrossRefGoogle Scholar
  377. 377.
    Dyck PJ, Mellinger JF, Reagan TJ, et al. Not indifference to pain but varieties of hereditary sensory and autonomic neuropathy. Brain. 1983;106:373–90.PubMedCrossRefGoogle Scholar
  378. 378.
    Dyste GN, Menezes AH, VanGilder JC. Symptomatic Chiari malformations. An analysis of presentation, management, and long term outcome. J Neurosurg. 1989;71:159–68.PubMedCrossRefGoogle Scholar
  379. 379.
    Eckman PB, Fountain EM. Unilateral proptosis: association with arteriovenous malformations involving the Galenic system. Arch Neurol. 1974;31:350–1.PubMedCrossRefGoogle Scholar
  380. 380.
    Edward DP, Morales J, Bouhenni RA, et al. Congenital ectropion uveae and mechanisms of glaucoma in neurofibromatosis type 1: new insights. Ophthalmology. 2012;119:1485–94.PubMedCrossRefGoogle Scholar
  381. 381.
    Edwards MS, Hudgins RJ, Wilson CB, et al. Pineal region tumors in children. J Neurosurg. 1988;68:689–97.PubMedCrossRefGoogle Scholar
  382. 382.
    Edwards TJ, Sherr EH, Barkovich AJ, Richards LJ. Clinical, genetic, and imaging findings identify new causes for corpus callosum development syndromes. Brain. 2014;137:1579–613.PubMedPubMedCentralCrossRefGoogle Scholar
  383. 383.
    Effron L, Zakov ZN, Tomsak RL. Neovascular glaucoma as a complication of the Wyburn-Mason syndrome. J Clin Neuroophthalmol. 1985;5:95–8.PubMedGoogle Scholar
  384. 384.
    Eide PK. Assessment of quality of continuous intracranial pressure recordings in children. Pediatr Neurosurg. 2006;42:28–34.PubMedCrossRefGoogle Scholar
  385. 385.
    Elazab NE, Riel-Romero RMS, Gonzalez-Toledo E. Internal carotid artery agenesis and basilar artery aneurysm with third nerve palsy. Pediatr Neurol. 2010;42:451–4.PubMedCrossRefGoogle Scholar
  386. 386.
    Eldridge R, Denckla MB, Bien E, et al. Neurofibromatosis type 1 (Recklinghausen’s disease). Am J Dis Child. 1989;143:833–9.PubMedCrossRefGoogle Scholar
  387. 387.
    Ellenbogen RG, Winston KR, Kupsky WJ. Tumors of the choroid plexus in children. Neurosurgery. 1989;25:327–35.PubMedCrossRefGoogle Scholar
  388. 388.
    Emery JL, Gadston DR. A quantitative study of the cell population of the cerebellum in children with myelomeningocele. Dev Med Child Neurol. 1975;15:20–5.Google Scholar
  389. 389.
    Engle EC. Human genetic disorders of axon guidance. Cold Spring Harb Perspect Biol. 2010;2:a001784.PubMedPubMedCentralCrossRefGoogle Scholar
  390. 390.
    Epstein F, Wisoff JH. Intrinsic brain stem tumors in childhood: surgical indications. J Neurooncol. 1988;6:309–17.PubMedCrossRefGoogle Scholar
  391. 391.
    Erickson RP. Recent advances in the study of somatic mosaicism and diseases other than cancer. Curr Opin Genet Devel. 2014;26:73–8.Google Scholar
  392. 392.
    Ernestus RI, Wilcked O, Schroder R. Supratentorial ependymomas in childhood: clinicopathological findings and prognosis. Acta Neurochir. 1991;111:96–102.PubMedCrossRefGoogle Scholar
  393. 393.
    Ersahin Y, Mutluer S, Guzelbag E. Intracranial hydatic cysts in children. Neurosurgery. 1993;33:219–25.PubMedCrossRefGoogle Scholar
  394. 394.
    Erşahin Y, Őzdamar N, Demirtaş E, et al. A case of Rathke’s cleft cyst presenting with diabetes insipidus. Clin Neurol Neurosurg. 1995;97(4):317–20.PubMedCrossRefGoogle Scholar
  395. 395.
    Espinosa JA, Giroux M, Johnson K, et al. Abducens palsy following shunting for hydrocephalus. Can J Neurol Sci. 1993;20:123–5.PubMedCrossRefGoogle Scholar
  396. 396.
    Ess KC, Roach ES. New therapies for tuber-less sclerosis. White matter matters? Neurology. 2012;78:520–1.PubMedCrossRefGoogle Scholar
  397. 397.
    Evans AE, Jenkin RD, Sposto R, et al. The treatment of medulloblastoma. J Neurosurg. 1990;72:572–82.PubMedCrossRefGoogle Scholar
  398. 398.
    Evans DG, Baser ME, McGaughran J, et al. Malignant peripheral nerve sheath tumors in neurofibromatosis 1. J Med Genet. 2002;39:311–4.PubMedPubMedCentralCrossRefGoogle Scholar
  399. 399.
    Evans DGR, Baser ME, O’Reilly B, et al. Management of patient and family with neurofibromatosis 2: a consensus conference statement. Br J Neurosurg. 2005;19:5–12.PubMedCrossRefGoogle Scholar
  400. 400.
    Evans DGR, Huson SM, Donnai D, et al. A clinical study of type 2 neurofibromatosis. Q J Med. 1992;84:603–18.PubMedGoogle Scholar
  401. 401.
    Evans DGR, Moran A, King A, et al. The incidence of vestibular schwannoma and neurofibromatosis 2 in the northwest of England over a 10–year period: higher incidence than previously thought. Otol Neurotol. 2005;26:93–7.PubMedCrossRefGoogle Scholar
  402. 402.
    Evans DGR, Trueman L, Wallace A, et al. Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations. J Med Genet. 1998;35:450–5.PubMedPubMedCentralCrossRefGoogle Scholar
  403. 403.
    Evans DGR, Wallace A. An update on age related mosaic and offspring risk in neurofibromatosis 2 (NF2). J Med Genet. 2009;46:762.Google Scholar
  404. 404.
    Evrengul H, Kilic DI, Zungur M, et al. Myocardial infarction in a 10-year-old patient due to neurofibromatosis-associated coronary aneurysm. Cardiol Young. 2013;23:454–6.PubMedCrossRefGoogle Scholar
  405. 405.
    Fagan LH, Ferguson S, Yassari R, et al. The Chiari pseudotumor cerebri syndrome: symptom recurrence after surgery for Chiari malformation type 1. Pediatr Neurosurg. 2006;42:14–9.PubMedCrossRefGoogle Scholar
  406. 406.
    Faillace WJ, Canady AI. Cerebrospinal fluid shunt malfunction signaled by new or recurrent seizures. Childs Nerv Syst. 1990;6:37–40.PubMedCrossRefGoogle Scholar
  407. 407.
    Falsini B, Chiaretti A, Rizzo D, et al. Nerve growth factor improves visual loss in childhood optic gliomas: a randomized, double-blind, phase II clinical trial. Brain. 2016;139:404–14.Google Scholar
  408. 408.
    Farina L, Uggetti C, Ottolini A, et al. Ataxia-telangiectasia: MR and CT findings. J Comput Assist Tomogr. 1994;18:724–7.PubMedCrossRefGoogle Scholar
  409. 409.
    Farmer J-T, Khan S, Khan A, et al. Neurofibromatosis type 1 and the pediatric neurosurgeon: a 2-year institutional review. Pediatr Neurosurg. 2002;37:122–36.PubMedCrossRefGoogle Scholar
  410. 410.
    Farr AK, Shalev B, Crawford TO, et al. Ocular manifestations of ataxia-telangiectasia. Am J Ophthalmol. 2002;134:891–6.PubMedCrossRefGoogle Scholar
  411. 411.
    Farrell CJ, Plotkin SR. Genetic causes of brain tumors: neurofibromatosis, tuberous sclerosis, von Hippel-Lindau, and other syndromes. Neurol Clin. 2007;25:925–46.PubMedCrossRefGoogle Scholar
  412. 412.
    Farwell JR, Flannery JT. Pinealomas and germinomas in children. J Neurooncol. 1989;7:13–9.PubMedCrossRefGoogle Scholar
  413. 413.
    Faughnan ME, Palda VA, Garcia-Tsao G, et al. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet. 2011;48:73–87.PubMedCrossRefGoogle Scholar
  414. 414.
    Fauser S, Huppertz H, Bast T, et al. Clinical characteristics of focal cortical dysplasia. Brain. 2006;129:1907–16.PubMedCrossRefGoogle Scholar
  415. 415.
    Feenstra I, van Ravenswaaij CM, van der Knaap MS, Willemsen MA. Neuroimaging in nine patients with inversion duplication of the short arm of chromosome 8. Neuropediatrics. 2006;37:83–7.PubMedCrossRefGoogle Scholar
  416. 416.
    Felix I, Becker LE. Intracranial germ cell tumors in children: an immunohistochemical and electron microscopic study. Pediatr Neurosurg. 1991;16:156–62.CrossRefGoogle Scholar
  417. 417.
    Felsberg GJ, Glass JP, Tien RD, et al. Gliomatosis cerebri presenting with optic nerve involvement. Neuroradiology. 1996;38:774–7.PubMedCrossRefGoogle Scholar
  418. 418.
    Ferland RJ, Eyaid W, Collura RV, et al. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat Genet. 2004;36:1008–13.PubMedCrossRefGoogle Scholar
  419. 419.
    Ferner RE. National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Arch Neurol. 1988;45:575–8.CrossRefGoogle Scholar
  420. 420.
    Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 2007;6:340–51.PubMedCrossRefGoogle Scholar
  421. 421.
    Ferner RE, Chaudhuri R, Bingham J, et al. MRI in neurofibromatosis I: the nature and evolution of increased T2 weighted lesions and their relationship to intellectual impairment. J Neurol Neurosurg Psychiatry. 1993;56:492–5.PubMedPubMedCentralCrossRefGoogle Scholar
  422. 422.
    Ferrer JA. General fibrosis syndrome. In: Fells P, editor. The second congress of the International Strabismological Association: transactions of a congress held at Marseilles, France, 20 May 1974. Marseilles: Diffusion Generale de Librairie; 1976. p. 352–61.Google Scholar
  423. 423.
    Feucht M, Kluwe L, Mautner V-F, et al. Correlation of nonsense and frameshift mutations with severity of retinal abnormalities in neurofibromatosis-2. Arch Ophthalmol. 2008;126:1376–80.PubMedCrossRefGoogle Scholar
  424. 424.
    Feucht M, Richard G, Mautner VF. Neurofibromatosis 2 leads to choroidal hyperfluorescence in fluorescein angiography. Graefes Arch Clin Exp Ophthalmol. 2007;245:949–53.PubMedCrossRefGoogle Scholar
  425. 425.
    Feuerstein RC, Mims LC. Linear nevus sebaceous with convulsions and mental retardation. Am J Dis Child. 1963;104:675–9.Google Scholar
  426. 426.
    Fielder A. Ophthalmic complications of spina bifida and hydrocephalus. Eye. 1991;5(pt. 3):vii. Editorial.PubMedCrossRefGoogle Scholar
  427. 427.
    Figueroa RE, Gammal TE, Brooks BS, et al. MR findings on primitive neuroectodermal tumors. J Comput Assist Tomogr. 1989;13:773–8.CrossRefGoogle Scholar
  428. 428.
    Filippi CG, Bos A, Nickerson JP, et al. Magnetic resonance diffusion tensor imaging (MRDTI) of the optic nerve and optic radiations at 3T in children with neurofibromatosis type 1 (NF-1). Pediatr Radiol. 2012;42:168–74.PubMedCrossRefGoogle Scholar
  429. 429.
    Fink KR, Thapa MM, Ishak GE, et al. Neuroimaging of pediatric central nervous system cytomegalovirus infection. Radiographics. 2010;30:1779–96.PubMedCrossRefGoogle Scholar
  430. 430.
    Fisher MJ, Loguidice M, Gutmann DH, et al. Visual outcomes in children with neurofibromatosis type 1-associated optic pathway glioma following chemotherapy: a multicenter retrospective analysis. Neuro Oncol. 2012;14:790–7.PubMedPubMedCentralCrossRefGoogle Scholar
  431. 431.
    Fitz C. Magnetic resonance imaging of pediatric brain tumors. Top Magn Reson Imaging. 1993;5:174–89.PubMedCrossRefGoogle Scholar
  432. 432.
    Fivenson DP, Lucky AW, Iannoccone S. Sjögren-Larsson syndrome associated with the Dandy–Walker malformation: report of a case. Pediatr Dermatol. 1989;6:312–5.PubMedCrossRefGoogle Scholar
  433. 433.
    Foltz EL, Blanks JP. Symptomatic low intracranial pressure in shunted hydrocephalus. J Neurosurg. 1988;68:401–8.PubMedCrossRefGoogle Scholar
  434. 434.
    Förster E. Reelin, neuronal polarity and process orientation of cortical neurons. Neuroscience. 2014;269:102–11.PubMedCrossRefGoogle Scholar
  435. 435.
    Fox AJ. Angiography for third nerve palsy in children. J Clin Neuroophthalmol. 1989;9:37–8.PubMedGoogle Scholar
  436. 436.
    Fox JW, Lamperti ED, Eksioglu YZ, et al. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron. 1998;21:1315–25.PubMedCrossRefGoogle Scholar
  437. 437.
    Fraenzer JT, Pan H, Minimo Jr L, et al. Overexpression of the NF2 gene inhibits schwannoma cell proliferation through promoting PDGFR degradation. Int J Oncol. 2003;23:1493–500.PubMedGoogle Scholar
  438. 438.
    Fraioli B, Ferrante L, Celli P. Pituitary adenomas with onset during puberty. J Neurosurg. 1983;59:590–5.PubMedCrossRefGoogle Scholar
  439. 439.
    Franz DN, Leonard J, Tudor C, et al. Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. Ann Neurol. 2006;59:490–8.PubMedCrossRefGoogle Scholar
  440. 440.
    Friede R. Developmental neuropathology. Berlin: Springer; 1989.CrossRefGoogle Scholar
  441. 441.
    Frieden IJ, Reese V, Cohen D. PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Arch Dermatol. 1996;132:307–11.PubMedCrossRefGoogle Scholar
  442. 442.
    Friedman HS, Oakes WJ, Bigner SH, et al. Medulloblastoma tumor: biological and clinical perspectives. J Neurooncol. 1991;11:1–15.PubMedCrossRefGoogle Scholar
  443. 443.
    Friedman JM. Epidemiology of neurofibromatosis type 1. Am J Med Genet. 1999;89:1–6.PubMedCrossRefGoogle Scholar
  444. 444.
    Frisén L, Jensen C. How robust is the optic chiasm? Perimetric and neuro-imaging correlations. Acta Neurol Scand. 2008;117:198–204.PubMedCrossRefGoogle Scholar
  445. 445.
    Frizzell RT, Kuhn F, Morris R, et al. Screening for ocular hemorrhages in patients with ruptured cerebral aneurysms: a prospective study. Neurosurgery. 1997;41:529–34.PubMedGoogle Scholar
  446. 446.
    Fry JA, Alvarellos A, Fink CW, et al. Intracranial findings in progressive facial hemiatrophy. J Rheumatol. 1992;19:956–8.PubMedGoogle Scholar
  447. 447.
    Fryer AE, Chalmers A, Connor JM, et al. Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet. 1987;1:659.PubMedCrossRefGoogle Scholar
  448. 448.
    Fu EX, Kosmorsky GS, Traboulsi EI. Giant intracavernous carotid aneurysm presenting as isolated sixth nerve palsy in an infant. Br J Ophthalmol. 2008;92:576–7.PubMedCrossRefGoogle Scholar
  449. 449.
    Fujisawa I, Kikuchi K, Nishimura K, et al. Transection of the pituitary stalk: development of an ectopic posterior pituitary lobe assessed with MR imaging. Radiology. 1987;165:487–9.PubMedCrossRefGoogle Scholar
  450. 450.
    Furman JM, Wall III C, Pang D. Vestibular function in periodic alternating nystagmus. Brain. 1990;113:1425–39.PubMedCrossRefGoogle Scholar
  451. 451.
    Gaffney CC, Sloane JP, Bradley NJ, et al. Primitive neuroectodermal tumours of the cerebrum. J Neurooncol. 1985;3:23–33.PubMedCrossRefGoogle Scholar
  452. 452.
    Gajdosova E, Biswas S, Ashworth J, Lloyd CI. Amblyogenic factors in children with neurofibromatosis type 1 and their relation to the management of optic pathway gliomas. Presented as a poster at the American Academy of Pediatric Ophthalmology and Strabismus, New Orleans, Louisiana, 25–29 March 2015.Google Scholar
  453. 453.
    Galanarud D, Chinot O, Nicoli F, et al. Use of proton magnetic resonance spectroscopy of the brain to differentiate gliomatosis cerebri from low-grade glioma. J Neurosurg. 2003;98:269–76.CrossRefGoogle Scholar
  454. 454.
    Galetta SL, Smith JL. Chronic isolated sixth nerve palsies. Arch Neurol. 1989;46:79–82.PubMedCrossRefGoogle Scholar
  455. 455.
    Galluzzi P, Cerase A, Strambi M, et al. Hemimegalencephaly in tuberous sclerosis complex. J Child Neurol. 2002;17:677–80.PubMedCrossRefGoogle Scholar
  456. 456.
    Ganesan V, Kirkham FJ, editors. Stroke and cerebrovascular disease in childhood. London: Mac Keith Press; 2011.Google Scholar
  457. 457.
    Garcia DM, Latifi HR, Simpson JR, et al. Astrocytomas of the cerebellum in children. J Neurosurg. 1989;71:661–4.PubMedCrossRefGoogle Scholar
  458. 458.
    Garg BP. Colpocephaly: an error of morphogenesis? Arch Neurol. 1982;39:243–6.PubMedCrossRefGoogle Scholar
  459. 459.
    Gass JD. Cavernous hemangioma of the retina: a neuro-oculocutaneous syndrome. Am J Ophthalmol. 1971;71:799–814.PubMedCrossRefGoogle Scholar
  460. 460.
    Gass JD. Stereoscopic atlas of diffuse macular disease: diagnosis and treatment, vol. 2. 3rd ed. St. Louis: CV Mosby; 1990. p. 640–8.Google Scholar
  461. 461.
    Gass JD. Stereoscopic atlas of macular diseases: diagnosis and treatment. 3rd ed. St. Louis, MO: CV Mosby; 1987. p. 420–1.Google Scholar
  462. 462.
    Gass JD. Stereoscopic atlas of macular diseases: diagnosis and treatment. 4th ed. St Louis: CV Mosby; 1997. p. 836–9.Google Scholar
  463. 463.
    Gaston H. Ophthalmic complications of spina bifida and hydrocephalus. Eye. 1991;5(pt. 3):279–90.PubMedCrossRefGoogle Scholar
  464. 464.
    Gatei M, Shkedy D, Khanna KK, et al. Ataxia-telangiectasia: chronic activation of damage-responsive functions is reduced by alpha-lipoic acid. Oncogene. 2001;20:289–94.PubMedCrossRefGoogle Scholar
  465. 465.
    Gatti RA, Berkel I, Boder E, et al. Localization of an ataxia-telangiectasia gene to chromosome 11q22–23. Nature. 1988;336:577.PubMedCrossRefGoogle Scholar
  466. 466.
    Gayre GS, Scott IU, Feuer W, et al. Long-term visual outcome in patients with anterior visual pathway gliomas. J Neuroophthalmol. 2001;21:1–7.PubMedCrossRefGoogle Scholar
  467. 467.
    Ge M, Li SW, Wang S, et al. The role of diffusion tensor tractography in the surgical treatment of pediatric optic chiasmatic glioma. J Neurooncol. 2015;122(2):357–66.PubMedCrossRefGoogle Scholar
  468. 468.
    Gelabert-Gonzalez M, Bollar-Zabala A, Prieto-Gonzalez A, et al. Neurofibromatosis and stenosis of the aqueduct of Sylvius. A magnetic resonance assessment. Rev Med Univ Navarra. 1990;34:17–9.PubMedGoogle Scholar
  469. 469.
    Gellis SS, Feingold M, Boder E, Sedgewick R. Ataxia-telangiectasia. Am J Dis Child. 1969;117:317–8.Google Scholar
  470. 470.
    Gesite-de Leon B, Demer JL. Sclerosing cavernous hemangioma of the cavernous sinus mimicking congenital fibrosis of the extraocular muscles. J AAPOS. 2014;18:299–301.PubMedCrossRefGoogle Scholar
  471. 471.
    Geyer JR. Infant brain tumors. In: Berger MS, editor. Pediatric neuro-oncology, neurosurgery clinics of North America. Philadelphia: WB Saunders; 1992. p. 781–91.Google Scholar
  472. 472.
    Ghose S. Optic nerve changes in hydrocephalus. Trans Ophthalmol Soc U K. 1983;103(pt. 2):217–20.PubMedGoogle Scholar
  473. 473.
    Ghosh PS, Rothner AD, Emch TM, et al. Cerebral vasculopathy in children with neurofibromatosis type 1. J Child Neurol. 2013;28:95–101.PubMedCrossRefGoogle Scholar
  474. 474.
    Gilbert JN, Jones KL, Rorke LB, et al. Central nervous system anomalies associated with meningomyelocele, hydrocephalus, and the Arnold-Chiari malformation: reappraisal of theories regarding the pathogenesis of posterior neural tube closure defects. Neurosurgery. 1986;18:559–64.PubMedCrossRefGoogle Scholar
  475. 475.
    Gilbertson RJ, Hill DA, Hernan R, et al. ERBB1 is amplified and overexpressed in high-grade diffusely infiltrative pediatric brain stem glioma. Clin Cancer Res. 2003;9:3620–4.PubMedGoogle Scholar
  476. 476.
    Gilles FH, Sobel E, Leviton A, et al. Epidemiology of seizures in children with brain tumors. The Childhood Brain Tumor Consortium. J Neurooncol. 1992;12:53–68.PubMedCrossRefGoogle Scholar
  477. 477.
    Gingold SI, Winfield JA. Oscillopsia and primary cerebellar ectopia: case report and review of the literature. Neurosurgery. 1991;29:932–6.PubMedCrossRefGoogle Scholar
  478. 478.
    Glanzmann C, Seelentag W. Radiotherapy for tumours of the pineal region and suprasellar germinomas. Radiother Oncol. 1989;16:31–40.PubMedCrossRefGoogle Scholar
  479. 479.
    Glauser TA, Packer RJ. Cognitive deficits in long-term survivors of childhood brain tumors. Childs Nerv Syst. 1991;7:2–12.PubMedCrossRefGoogle Scholar
  480. 480.
    Gleeson J, Keeler L, Parisi M, et al. Molar tooth sign of the midbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet A. 2005;136:416–7.Google Scholar
  481. 481.
    Goh S, Butler W, Thiele EA. Subependymal giant cell tumors in tuberous sclerosis complex. Neurology. 2004;63:1457–61.PubMedCrossRefGoogle Scholar
  482. 482.
    Goh S, Kwiatkowski DJ, Dorer DJ, et al. Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex. Neurology. 2005;65:235–8.PubMedCrossRefGoogle Scholar
  483. 483.
    Goldberg MF, Custis PH. Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome). Ophthalmology. 1993;100:1645–54.PubMedCrossRefGoogle Scholar
  484. 484.
    Goldenberg-Cohen N, Ehrenberg M, Toledano H, et al. Preoperative visual loss is the main cause of irreversible poor vision in children with a brain tumor. Front Neurol. 2011;2:1–8.CrossRefGoogle Scholar
  485. 485.
    Goldstein SJ, Lee S, Young AB, Guidry GJ. Aplasia of the cervical internal carotid artery and malformation of the circle of Willis associated with Klippel-Trenaunay syndrome. J Neurosurg. 1984;61:786–9.PubMedCrossRefGoogle Scholar
  486. 486.
    Goldwein JR, Glauser TA, Packer RJ, et al. Recurrent intracranial ependymomas in children: survival, patterns of failure, and prognostic factors. Cancer. 1990;66:557–63.PubMedCrossRefGoogle Scholar
  487. 487.
    Goldwein JW, Leahy JM, Packer RJ, et al. Intracranial ependymomas in children. Int J Radiat Oncol Biol Phys. 1990;19:1497–502.PubMedCrossRefGoogle Scholar
  488. 488.
    Gomez MR. Diagnostic criteria. In: Gomez MR, editor. Tuberous sclerosis. 2nd ed. New York: Raven; 1985. p. 63–74.Google Scholar
  489. 489.
    Gonzalez LF, Bristol RE, Porter RW, et al. De novo presentation of an arteriovenous malformation: case report and review of the literature. J Neurosurg. 2005;102:726–9.PubMedCrossRefGoogle Scholar
  490. 490.
    Good WV, Brodsky MC, Edwards MS, et al. Bilateral retinal hamartomas in neurofibromatosis type 2. Br J Ophthalmol. 1991;75:190.PubMedPubMedCentralCrossRefGoogle Scholar
  491. 491.
    Good WV, Hoyt CS. Optic nerve shadow enlargement in the Klippel-Trenaunay-Weber syndrome. J Pediatr Ophthalmol Strabismus. 1989;26:288–90.Google Scholar
  492. 492.
    Good WV, Jan JE, DeSa L, et al. Cortical visual impairment in children. Surv Ophthalmol. 1994;38:351–64.PubMedCrossRefGoogle Scholar
  493. 493.
    Goodman M, Lamm SH, Engel A, et al. Cortical tuber count: a biomarker indicating neurologic severity of tuberous sclerosis complex. J Child Neurol. 1997;12:85–90.PubMedCrossRefGoogle Scholar
  494. 494.
    Gorlin RJ, Pindborg JJ, Cogen MM. Oculoauriculovertebral spectrum. Syndromes of the head and neck. 3rd ed. New York: McGraw-Hill; 1989. p. 641–9.Google Scholar
  495. 495.
    Gorovoy IR, Campomanes ADA. A potential life-saving diagnosis-recognizing Turcot syndrome. J AAPOS. 2014;18:186–8.PubMedCrossRefGoogle Scholar
  496. 496.
    Gorovoy IR, Layer N, de Alba Campomanes AG. Retinal dysplasia of holoprosencephaly. J Pediatr Ophthalmol. 2014;51:e16–8.Google Scholar
  497. 497.
    Gossman DM, Berlin JA, Weinstein MA, et al. Spontaneous direct carotid-cavernous fistula in childhood. Ophthalmic Plast Reconstr Surg. 1993;9:62–5.CrossRefGoogle Scholar
  498. 498.
    Gottschalk S, Tavakolian R, Buske A, et al. Spontaneous remission of chiasmatic/hypothalamic masses in neurofibromatosis type 1: report of two cases. Neuroradiology. 1999;41:199–201.PubMedCrossRefGoogle Scholar
  499. 499.
    Gould DB, Phalen FC, Breedveld GJ. Mutations in Col4AI cause perinatal cerebral hemorrhage and porencephaly. Science. 2005;308:1167–70.PubMedCrossRefGoogle Scholar
  500. 500.
    Gould DB, Phalan FC, van Mil SE, et al. Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med. 2006;354:1489–96.PubMedCrossRefGoogle Scholar
  501. 501.
    Granata T, Battaglia G, D’Incerta L, et al. Schizencephaly: clinical findings. In: Guerrini R, editor. Dysplasias of the cerebral cortex and epilepsy. Philadelphia: Lippincott-Raven; 1996. p. 407–15.Google Scholar
  502. 502.
    Granata T, Farina L, Faiella A, et al. Familial schizencephaly associated with EMX2 mutation. Neurology. 1997;48:1403–6.PubMedCrossRefGoogle Scholar
  503. 503.
    Grand MG, Kaine J, Fulling K, et al. Cerebroretinal vasculopathy. Ophthalmology. 1988;95:649–59.PubMedCrossRefGoogle Scholar
  504. 504.
    Grasso CS, Tang Y, Truffaux N, et al. Functionally defined therapeutic targets in diffuse intrinsic pontine glioma. Nat Med. 2015;21:555–9.PubMedPubMedCentralCrossRefGoogle Scholar
  505. 505.
    Griffiths D, Blaser S, Boodram MB, et al. Choroid plexus size in young children with Sturge-Weber syndrome. AJNR Am J Neuroradiol. 1996;17:175–80.PubMedGoogle Scholar
  506. 506.
    Griffiths PD, Welch RJ, Gardner-Medwin D, et al. The radiological features of hemimegalencephaly including three cases associated with Proteus syndrome. Neuropediatrics. 1994;25:140–4.PubMedCrossRefGoogle Scholar
  507. 507.
    Grinberg I, Millen JK. The ZIC family in development and disease. Clin Genet. 2005;67:290–6.PubMedCrossRefGoogle Scholar
  508. 508.
    Groesser L, Herschberger E, Ruetten A, et al. Postzygotic HRAS and KRAS mutations cause nevus sebaceus and Schimmelpenning syndrome. Nat Genet. 2012;44:783–7.PubMedCrossRefGoogle Scholar
  509. 509.
    Grüter T, Grüter M. An underestimated handicap: congenital prosopagnosia. EUPO course 2008, Geneva, 5–7 Sept 2008. p. 51–3.Google Scholar
  510. 510.
    Grüter M, Grüter T, Bell V, et al. Hereditary prosopagnosia: the first case series. Cortex. 2007;43:734–9.CrossRefGoogle Scholar
  511. 511.
    Guerreiro MM, Andermann E, Guerrini R, et al. Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment. Ann Neurol. 2000;48:39–48.PubMedCrossRefGoogle Scholar
  512. 512.
    Guerrini R, Dobyns WB. Malformations of cortical development: clinical features and genetic causes. Lancet Neurol. 2014;13:710–26.PubMedCrossRefGoogle Scholar
  513. 513.
    Guerrini R, Dobyns WB, Barkovich AJ. Abnormal development of the human cerebral cortex: genetics, functional consequences, and treatment options. Trends Neurosci. 2008;31:154–62.PubMedCrossRefGoogle Scholar
  514. 514.
    Guerrini R, Marini C. Genetic malformations of cortical development. Exp Brain Res. 2006;173:322–3.PubMedCrossRefGoogle Scholar
  515. 515.
    Guilding C, McNair K, Stone TW, et al. Restored plasticity in a mouse model of neurofibromatosis type 1 via inhibition of hyperactive ERK and CREB. Eur J Neurosci. 2007;25:99–105.PubMedCrossRefGoogle Scholar
  516. 516.
    Gump WC. Meningiomas of the pediatric skull base: a review. J Neurol Surg B Skull Base. 2015;76:66–73.PubMedGoogle Scholar
  517. 517.
    Guo DC, Pannu H, Tran-Fadulu V, et al. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet. 2007;39:1488–93.PubMedCrossRefGoogle Scholar
  518. 518.
    Guo DC, Papke CL, Tran-Fadulu V, et al. Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and moyamoya disease, along with thoracic aorta disease. Am J Hum Genet. 2009;84:617–27.PubMedPubMedCentralCrossRefGoogle Scholar
  519. 519.
    Gupta M, Dinakaran S, Chan TK. Congenital Horner syndrome and hemiplegia secondary to carotid dissection. J Pediatr Ophthalmol Strabismus. 2005;42:122–4.PubMedGoogle Scholar
  520. 520.
    Gutmann DH, Avery R, Ferner RE, Listernick R. Visual function and optic pathway glioma: a critical response. Arch Ophthalmol. 2012;170:1878–88.Google Scholar
  521. 521.
    Guy JR, Friedman WF, Mickle JP. Bilateral trochlear nerve paresis in hydrocephalus. J Clin Neuroophthalmol. 1989;9:105–11.PubMedGoogle Scholar
  522. 522.
    Hager BC, Dyme IZ, Guertin SR, et al. Linear sebaceous nevus syndrome: megalencephaly and heterotopic gray matter. Pediatr Neurol. 1991;7:45–9.PubMedCrossRefGoogle Scholar
  523. 523.
    Hahn JS, Plawner LL. Evaluation and management of children with holoprosencephaly. Pediatr Neurol. 2004;31:79–88.PubMedCrossRefGoogle Scholar
  524. 524.
    Hain TC, Luebke A. Phoria adaptation in patients with cerebellar lesions. Invest Ophthalmol Vis Sci. 1990;31:1394–7.PubMedGoogle Scholar
  525. 525.
    Halabuda A, Klasa L, Kwaitkowski S, et al. Schizencephaly-diagnostics and clinical dilemmas. Childs Nerv Syst. 2015;31:551–6.PubMedPubMedCentralCrossRefGoogle Scholar
  526. 526.
    Halbach VV, Higashida RT, Hieshima GB. Treatment of intracranial aneurysm by balloon embolization therapy. Semin Interv Radiol. 1987;4:261–8.CrossRefGoogle Scholar
  527. 527.
    Haltia M, Leivo I, Somer H, et al. Muscle-eye-brain disease: a neuropathological study. Ann Neurol. 1997;41:173–80.PubMedCrossRefGoogle Scholar
  528. 528.
    Hamed LM. Alternating skew on lateral gaze simulating bilateral superior oblique overaction. Binocul Vis Strabismus Q. 1992;7:83–8.Google Scholar
  529. 529.
    Hamed LM. Superior oblique overaction: some nosologic considerations. Am Orthopt J. 1993;43:82–6.Google Scholar
  530. 530.
    Hamed LM, Fang E, Fanous M, et al. The prevalence of neurological dysfunction in children with strabismus who have superior oblique overaction. Ophthalmology. 1993;100:1483–7.PubMedCrossRefGoogle Scholar
  531. 531.
    Hamed LM, Maria BL, Briscoe ST, Shamis D. Intact binocular function and absent ocular torsion in children with alternating skew on lateral gaze. J Pediatr Ophthalmol Strabismus. 1996;33:164–6.PubMedGoogle Scholar
  532. 532.
    Happle R. Nevus sebaceus is a mosaic rasopathy. J Invest Dermatol. 2013;33:597–600.CrossRefGoogle Scholar
  533. 533.
    Harbert MJ, Yeh-Nayre LA, O’Halloran HS, et al. Unrecognized visual field deficits in children with primary central nervous system brain tumors. J Neurooncol. 2012;107:545–9.Google Scholar
  534. 534.
    Harbert MJ, Tam WE, Glass HC, et al. Hypothermia is correlated with seizure absence in perinatal stroke. J Child Neurol. 2011;26:1126–30.Google Scholar
  535. 535.
    Harding BN, Copp AJ. Malformations. In: Graham DI, Lantos PL, editors. Greenfield’s neuropathology. London: Edward Arnold; 2002. p. 376–86.Google Scholar
  536. 536.
    Hardwig P, Robertson DM. von Hippel-Lindau disease: a familial, often lethal, multisystem phakomatosis. Ophthalmology. 1984;91:263–70.PubMedCrossRefGoogle Scholar
  537. 537.
    Harrington MH, Casella SJ. Pituitary tumors in childhood. Curr Opin Endocrinol Diab Obes. 2012;19:63–7.CrossRefGoogle Scholar
  538. 538.
    Hassanein SM, Abbas YA, Monib AM, El Alfy MS. Hemihydranencephaly syndrome: case report and review. Dev Neurorehabil. 2011;14:323–9.PubMedCrossRefGoogle Scholar
  539. 539.
    Haverkamp F, Zerres K, Ostertun B, et al. Familial schizencephaly: further delineation of a rare disorder. J Med Genet. 1995;32:242–4.PubMedPubMedCentralCrossRefGoogle Scholar
  540. 540.
    He M-S, Yen P-S, Chu S-Y, et al. Relapsing reversible posterior leukoencephalopathy syndrome. Eye. 2006;20:1397–8.PubMedCrossRefGoogle Scholar
  541. 541.
    HeadSmart: Be Brain Tumor Aware. A new guideline from the Royal College of Paediatrics and Child Health with a national awareness campaign accelerates brain tumor diagnosis in UK children—“HeadSmart: Be Brain Tumor Aware”. Neuro Oncol. 2015; Epub ahead of print.Google Scholar
  542. 542.
    Healey EA, Barnes PD, Jupsky WJ, et al. The prognostic significance of postoperative residual tumor in ependymoma. Neurosurgery. 1991;28:666–71.PubMedCrossRefGoogle Scholar
  543. 543.
    Hedlund G. Cerebral sinovenous thrombosis in pediatric practice. Pediatr Radiol. 2013;43:173–88.PubMedCrossRefGoogle Scholar
  544. 544.
    Hehr U, Pineda-Alvarez DE, Uyanik G, et al. Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly. Hum Genet. 2010;127:555–61.PubMedPubMedCentralCrossRefGoogle Scholar
  545. 545.
    Heidenreich R, Natowicz M, Hainline BE, et al. Acute extrapyramidal syndrome in methymalonic academia: “metabolic stroke” involving the globus pallidus. J Pediatr. 1988;113:1022–7.PubMedCrossRefGoogle Scholar
  546. 546.
    Hered RW. Tuberous sclerosis. Arch Ophthalmol. 1992;110:410.PubMedCrossRefGoogle Scholar
  547. 547.
    Herman DC, Bartley GB, Bullock JD. Ophthalmic findings of hydranencephaly. J Pediatr Ophthalmol Strabismus. 1988;25:106–11.PubMedGoogle Scholar
  548. 548.
    Hernando M, Urbasos M, Amarillo VE, et al. Wildervanck’s syndrome with severe inner ear dysplasia and agenesis of the right internal carotid artery. Int J Pediatr Otorhinolaryngol. 2014;78:704–6.PubMedCrossRefGoogle Scholar
  549. 549.
    Herskowitz J, Rosman P, Wheeler CB. Colpocephaly: clinical, radiologic, and pathogenetic aspects. Neurology. 1985;35:1594–8.PubMedCrossRefGoogle Scholar
  550. 550.
    Hertle RW, Quinn GE, Katowitz JA. Ocular and adnexal findings in patients with facial microsomias. Ophthalmology. 1992;99:114–9.PubMedCrossRefGoogle Scholar
  551. 551.
    Hetts SW, Keenan K, Fullerton JH, et al. Pediatric intracranial nongalenic pial arteriovenous fistulas: clinical features, angioarchitecture, and outcomes. AJNR Am J Neuroradiol. 2012;33:1710–9.PubMedCrossRefGoogle Scholar
  552. 552.
    Heuer GG, Jackson EM, Magge SN, et al. Surgical management of pediatric brain tumors. Expert Rev Anticancer Ther. 2007;7:561–8.CrossRefGoogle Scholar
  553. 553.
    Heyer GL, Millar WS, Ghatan S, et al. The neurologic aspects of PHACE: case report and review of the literature. Pediatr Neurol. 2006;35:419–23.PubMedCrossRefGoogle Scholar
  554. 554.
    Hinchey J, Chaves C, Appignani B, et al. A reversible posterior leukoencephalopathy syndrome. N Engl J Med. 1996;334:494–500.PubMedCrossRefGoogle Scholar
  555. 555.
    Hinkley LBN, Marco EJ, Findlay AM, et al. The role of corpus callosum development in functional connectivity and cognitive processing. PLoS One. 2012;7, e39804.PubMedPubMedCentralCrossRefGoogle Scholar
  556. 556.
    Hino N, Kobayashi M, Shibata N, et al. Clinicopathological study on eyes from cases of Fukuyama type congenital muscular dystrophy. Brain Dev. 2001;23:97–107.PubMedCrossRefGoogle Scholar
  557. 557.
    Hinsdale: Central Brain Tumor Registry of the US, 2005.Google Scholar
  558. 558.
    Hodozuka A, Tsuda H, Hashizume K, et al. Focal cortical dysplasia: pathophysiological approach. Childs Nerv Syst. 2006;22:827–33.PubMedCrossRefGoogle Scholar
  559. 559.
    Hoffmann GF, Gibson KM, Trefz FK, et al. Neurologic manifestations of organic acid disorders. Eur J Pediatr. 1994;153 Suppl 1:S94–100.PubMedCrossRefGoogle Scholar
  560. 560.
    Högen T, Chan W-M, Riedel E, et al. Wildervanck’s syndrome and mirror movements: a congenital disorder of axon migration. J Neurol. 2012;259:761–3.PubMedCrossRefGoogle Scholar
  561. 561.
    Hogg D, Gorin MB, Heinzmann C. Nucleotide sequences for the C-DNA of the bovine Beta-B2 crystalline and assignment of the orthologous human locus to chromosome 22. Curr Eye Res. 1987;6:1335–42.PubMedCrossRefGoogle Scholar
  562. 562.
    Hogg JE, Schoenberg DS. Paralysis of divergence in an adult with aqueductal stenosis. Arch Neurol. 1979;36:511–2.PubMedCrossRefGoogle Scholar
  563. 563.
    Holmstrom G, Taylor D. Capillary haemangiomas in association with morning glory disc anomaly. Acta Ophthalmol Scand. 1998;76:613–6.PubMedCrossRefGoogle Scholar
  564. 564.
    Holschneider AM, Bliesener JA, Abel M. Brain stem dysfunction in Arnold-Chiari II syndrome. Z Kinderchir. 1990;45:67–71.PubMedGoogle Scholar
  565. 565.
    Hong SE, Shugart YY, Huang DT, et al. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human reelin mutations. Nat Genet. 2000;26:93–6.PubMedCrossRefGoogle Scholar
  566. 566.
    Horbinski C, Hamilton RL, Nikoforov Y, et al. Association of molecular alterations including BRAF, with biology and outcome in pilocytic astrocytomas. Acta Neuropathol. 2010;119:641–9.PubMedCrossRefGoogle Scholar
  567. 567.
    Horowitz MB, Hall WA. Central nervous system germinomas. A review. Arch Neurol. 1991;48:652–7.PubMedCrossRefGoogle Scholar
  568. 568.
    Horowitz ME, Mulhern RK, Kun LE, et al. Brain tumors in the very young child. Cancer. 1988;61:428–34.PubMedCrossRefGoogle Scholar
  569. 569.
    Horton JC, Harsh IV GR, Fisher JW, et al. Von Hippel-Lindau disease and erythrocytosis: radioimmunoassay of erythropoietin in cyst fluid from a brainstem hemangioblastoma. Neurology. 1991;41:753–4.PubMedCrossRefGoogle Scholar
  570. 570.
    Hosking KA, Leung H, Andrews I, Sachdev R. Ataxia telangiectasia in a three-year-old girl. Pediatr Neurol. 2014;50:279–80.PubMedCrossRefGoogle Scholar
  571. 571.
    Houser OW, Gomez MR. CT and MR imaging of intracranial tuberous sclerosis. J Dermatol. 1992;19:904–8.PubMedCrossRefGoogle Scholar
  572. 572.
    Hoyt WF. Congenital homonymous hemianopia. Neuroophthalmol Jpn. 1985;2:252–60.Google Scholar
  573. 573.
    Hoyt CS. Delayed visual maturation. J AAPOS. 2004;8:215–9.PubMedCrossRefGoogle Scholar
  574. 574.
    Hoyt CS, Billson FA. Buphthalmos in neurofibromatosis: is it an expression of regional giantism? J Pediatr Ophthalmol Strabismus. 1977;14:228–34.Google Scholar
  575. 575.
    Hoyt CS, Fredrick DR. Serious neurologic disease presenting as comitant esotropia. In: Rosenbaum AL, Santiago AP, editors. Clinical strabismus management. Principles and surgical techniques. Philadelphia: W.B. Saunders; 1999. p. 152–8.Google Scholar
  576. 576.
    Hrisolmalos FN, Maturi RK, Pata V. Long-term use of intravitreal bevacizumab (Avastin) for the treatment of von Hippel-Lindau associated retinal hemangioblastomas. Open J Ophthalmol. 2010;4:66–9.CrossRefGoogle Scholar
  577. 577.
    Huang TN, Rofagha S, McDermott MW. Sunken eyes, sagging brain syndrome: bilateral enophthalmos from chronic intracranial hypotension. Ophthalmology. 2011;118:2286–95.CrossRefGoogle Scholar
  578. 578.
    Humphreys RP. Vascular malformations of the brain. In: Check WR, editor. Pediatric neurosurgery: surgery of the pediatric nervous system. Philadelphia: WB Saunders; 1994. p. 524–32.Google Scholar
  579. 579.
    Humphreys RP, Hendrick EB, Hoffman HJ, et al. Choices in the 1990s for the management of pediatric cerebral arteriovenous malformations: study of 50 cases. Pediatr Neurosurg. 1996;25:277–85.PubMedCrossRefGoogle Scholar
  580. 580.
    Huson SM, Acosta MT, Belzberg AJ, et al. The role of surgery in children with neurofibromatosis. J Pediatr Surg. 2001;36:25–9.CrossRefGoogle Scholar
  581. 581.
    Huson SM, Harper PS, Compston DA. Von Recklinghausen neurofibromatosis: clinical and population study in South East Wales. Brain. 1988;111:55–81.CrossRefGoogle Scholar
  582. 582.
    Huson SM, Harper PS, Hourihan MD, et al. Cerebellar haemangioblastoma and von Hippel-Lindau disease. Brain. 1986;109:1297–310.PubMedCrossRefGoogle Scholar
  583. 583.
    Hyman SL, Shores A, North KN. The nature and frequency of cognitive deficits in children with neurofibromatosis type 1. Neurology. 2005;65:1037–44.PubMedCrossRefGoogle Scholar
  584. 584.
    Iannaccone A, McCluney RA, Brewer VR, et al. Visual evoked potentials in children with neurofibromatosis type I. Doc Ophthalmol. 2002;105:63–81.PubMedCrossRefGoogle Scholar
  585. 585.
    Ide C, De Coene B, Gilliard C, et al. Hemorrhagic arachnoid cyst with third nerve paresis: CT and MR findings. Am J Neuroradiol. 1997;18:1407–10.PubMedGoogle Scholar
  586. 586.
    Iijima K, Murakami F, Nakamura K, et al. Hemostatic studies in patients with carbohydrate-deficient glycoprotein syndrome. Thromb Res. 1994;76:193–8.PubMedCrossRefGoogle Scholar
  587. 587.
    Imes RK, Hoyt WF. Magnetic resonance imaging signs of optic nerve gliomas in neurofibromatosis 1. Am J Ophthalmol. 1991;111:729–34.PubMedCrossRefGoogle Scholar
  588. 588.
    Indo Y. Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV. Clinical, biological and molecular aspects of mutations in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth. Clin Auton Res. 2002;12:I20–32.PubMedCrossRefGoogle Scholar
  589. 589.
    Indo Y, Tsuruta M, Hayashida Y, et al. Mutations in the TRKA/ NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat Genet. 1996;13:485–8.PubMedCrossRefGoogle Scholar
  590. 590.
    Inoue N, Watanabe H, Okamura K, et al. Atypical teratoid rhabdoid tumor in the cavernous sinus of a toddler presenting with oculomotor nerve palsy. Childs Nerv Syst. 2014;30:1463–6.PubMedPubMedCentralCrossRefGoogle Scholar
  591. 591.
    Irahara K, Saito Y, Sugai K, et al. Pontine malformation, undecussated pyramidal tracts, and regional polymicrogyria: a new syndrome. Pediatr Neurol. 2014;50:384–8.PubMedCrossRefGoogle Scholar
  592. 592.
    Isaacs HI. Perinatal brain tumors: a review of 250 cases. Pediatr Neurol. 2002;27:249–61.PubMedCrossRefGoogle Scholar
  593. 593.
    Isik U, Basaran S, Dehgan T, Apak M. Corpus callosum agenesis in trisomy 8p11.23 and monosomy 4q34 because of maternal translocation. Pediatr Neurol. 2008;39:55–7.PubMedCrossRefGoogle Scholar
  594. 594.
    Iteiskanen O, Vilkki J. Intracranial arterial aneurysms in children and adolescents. Acta Neurochir (Wien). 1981;59:55–63.CrossRefGoogle Scholar
  595. 595.
    Itoh K, Fushiki S. The role of L1CAM in murine corticogenesis, and the pathogenesis of hydrocephalus. Pathol Int. 2015;65:58–66.PubMedCrossRefGoogle Scholar
  596. 596.
    Itoh T, Magnaldi S, White RM, et al. Neurofibromatosis type 1. The evolution of deep gray and white matter MR abnormalities. AJNR Am J Neuroradiol. 1994;15(8):1513–9.PubMedGoogle Scholar
  597. 597.
    Iwach AG, Hoskins HD, Hetherington A, et al. Analysis of surgical and medical management of glaucoma in Sturge-Weber syndrome. Ophthalmology. 1990;97:904–9.PubMedCrossRefGoogle Scholar
  598. 598.
    Jackson IT, Carbonnel A, Potparic Z. Orbitotemporal neurofibromatosis: classification and treatment. Plast Reconstr Surg. 1993;92:1–11.PubMedCrossRefGoogle Scholar
  599. 599.
    Jacobson LK, Dutton GN. Periventricular leukomalacia: an important cause of visual and ocular motility dysfunction in children. Surv Ophthalmol. 2000;45:1–13.PubMedCrossRefGoogle Scholar
  600. 600.
    Jacoby LB, MacCollin M, Barone R, et al. Frequency and distribution of NF2 mutations in schwannomas. Genes Chromosomes Cancer. 1996;17:45–55.PubMedCrossRefGoogle Scholar
  601. 601.
    Jaglin XH, Poirier K, Saillour Y, et al. Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. Nat Genet. 2009;41:746–52.PubMedPubMedCentralCrossRefGoogle Scholar
  602. 602.
    Jakobiec FA, Rashid A, Lewis K. Massive retinal gliosis in neurofibromatosis type 1. JAMA Ophthalmol. 2015;133:100–2.PubMedCrossRefGoogle Scholar
  603. 603.
    Jalil MF, Tee JW, Han T. Insolated III cranial nerve palsy: a surprising presentation of an acute or chronic haematoma. Brit Med J Case Rep. 2013.doi:  10.1136/bcr-2013-009992.
  604. 604.
    Jallo G. Brainstem gliomas. Childs Nerv Syst. 2006;22:1–2.PubMedCrossRefGoogle Scholar
  605. 605.
    James HE, Nowak TP. Clinical course and diagnosis of migraine headaches in hydrocephalic children. Pediatr Neurosurg. 1992;17:310–6, discussion.CrossRefGoogle Scholar
  606. 606.
    Jamjoom AB, Malabarey T, Jamjoom JA, et al. Cerebro vasculopathy and malignancy: catastrophic complications of radiotherapy for optic nerve glioma in a von Recklinghausen neurofibromatosis patient. Neurosurg Rev. 1996;19:47–51.PubMedCrossRefGoogle Scholar
  607. 607.
    Janotka H, Huczynska B, Szczudrawa J. Buphthalmos without glaucoma in Recklinghausen’s neurofibromatosis. Klin Monatsbl Augenheilkd. 1972;161:301–5.PubMedGoogle Scholar
  608. 608.
    Jansen FE, Notenboom RG, Nellist M, et al. Differential localization of hamarin and tuberin and increased S6 phosphorylation in a tuber. Neurology. 2004;63:1293–5.PubMedCrossRefGoogle Scholar
  609. 609.
    Jenkin RD, Boesel C, Ertel I, et al. Brain stem tumors in childhood: a prospective randomized trial of irradiation with and without adjuvant CCNU, VCR, and prednisone. J Neurosurg. 1987;66:277–85.CrossRefGoogle Scholar
  610. 610.
    Jenkins PF. Chiari malformation. Am Orthopt J. 2005;55:48–51.CrossRefGoogle Scholar
  611. 611.
    Jennings MT, Frenchman M, Shehab T, et al. Gliomatosis cerebri presenting as intractable epilepsy during early childhood. J Child Neurol. 1995;10:37–45.PubMedCrossRefGoogle Scholar
  612. 612.
    Jennings MT, Gelman R, Hochberg F. Intracranial germ cell tumors: natural history and pathogenesis. J Neurosurg. 1985;63:155–67.PubMedCrossRefGoogle Scholar
  613. 613.
    Jereb B, Zupancic N, Petric J. Intracranial germinomas: report of seven cases. Pediatr Hematol Oncol. 1990;7:183–8.PubMedCrossRefGoogle Scholar
  614. 614.
    Jesberg DO, Spencer WH, Hoyt WF. Incipient lesions of von Hippel-Lindau disease. Arch Ophthalmol. 1968;80:632–40.PubMedCrossRefGoogle Scholar
  615. 615.
    Jissendi-Tchofo P, Doherty D, McGillvray G, et al. Pontine tegmental cap dysplasia: MR imaging and diffusion tensory imaging features of impaired axonal navigation. AJNR Am J Neuroradiol. 2009;30:113–9.PubMedCrossRefGoogle Scholar
  616. 616.
    Johannessen CM, Reczek EE, James MR, et al. The NF1 tumor suppressor critically regulates TSC2 and MTOR. Proc Natl Acad Sci U S A. 2005;102:8573–8.PubMedPubMedCentralCrossRefGoogle Scholar
  617. 617.
    Johnston I, Jacobson E, Besser M. The acquired Chiari malformation and syringomyelia following spinal CSF drainage: a study of incidence and management. Acta Neurochir (Wien). 1998;140:417–28.CrossRefGoogle Scholar
  618. 618.
    Jones AC, Shyamsundar MM, Thomas MW, et al. Comprehensive mutation analysis of TSC1 and TSC2 and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet. 1999;64:1305–15.PubMedPubMedCentralCrossRefGoogle Scholar
  619. 619.
    Jones DT, Kocialkowski S, Liu L, et al. Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas. Cancer Res. 2008;68:8673–7.PubMedPubMedCentralCrossRefGoogle Scholar
  620. 620.
    Jong Y-J, Chen T-H. Hemifacial atrophy with intracranial calcification. Pediatr Neurol. 2013;49:72–3.PubMedCrossRefGoogle Scholar
  621. 621.
    Jordan RM, Kendall JW, McClung M, et al. Concentration of human chorionic gonadotropin in the cerebrospinal fluid of patients with germinal cell hypothalamic tumors. Pediatrics. 1980;65:121–4.PubMedGoogle Scholar
  622. 622.
    Joshi A, Lancelot M, Bhattacharjee NR, et al. Extensive plexiform neurofibroma in a premature neonate. Clin Med Res. 2015;13:36–40.PubMedPubMedCentralCrossRefGoogle Scholar
  623. 623.
    Jost CJ, Gloviczki P, Edwards WD, et al. Aortic aneurysms in children and young adults with tuberous sclerosis: report of two cases and review of the literature. J Vasc Surg. 2001;33:639–42.PubMedCrossRefGoogle Scholar
  624. 624.
    Juranek J, Salman MS. Anomalous development of brain structure and function in spina bifida myelomeningocele. Dev Disabil Res Rev. 2010;16:23–30.PubMedPubMedCentralCrossRefGoogle Scholar
  625. 625.
    Kaczala JW, Messer MA, Poskitt KJ, et al. Therapy resistant neonatal seizures, linear vesicular rash, and unusually early neuroradiologic changes: incontinentia pigmenti: case report, literature review, and insight into pathogenesis. Eur J Pediatr. 2008;167:979–83.PubMedCrossRefGoogle Scholar
  626. 626.
    Kageyama N, Belsky R. Ectopic pinealoma in the chiasma region. Neurology. 1961;11:318–27.PubMedGoogle Scholar
  627. 627.
    Kahlen WG, Maher ER. The VHL tumor-suppressor gene paradigm. Trends Genet. 1998;14:423–6.CrossRefGoogle Scholar
  628. 628.
    Kaiser-Kupfer MI, Freidlin V, Datiles MB, et al. The association of posterior capsular lens opacities with bilateral acoustic neuromas in patients with neurofibromatosis type 2. Arch Ophthalmol. 1989;107:541–4.PubMedCrossRefGoogle Scholar
  629. 629.
    Kalidas K, Behrouz R. Inherited metabolic disorders and cerebral infarction. Expert Rev Neurother. 2008;11:1731–41.CrossRefGoogle Scholar
  630. 630.
    Kalina KB, Woldenberg R. Burkitt’s lymphoma of the skull base presenting as cavernous sinus syndrome in early childhood. Pediatr Radiol. 1996;26:416–7.PubMedCrossRefGoogle Scholar
  631. 631.
    Kamada F, Aoki Y, Narisawa A, et al. A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. J Hum Genet. 2011;56:34–40.PubMedCrossRefGoogle Scholar
  632. 632.
    Kan P, Liu JK, Hedlund G, et al. The role of diffusion-weighted magnetic resonance imaging in pediatric brain tumors. Childs Nerv Syst. 2006;22:1435–9.PubMedCrossRefGoogle Scholar
  633. 633.
    Kandt RS. Tuberous sclerosis: the next step. J Child Neurol. 1993;8:107–11.PubMedCrossRefGoogle Scholar
  634. 634.
    Kandt RS, Steingold S, Wall S, et al. The majority of tuberous sclerosis (TSC) families show no evidence for linkage to purported linked foci, but 1 family sublocalizes TSC on chromosome 9. Ann Neurol. 1992;32:457. Abstract.Google Scholar
  635. 635.
    Kanter RJ, Graham M, Fairbrother D, Smith SV. Sudden cardiac death in young children with neurofibromatosis type 1. J Pediatr. 2006;149:718–20.PubMedCrossRefGoogle Scholar
  636. 636.
    Kanter WR, Eldridge R, Fabricant R, et al. Central neurofibromatosis with bilateral acoustic neuroma: genetic, clinical and biochemical distinctions from peripheral neurofibromatosis. Neurology. 1980;30:851–9.PubMedCrossRefGoogle Scholar
  637. 637.
    Karadimas P, Hatzispasou E, Bouzas EA. Retinal vascular abnormalities in neurofibromatosis type 1. J Neuroophthalmol. 2003;23:274–5.PubMedCrossRefGoogle Scholar
  638. 638.
    Karch SB, Urich H. Occipital encephalocele: a morphological study. J Neurol Sci. 1972;15:89–112.PubMedCrossRefGoogle Scholar
  639. 639.
    Karp LA, Zimmerman LE, Borit A, et al. Primary intraorbital meningiomas. Arch Ophthalmol. 1974;91:24–8.PubMedCrossRefGoogle Scholar
  640. 640.
    Karth P, Singh R, Kim J, Costakos D. Bilateral central retinal artery occlusion in an infant with hyperhomocysteinemia. J AAPOS. 2012;16:398–400.PubMedCrossRefGoogle Scholar
  641. 641.
    Karuppannasamy D, Vikrant K, Raghuram A, Sathish Kumaar TM. Cortical visual loss in posterior reversible encephalopathy syndrome in late postpartum eclampsia: case series. Indian J Ophthalmol. 2104;62:635–8.Google Scholar
  642. 642.
    Kashii S, Solomon SK, Moser FG, et al. Progressive visual field defects in patients with intracranial arteriovenous malformations. Am J Ophthalmol. 1990;109:556–62.PubMedCrossRefGoogle Scholar
  643. 643.
    Katz SE, Rootman J, Vangveeravon S, et al. Combined venous lymphatic malformations of the orbit (so-called lymphangiomas). Ophthalmology. 1998;105:176–84.PubMedCrossRefGoogle Scholar
  644. 644.
    Katz DM, Trobe JD, Muraszko KM, et al. Shunt failure without ventriculomegaly proclaimed by ophthalmic findings. J Neurosurg. 1994;81:721–5.PubMedCrossRefGoogle Scholar
  645. 645.
    Katz B, Wiley CA, Lee VW. Optic nerve hypoplasia and the syndrome of nevus sebaceous of Jadassohn. Ophthalmology. 1987;94:1570–6.PubMedCrossRefGoogle Scholar
  646. 646.
    Kaufman B. The Empty Sella Turcica: a manifestation of the intrasellar subarachnoid space. Radiology. 1968;90:931–41.PubMedCrossRefGoogle Scholar
  647. 647.
    Kaufman LM, Doroftei O. Optic glioma warranting treatment in children. Eye. 2006;20:1149–64.PubMedCrossRefGoogle Scholar
  648. 648.
    Kava M, Chitaya D, Blaser S, et al. Eye and brain abnormalities in congenital muscular dystrophies caused by Fukutin-related protein gene (FKRP mutations). Pediatr Neurol. 2013;49:374–8.PubMedCrossRefGoogle Scholar
  649. 649.
    Kaye LD, Rothner AD, Beauchamp GR, et al. Ocular findings associated with neurofibromatosis type 2. Ophthalmology. 1992;99:1424–9.PubMedCrossRefGoogle Scholar
  650. 650.
    Keane JR. Pretectal pseudobobbing. Five patients with “V”-pattern convergence nystagmus. Arch Neurol. 1985;42:592–4.PubMedCrossRefGoogle Scholar
  651. 651.
    Kebudi R, Cakir FB, Gorgun O. Interferon-α for unresectable progressive and symptomatic plexiform neurofibromas. J Pediatr Hematol Oncol. 2013;35:e115–7.PubMedCrossRefGoogle Scholar
  652. 652.
    Kedar S, Zhang XX, Lynn MJ, et al. Pediatric homonymous hemianopia. J AAPOS. 2006;10:249–52.PubMedCrossRefGoogle Scholar
  653. 653.
    Kehrer-Sawaatzki H, Cooper DN. Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes? J Med Genet. 2008;45:622–31.CrossRefGoogle Scholar
  654. 654.
    Kelly JP, Leary S, Khanna P, Weiss AH. Longitudinal measures of visual function, tumor volume, and predication of visual outcomes after treatment of optic pathway gliomas. Ophthalmology. 2012;119:1231–7.PubMedCrossRefGoogle Scholar
  655. 655.
    Kelly JP, Weiss AH. Comparison of pattern visual-pattern potentials to perimetry in the detection of visual loss in children with optic pathway gliomas. J AAPOS. 2006;10:298–306.PubMedCrossRefGoogle Scholar
  656. 656.
    Kelly JP, Ishak GE, Phillips JO, et al. Visual sensory and oculomotor function in children with polymicrogyria: relationship to MRI. J AAPOS 2016, in press.Google Scholar
  657. 657.
    Kendall B, Kingsley D, Lambert SR, et al. Joubert syndrome: a clinical-radiological study. Neuroradiology. 1990;31:502–6.PubMedCrossRefGoogle Scholar
  658. 658.
    Kerkaaan JP, Lycklama Á, Nijeholt GJ, Wiggenraad RGJ, et al. SMART syndrome: a late reversible complication after radiation therapy for brain tumors. J Neurol. 2011;258:1098–104.CrossRefGoogle Scholar
  659. 659.
    Kestle J, Townsend JJ, Brockmeyer DL, et al. Juvenile pilocytic astrocytoma of the brainstem in children. J Neurosurg. 2004;101:1–6.PubMedCrossRefGoogle Scholar
  660. 660.
    Khalaf SS, Tareef RB. Walker-Warburg syndrome. J AAPOS. 2006;10:486–8.PubMedCrossRefGoogle Scholar
  661. 661.
    Khan AO, Oystreck DT, Koenig M, et al. Ophthalmic features of ataxia telangiectasia–like disorder. J AAPOS. 2008;12(2):186–9.Google Scholar
  662. 662.
    Khatwa U, Ramgopal S, Mylavarpu A, et al. MRI findings and sleep apnea in children with Chiari I malformation. Pediatr Neurol. 2013;48:299–3070.PubMedCrossRefGoogle Scholar
  663. 663.
    Klein O, Pierre-Kahn A, Boddert N, et al. Dandy-Walker malformation: prenatal diagnosis and prognosis. Childs Nerv Syst. 2003;19:484–9.PubMedCrossRefGoogle Scholar
  664. 664.
    Kheir WJ, Sniegowski MC, El-Sawy T, et al. Ophthalmic complications of targeted cancer therapy and recently recognized ophthalmic complications of traditional chemotherapy. Surv Ophthalmol. 2014;59:493–502.PubMedCrossRefGoogle Scholar
  665. 665.
    Khong JJ, Hardy TG, McNab AA. Prevalence of oculo-auriculo-vertebral spectrum in dermolipoma. Ophthalmology. 2013;120:1529–32.PubMedCrossRefGoogle Scholar
  666. 666.
    Kikuchi T, Fujisawa I, Momoi T, et al. Hypopituitarism and stalk agenesis: a congenital syndrome worsened by breech delivery? Horm Res. 1991;35:104–8.CrossRefGoogle Scholar
  667. 667.
    Kikuta K, Takagi Y, Nozaki K, et al. Early experience with 3-T magnetic resonance tractography in the surgery of cerebral arteriovenous malformations in and around the visual pathways. Neurosurgery. 2006;58:331–7.PubMedCrossRefGoogle Scholar
  668. 668.
    Killer HE, Matzkin DC, Sternman D, et al. Intracavernous carotid aneurysm as a rare cause of isolated sixth nerve palsy in an eight-year-old child. Neuroophthalmology. 1993;13:147–50.CrossRefGoogle Scholar
  669. 669.
    Kim DG, Yang HJ, Park IA, et al. Gliomatosis cerebri: clinical features, treatment, and prognosis. Acta Neurochir. 1998;140:755–62.PubMedCrossRefGoogle Scholar
  670. 670.
    Kim JS, Park S-H, Lee K-W. Spasmus nutans and congenital ocular motor apraxia with cerebellar vermian hypoplasia. Arch Neurol. 2003;60:1621–4.PubMedCrossRefGoogle Scholar
  671. 671.
    Kim KY, Ju WK, Hegedus B, et al. Ultrastructural characterization of the optic pathway in a mouse model of neurofibromatosis-1 optic glioma. Neuroscience. 2012;170:178–88.CrossRefGoogle Scholar
  672. 672.
    Kim S, Na D, Byun H, et al. Focal cortical dysplasia: comparison of MRI and FDG-PET. J Comput Assist Tomogr. 2000;24:296–302.PubMedCrossRefGoogle Scholar
  673. 673.
    Kim DT, Rossignol E, Najem K, Ospina LH. Bilateral congenital corneal anesthesia in a patient with SCN9A mutation, confirmed primary erythromelalgia, and paroxysmal extreme pain disorder. J AAPOS. 2015;19:478–9.Google Scholar
  674. 674.
    Kirath H, Bozkurt B, Mocan C. Peripapillary staphyloma associated with orofacial hemangioma. Ophthalmic Genet. 2001;22:249–53.CrossRefGoogle Scholar
  675. 675.
    Kirik E, Yiş U, Dirik MA, et al. Vertebral artery dissection I a patient with Wildervanck syndrome. Pediatr Neurol. 2008;39:218–20.CrossRefGoogle Scholar
  676. 676.
    Klaus A, Birchmeier W. Wnt signalling and its impact on development and cancer. Nat Rev Cancer. 2008;10:468–77.Google Scholar
  677. 677.
    Kleihues P, Burger PC, Scheithauer BW, et al. The new WHO classification of brain tumours. Brain Pathol. 1993;3:255–68.PubMedCrossRefGoogle Scholar
  678. 678.
    Kleinschmidt-DeMasters BK, Lillehei KO, Stears JC. The pathologic, surgical, and MR spectrum of Rathke cleft cysts. Surg Neurol. 1995;44:19–27.PubMedCrossRefGoogle Scholar
  679. 679.
    Kluwe L, Friedrich R, Mautner VF. Loss of NF1 allele in Schwann cells but not in fibroblasts derived from an NF1–associated neurofibroma. Genes Chromosomes Cancer. 1999;24:283–5.PubMedCrossRefGoogle Scholar
  680. 680.
    Kluwe L, MacCollin M, Tatagiba M, et al. Phenotypic variability associated with 14 splice-site mutations in the NF2 gene. Am J Med Genet. 1998;77:228–33.PubMedCrossRefGoogle Scholar
  681. 681.
    Kniestedt C, Landau K, Brodsky MC, et al. Infantile orofacial hemangioma with ipsilateral peripapillary excavation in girls: a variant of the PHACE syndrome. Arch Ophthalmol. 2004;122:313–415.Google Scholar
  682. 682.
    Knudson Jr AG. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A. 1971;68:820–3.PubMedPubMedCentralCrossRefGoogle Scholar
  683. 683.
    Kobayahsi Y, Watanabe M, Okada Y, et al. Hydrocephalus, situs inversus, chronic sinusitis, and male infertility in DNA polymerase lambda-deficient mice: possible implication for the pathogenesis of immotile cilia syndrome. Mol Cell Biol. 2002;22:2767–76.Google Scholar
  684. 684.
    Kodsi SR, Bloom KE, Egbert JE, et al. Ocular and systemic manifestations of encephalocraniocutaneous lipomatosis. Am J Ophthalmol. 1994;118:77–82.PubMedCrossRefGoogle Scholar
  685. 685.
    Kohrman MH. Emerging treatments in the management of tuberous sclerosis. Pediatr Neurol. 2012;46:267–75.PubMedCrossRefGoogle Scholar
  686. 686.
    Kojima N, Tamaki N, Hosoda K, et al. Visual field defects in hydrocephalus. No To Shinkei. 1985;37:229–36.PubMedGoogle Scholar
  687. 687.
    Koktekir E, Koktekir BE, Karabagli H, et al. Resolution of papilledema after endoscopic third ventriculostomy versus cerebrospinal fluid shunting in hydrocephalus: a comparative study. J Neurosurg. 2014;120:1465–70.PubMedCrossRefGoogle Scholar
  688. 688.
    Kondo K, Kaelin WG. The von-Hippel-Lindau tumor suppressor gene. Exp Cell Res. 2001;264:117–25.PubMedCrossRefGoogle Scholar
  689. 689.
    Kono R, Hasebe S, Ohtsuri H, et al. Impaired vertical phoria adaptation in patients with cerebellar dysfunction. Invest Ophthalmol Vis Sci. 2002;43:673–8.PubMedGoogle Scholar
  690. 690.
    Korf BR. Plexiform neurofibromas. Am J Med Genet. 1999;89:31–7.PubMedCrossRefGoogle Scholar
  691. 691.
    Korf BR, Schenider G, Poussaint TY. Structural anomalies revealed by neuroimaging studies in brains of patients with neurofibromatosis type 1 and large deletions. Genet Med. 1999;1:136–40.PubMedCrossRefGoogle Scholar
  692. 692.
    Korones DN, Fisher PG, Kretschmar C, et al. Treatment of children with diffuse intrinsic brain stem glioma with radiotherapy, vincristine, and oral VP-16: a Children’s Oncology Group phase II study. Pediatr Blood Cancer. 2008;50(2):227–30.PubMedCrossRefGoogle Scholar
  693. 693.
    Korshunov A, Neben K, Wrobel G, et al. Gene expression patterns in ependymomas correlate with tumor location, grade, and patient. Am J Pathol. 2003;163:1721–7.PubMedPubMedCentralCrossRefGoogle Scholar
  694. 694.
    Kosmorsky GS. Hydrocephalus: an overview. In: Proceedings of the North American Neuro-Ophthalmology Society, Orlando, 27 March–1 April 2004. p. 295–302.Google Scholar
  695. 695.
    Kozlowski P, Roberts P, Dabora S, et al. Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. Hum Genet. 2007;121:389–400.PubMedCrossRefGoogle Scholar
  696. 696.
    Krab LC, Aarsen FK, de Goede-Bolder A, et al. Impact of neurofibromatosis type 1 on school performance. J Child Neurol. 2008;23:1002–10.PubMedGoogle Scholar
  697. 697.
    Krab LC, de Goede-Bolder A, Aarsen FK, et al. Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: a randomized clinical control trial. JAMA. 2008;300:287–94.PubMedPubMedCentralCrossRefGoogle Scholar
  698. 698.
    Kresk P, Maton B, Korman B, et al. Different features of histopathological subtypes of pediatric focal cortical dysplasia. Ann Neurol. 2008;63:758–69.CrossRefGoogle Scholar
  699. 699.
    Kroll AS, Reiken PD, Robb RM, et al. Vitreous hemorrhage complicating retinal astrocytic hamartoma. Surv Ophthalmol. 1981;26:31–8.PubMedCrossRefGoogle Scholar
  700. 700.
    Krueger DA, Care MM, Holland K. Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med. 2010;363:1801–11.PubMedCrossRefGoogle Scholar
  701. 701.
    Kuban KC, Teele RL, Wallman J. Septo-optic-dysplasia-schizencephaly. Radiographic and clinical features. Pediatr Radiol. 1989;19:145–50.PubMedCrossRefGoogle Scholar
  702. 702.
    Kuchukidze G, Rauchenzauer M, Gotwald T, et al. Hypoplasia of deep cerebellar nuclei in Joubert syndrome. Pediatr Neurol. 2009;40:474–6.CrossRefGoogle Scholar
  703. 703.
    Kucuk O, Kwaan HC, Gunnar W, Vazquez RM. Thromboembolic complications associated with L-asparaginase therapy. Etiologic role of low antithrombin III and plasminogen levels and therapeutic correction by fresh frozen plasma. Cancer. 1985;55:702–6.PubMedCrossRefGoogle Scholar
  704. 704.
    Kulkantrakorn K, Awwad EE, Levy B, et al. MRI in Lhermitte-Duclos disease. Neurology. 1997;48:725–31.PubMedCrossRefGoogle Scholar
  705. 705.
    Kumagai M, Sakai N, Yamada H, et al. Postnatal development and enlargement of primary middle cranial fossa arachnoid cyst recognized on repeat CT scans. Childs Nerv Syst. 1986;2:211–4.PubMedCrossRefGoogle Scholar
  706. 706.
    Kumar A, Sahu A, Shetty S, Vijayalakshmi P. Vildervanck syndrome associated with cleft palate and short stature. Indian J Ophthalmol. 2010;58:323.PubMedPubMedCentralCrossRefGoogle Scholar
  707. 707.
    Kumar R, Jain MK, Chhabra DK. Dandy–Walker syndrome: different modalities of treatment and outcome in 42 cases. Childs Nerv Syst. 2001;17:348–52.PubMedCrossRefGoogle Scholar
  708. 708.
    Kumar RA, Pilz DT, Babatz TD, et al. TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Hum Mol Genet. 2010;19:2817–27.PubMedPubMedCentralCrossRefGoogle Scholar
  709. 709.
    Kumar V, Behari S, Singh RK, et al. Pediatric colloid cysts of the third ventricle: management considerations. Acta Neurochir. 2010;152:451–61.PubMedCrossRefGoogle Scholar
  710. 710.
    Kumar VR, Madhugiri VS, Verma SK, et al. Tuberculoma of the cavernous sinus and Meckel’s cave in a child. Pediatr Neurosurg. 2013;49:369–73.PubMedGoogle Scholar
  711. 711.
    Kun LE, Kovnar EH, Sanford RA. Ependymomas in children. Pediatr Neurosci. 1988;14:57–63.PubMedCrossRefGoogle Scholar
  712. 712.
    Kupersmith MJ, Vargas M, Hoyt WF, et al. Optic tract atrophy with cerebral arteriovenous malformations. Direct and transsynaptic degeneration. Neurology. 1994;44:80–3.PubMedCrossRefGoogle Scholar
  713. 713.
    Kuroiwa T, Okabe B, Hasuo K, et al. MR imaging of pituitary dwarfism. Am J Neuroradiol. 1991;12:155.Google Scholar
  714. 714.
    Kurschel S, Maier R, Gellner V, et al. Chiari I malformation and intra-cranial hypertension: a case-based review. Childs Nerv Syst. 2007;23:901–5.PubMedCrossRefGoogle Scholar
  715. 715.
    Kuzniecky R. Familial diffuse cortical dysplasia. Arch Neurol. 1994;51:307–10.PubMedCrossRefGoogle Scholar
  716. 716.
    Kuzniecky RI, Jackson GD. Magnetic resonance in epilepsy. 2nd ed. Burlington: Elsevier; 2005.Google Scholar
  717. 717.
    Kwiatkowski DJ. Tuberous sclerosis: from tubers to mTOR. Ann Hum Genet. 2003;67:87–96.PubMedCrossRefGoogle Scholar
  718. 718.
    Kwiatkowski DJ, Manning BD. Molecular basis of giant cells in tuberous sclerosis complex. N Engl J Med. 2014;371:778–9.PubMedCrossRefGoogle Scholar
  719. 719.
    Kwon S, Koo J, Lee S. Clinical spectrum of reversible posterior leukoencephalopathy syndrome. Pediatr Neurol. 2001;24:361–4.PubMedCrossRefGoogle Scholar
  720. 720.
    Labelle-Dumais C, Dilworth DJ, Harrington EP, et al. COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. PLoS Genet. 2011;7(5), e1002062.PubMedPubMedCentralCrossRefGoogle Scholar
  721. 721.
    Lach B, Scheithauer BW, Gregor A, et al. Colloid cyst of the third ventricle: a comparative immunohistochemical study of neuraxis cysts and choroid plexus epithelium. J Neurosurg. 1993;78:101–11.PubMedCrossRefGoogle Scholar
  722. 722.
    Lallier TE. Cell lineage and cell migration in the neural crest. Ann N Y Acad Sci. 1991;615:158–71.PubMedCrossRefGoogle Scholar
  723. 723.
    Lam C, Ou JC, Billingsley EM. “PTCH”-ing it together. A basal cell nevus syndrome review. Dermatol Surg. 2013;39:1557–72.PubMedCrossRefGoogle Scholar
  724. 724.
    Lamas E, Lobato RD, Esparza J, et al. Dural posterior fossa AVM producing raised sagittal sinus pressure. J Neurosurg. 1977;46:804–10.PubMedCrossRefGoogle Scholar
  725. 725.
    Lambert HM, Sipperley JO, Shore JW, et al. Linear sebaceous nevus syndrome. Ophthalmology. 1987;94:278–83.PubMedCrossRefGoogle Scholar
  726. 726.
    LaMonica BE, Lui JH, Wang X, Kriegstein AR. OSVZ progenitors in the human cortex: an updated perspective on neurodevelopmental disease. Curr Opin Neurobiol. 2012;22:747–53.PubMedPubMedCentralCrossRefGoogle Scholar
  727. 727.
    Landau K, Dossetor FM, Hoyt WF, et al. Retinal hamartoma in neurofibromatosis 2. Arch Ophthalmol. 1990;108:328–9.PubMedCrossRefGoogle Scholar
  728. 728.
    Landau K, Gloor BP. Therapy-resistant papilledema in achondroplasia. J Neuroophthalmol. 1994;14:24–8.PubMedCrossRefGoogle Scholar
  729. 729.
    Landau K, Yasargil GM. Ocular fundus in neurofibromatosis type 2. Br J Ophthalmol. 1993;77:646–9.PubMedPubMedCentralCrossRefGoogle Scholar
  730. 730.
    Lannering B, Marky I, Lundberg A, et al. Long-term sequelae after pediatric brain tumors: their effect on disability and quality of life. Med Pediatr Oncol. 1990;18:304–10.PubMedCrossRefGoogle Scholar
  731. 731.
    Lanphear J, Sarnaik S. Presenting symptoms of pediatric brain tumors diagnosed in the emergency department. Pediatr Emerg Care. 2014;30:77–80.PubMedCrossRefGoogle Scholar
  732. 732.
    Lanthier S, Carmant L, David M, et al. Stroke in children: the coexistence of multiple risk factors predicts poor outcome. Neurology. 2000;54:371–8.PubMedCrossRefGoogle Scholar
  733. 733.
    Larson DA, Wara WM, Edwards MS. Management of childhood cerebellar astrocytoma. Int J Radiat Oncol Biol Phys. 1989;18:971–3.CrossRefGoogle Scholar
  734. 734.
    Lee AG, Goldberg MF, Gillard JH, et al. Intracranial assessment of incontinentia pigmenti using magnetic resonance imaging, angiography, and spectroscopic imaging. Arch Pediatr Adolesc Med. 1995;149:573–80.PubMedCrossRefGoogle Scholar
  735. 735.
    Lee AG, Quick SJ. A childhood cavernous conundrum. Surv Ophthalmol. 2004;49:231–6.PubMedCrossRefGoogle Scholar
  736. 736.
    Lee AG, Sforza PD, Fard AK, et al. Pituitary adenoma in children. J Neuroophthalmol. 1998;18:102–5.PubMedGoogle Scholar
  737. 737.
    Lee H, Kim D, Wu EL, et al. Identification and characterization of putative tumor suppressor NGB, a GTP-binding protein that interacts with the neurofibromatosis 2 protein. Mol Cell Biol. 2007;27:2103–19.PubMedPubMedCentralCrossRefGoogle Scholar
  738. 738.
    Lee HB, Garrity JA, Cameron JD, et al. Primary optic nerve sheath meningioma in children. Surv Ophthalmol. 2008;53:543–58.CrossRefGoogle Scholar
  739. 739.
    Lee JH, Oh CW, Lee SH, Leker RR. Aplasia of the internal carotid artery. Acta Neurochir (Wien). 2003;145:117–25.CrossRefGoogle Scholar
  740. 740.
    Lee M-J, Stephenson DA. Recent developments in neurofibromatosis type 1. Curr Opin Neurol. 2007;20:135–41.PubMedCrossRefGoogle Scholar
  741. 741.
    Lee RK, Lui PP, Tong CS, Chu WC. Encephalocraniocutaneous lipomatosis: a rare case with development of diffuse leptomeningeal lipomatosis during childhood. Am J Med Genet. 2007;143A:2963–72.CrossRefGoogle Scholar
  742. 742.
    Lee RK, Lui PP, Tong CS, Chu WC. Encephalocranial cutaneous lipomatosis: a rare case with development of diffuse leptomeningeal lipomatosis during childhood. Pediatr Radiol. 2012;42:129–33.PubMedCrossRefGoogle Scholar
  743. 743.
    Legido A, Packer RJ, Sutton LN, et al. Suprasellar germinomas in childhood. Cancer. 1989;63:340–4.PubMedCrossRefGoogle Scholar
  744. 744.
    Leiba H, Landau K. Cavernous sinus lesions in chidren—a management challenge. In: Proceedings of the North American Neuro-Ophthalmology Society, Orlando, 8–13 March 2008.Google Scholar
  745. 745.
    Leigh RJ, Mapstone T, Weymann C. Eye movements in children with the Dandy–Walker syndrome. Neuroophthalmology. 1992;12:285–8.CrossRefGoogle Scholar
  746. 746.
    Leigh RJ, Zee DS. Neurology of eye movements. 4th ed. New York: Oxford University Press; 2006. p. 609.Google Scholar
  747. 747.
    Lennerstrand G, Gallo JE. Neuro-ophthalmological evaluation of patients with myelomeningocele and Arnold-Chiari malformations. Dev Med Child Neurol. 1990;32:415–22.PubMedCrossRefGoogle Scholar
  748. 748.
    Lennerstrand G, Gallo JE, Samuelsson L. Neuro-ophthalmological findings in relation to CNS lesions in patients with myelomeningocele. Dev Med Child Neurol. 1990;32:423–31.PubMedCrossRefGoogle Scholar
  749. 749.
    Leonard JR, Perry A, Rubin JB, et al. The role of surgical biopsy in the diagnosis of glioma in individuals with neurofibromatosis-1. Neurology. 2006;67:1509–12.PubMedCrossRefGoogle Scholar
  750. 750.
    Lerone M, Pessagno A, Taccone A, et al. Oculocerebral syndrome with hypopigmentation (Cross syndrome): report of a new case. Clin Genet. 1992;41:87–9.PubMedCrossRefGoogle Scholar
  751. 751.
    Leskelä HV, Kuorilehto T, Risteli J, et al. Congenital pseudarthrosis of neurofibromatosis type 1: impaired osteoblast differentiation and function and altered NF1 gene expression. Bone. 2009;44:243–50.PubMedCrossRefGoogle Scholar
  752. 752.
    Lesser RL, Geehr RB, Higgins DD, et al. Ocular motor paralysis and arachnoid cyst. Arch Ophthalmol. 1980;98:1993–5.PubMedCrossRefGoogle Scholar
  753. 753.
    Leventer RJ, Guerrini R, Dobyns WB. Malformations of cortical development and epilepsy. Dialogues Clin Neurosci. 2008;10:47–62.PubMedPubMedCentralGoogle Scholar
  754. 754.
    Levey EB, Stashinnko E, Clegg NJ, et al. Assessment of the deep gray nuclei in holoprosencephaly. Am J Neuroradiol. 2000;154:183–90.Google Scholar
  755. 755.
    Levine TM, Materek A, Abel J, et al. Cognitive profile of neurofibromatosis type 1. Semin Pediatr Neurol. 2006;13:8–20.PubMedCrossRefGoogle Scholar
  756. 756.
    Lewis RA, Gerson LP, Axelson KA, et al. von Recklinghausen neurofibromatosis. II: incidence of optic gliomata. Ophthalmology. 1984;91:929.PubMedCrossRefGoogle Scholar
  757. 757.
    Lewis AR, Kline LB, Sharpe JA. Acquired esotropia due to Arnold-Chiari malformation. J Neuroophthalmol. 1996;16:49–54.PubMedCrossRefGoogle Scholar
  758. 758.
    Lewis RA, Riccardi VM. von Recklinghausen neurofibromatosis: incidence of iris hamartomata. Ophthalmology. 1981;88:348.PubMedCrossRefGoogle Scholar
  759. 759.
    Li S, Jin Z, Koirala S, et al. GPR56 regulates pial basement membrane integrity and cortical lamination. J Neurosci. 2008;28:5817–26.PubMedPubMedCentralCrossRefGoogle Scholar
  760. 760.
    Li W, Cui Y, Kushner SA, et al. The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1. Curr Biol. 2005;15:1961–7.PubMedCrossRefGoogle Scholar
  761. 761.
    Lian G, Lu J, Hu J, et al. Filamin A regulates neural progenitor proliferation and cortical size through Wee1-dependent Cdk1 phosphorylation. J Neurosci. 2012;32:7672–84.PubMedPubMedCentralCrossRefGoogle Scholar
  762. 762.
    Liang N, Zhang C, Dill P, et al. Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex. J Exp Med. 2014;211:2249–63.PubMedPubMedCentralCrossRefGoogle Scholar
  763. 763.
    Lim H-S, Ardern-Holmes S, McCowage G, de Souza P. Systemic therapy in neurofibromatosis type 2. Cancer Treat Rev. 2014;40:857–61.PubMedCrossRefGoogle Scholar
  764. 764.
    Lima BR, Schoenfield L, Rychwalski PJ. Germinoma presenting as a fourth cranial nerve palsy in a patient with adenomatous polyposis (APC) gene mutation. J AAPOS. 2011;15:71–3.PubMedCrossRefGoogle Scholar
  765. 765.
    Lin A, Rodriguez FJ, Karajannis MA, et al. BRAF alterations in primary glial and glioneuronal neoplasms of the central nervous system with identification of the 2 novel KIAA1549:BRAF fusion variants. J Neuropathol. 2012;71:66–72.Google Scholar
  766. 766.
    Lin AW, Krings T. Characteristic imaging findings in encephalocraniocutaneous lipomatosis. Neurology. 2015;84:1384–5.PubMedCrossRefGoogle Scholar
  767. 767.
    Lindhurst MJ, Sap JC, Teer JK, et al. A mosaic activating mutation I AKT1 associated with the Proteus syndrome. N Engl J Med. 2011;365:611–9.PubMedPubMedCentralCrossRefGoogle Scholar
  768. 768.
    Listernick R, Charrow J, Greenwald M, et al. Natural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study. J Pediatr. 1994;125:63–6.PubMedCrossRefGoogle Scholar
  769. 769.
    Listernick R, Charrow J, Greenwald MJ, et al. Optic gliomas in children with neurofibromatosis type I. J Pediatr. 1989;114:788.PubMedCrossRefGoogle Scholar
  770. 770.
    Listernick R, Charrow J, Gutmann DH. Intracranial gliomas in neurofibromatosis type 1. Am J Med Genet. 1999;89:38–44.PubMedCrossRefGoogle Scholar
  771. 771.
    Listernick R, Charrow J, Tomita T, et al. Carboplatin therapy for optic pathway tumors in children with neurofibromatosis type-1. J Neurooncol. 1999;45:185–90.PubMedCrossRefGoogle Scholar
  772. 772.
    Listernick R, Ferner RE, Liu GT, Gutmann DH. Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations. Ann Neurol. 2007;61:189–98.PubMedCrossRefGoogle Scholar
  773. 773.
    Littman P, Jarrett P, Bilaniuk LT, et al. Pediatric brain stem gliomas. Cancer. 1980;45:2787–92.PubMedCrossRefGoogle Scholar
  774. 774.
    Liu GT. Visual loss in childhood. Surv Ophthalmol. 2001;46:35–42.PubMedCrossRefGoogle Scholar
  775. 775.
    Liu GT, Brodsky MC, Phillips PC, et al. Optic radiation involvement in optic pathway gliomas in neurofibromatosis. Am J Ophthalmol. 2004;137:407–14.PubMedCrossRefGoogle Scholar
  776. 776.
    Liu GT, Galletta SL. Homonymous hemifield loss in childhood. Neurology. 1997;49:1748–9.PubMedCrossRefGoogle Scholar
  777. 777.
    Liu GT, Katowitz JA, Rorke-Adams LB, Fisher MJ. Optic pathway gliomas. Neoplasms, not hamartomas. JAMA Ophthalmol. 2013;131:646–50.PubMedCrossRefGoogle Scholar
  778. 778.
    Liu GT, Phillips PC, Molloy P, et al. Visual impairment associated with mutism after posterior fossa surgery in children. Neurosurgery. 1998;42:253–6.PubMedCrossRefGoogle Scholar
  779. 779.
    Liu JS. Molecular genetics of neuronal migration disorders. Curr Neurol Neurosci Rep. 2011;11:171–8.PubMedCrossRefGoogle Scholar
  780. 780.
    Loggers HE, Oosterwijk JC, Overweg-Plandsoen WC, et al. Encephalocraniocutaneous lipomatosis and oculocerebrocutaneous syndrome. Ophthalmic Paediatr Genet. 1992;13:171–7.PubMedCrossRefGoogle Scholar
  781. 781.
    Lopponen H, Sorri M, Serlo W, et al. ENG findings of shunt-treated hydrocephalus in children. Int J Pediatr Otorhinolaryngol. 1992;23:35–44.PubMedCrossRefGoogle Scholar
  782. 782.
    Losurdo A, Testani E, Scarano E, et al. What causes sleep-disordered breathing in Chiari I malformation? Comment on: MRI findings and sleep apnea in children with Chiari I malformation. Pediatr Neurol. 2013;49:e11–3.PubMedCrossRefGoogle Scholar
  783. 783.
    Lott IT, Richardson Jr EP. Neuropathological findings and the biology of neurofibromatosis. Adv Neurol. 1981;29:23–32.PubMedGoogle Scholar
  784. 784.
    Lou H, Zhang L, Xaio W, Zhang J, Zhang M. Nearly completely reversible brain abnormalities in a patient with incontinentia pigmenti. AJNR Am J Neuroradiol. 2008;29:431–3.PubMedCrossRefGoogle Scholar
  785. 785.
    Louis DN, Ohgaki H, Wiestler OD, et al. The 2007 WHO classification of tumours of the central nervous system. Acta Neuropathol. 2007;114:97–109.PubMedPubMedCentralCrossRefGoogle Scholar
  786. 786.
    Lowenstein DH, Koch TK, Edwards MS. Cerebral ptosis with contralateral arteriovenous malformation: a report of two cases. Ann Neurol. 1987;21:404–7.PubMedCrossRefGoogle Scholar
  787. 787.
    Luat AF, Makki M, Chugani HT. Neuroimaging in tuberous sclerosis complex. Curr Opin Neurol. 2007;20:142–50.PubMedCrossRefGoogle Scholar
  788. 788.
    Lubinsky MS. Non-random associations and vascular fields in neurofibromatosis 1: a pathogenic hypothesis. Am J Med Genet A. 2006;140:2080–4.PubMedCrossRefGoogle Scholar
  789. 789.
    Lubs M-LE, Bauer M, Formas ME, et al. Iris hamartomas in the diagnosis of neurofibromatosis-1. Int Pediatr. 1990;5:261.Google Scholar
  790. 790.
    Lubs M-LE, Bauer M, Formas ME, et al. Lisch nodules in neurofibromatosis type I. N Engl J Med. 1991;324:1264.PubMedCrossRefGoogle Scholar
  791. 791.
    Luciano M. The treatment of neuro-hydrodynamic disorders: indications and methods. In: Proceedings of the North American Neuro-Ophthalmology Society, Orlando, 27 March–1 April 2004.Google Scholar
  792. 792.
    Ludwig B, Brand M, Brockerhoff P. Postpartum CT examination of the heads of full term infants. Neuroradiology. 1980;20:145–54.PubMedCrossRefGoogle Scholar
  793. 793.
    Lueder GT, Doll JT. Pseudopapilledema in neurofibromatosis type 2. Am J Ophthalmol. 2000;129:405–7.PubMedCrossRefGoogle Scholar
  794. 794.
    Luessenhop AJ. Natural history of cerebral arteriovenous malformations. In: Wilson CB, Stein BM, editors. Intracranial arteriovenous malformations. Baltimore: Williams & Wilkins; 1984. p. 13–23.Google Scholar
  795. 795.
    Lunsford LD, Kondziolka D, Flickinger JC, et al. Stereotactic radiosurgery for arteriovenous malformations of the brain. J Neurosurg. 1991;75:512.PubMedCrossRefGoogle Scholar
  796. 796.
    Lupski JR. Genome mosaicism—one human, multiple genomes. Science. 2013;341:358–9.PubMedCrossRefGoogle Scholar
  797. 797.
    Luscan A, Shackleford GG, Masliah-Planchon J, et al. The activation of the WNT signaling pathway is a hallmark in neurofibromatosis type 1 tumorigenesis. Clin Cancer Res. 2014;20:358–71.PubMedCrossRefGoogle Scholar
  798. 798.
    Lyons MK, Kelly PJ. Posterior fossa ependymomas: report of 30 cases and review of the literature. Neurosurgery. 1991;28:659–65.PubMedCrossRefGoogle Scholar
  799. 799.
    Mack SC, Witt H, Piro RM, et al. Epigenomic alterations define lethal CIMP-positive ependymomas of infancy. Nature. 2014;506:445–50.PubMedPubMedCentralCrossRefGoogle Scholar
  800. 800.
    Madhusudan S, Deplanque G, Braybrooke JP, et al. Antiangiogenic therapy for von Hippel-Lindau disease. JAMA. 2004;291:943–4.PubMedCrossRefGoogle Scholar
  801. 801.
    Maertens O, De Schepper S, Vandesompele J, et al. Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. Am J Med Genet. 2007;81:243–51.Google Scholar
  802. 802.
    Maghnie M, Larizza D, Triulzi F, et al. Hypopituitarism and stalk agenesis: a congenital syndrome worsened by breech delivery? Horm Res. 1991;35:104–8.PubMedCrossRefGoogle Scholar
  803. 803.
    Maher ER, Webster AR, Richards FM, et al. Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. J Med Genet. 1996;33:328–32.PubMedPubMedCentralCrossRefGoogle Scholar
  804. 804.
    Maher ER, Yates JR, Harries R, et al. Clinical features and natural history of von Hippel-Lindau disease. Q J Med. 1990;66:233.Google Scholar
  805. 805.
    Mainberger F, Jung NH, Zenker M, et al. Lovastatin improves impaired synaptic plasticity and phasic alertness in patients with neurofibromatosis type 1. BMC Neurol. 2013;13:131.PubMedPubMedCentralCrossRefGoogle Scholar
  806. 806.
    Maitland CG, Abiko S, Hoyt WF, et al. Chiasmal apoplexy: report of four cases. J Neurosurg. 1982;56:118–22.PubMedCrossRefGoogle Scholar
  807. 807.
    Malik S, Cohen BH, Robinson J, et al. Progressive vision loss: a rare manifestation of familial cavernous angiomas. Arch Neurol. 1992;49:170–3.PubMedCrossRefGoogle Scholar
  808. 808.
    Malzone WF, Gonyea EF. Exophthalmos with intracerebral arteriovenous malformations. Neurology. 1973;23:534–8.PubMedCrossRefGoogle Scholar
  809. 809.
    Manara R, Brotto D, Ghiselli S, et al. Cranial nerve abnormalities in oculo-auriculo-vertical spectrum. AJNR Am J Neuroradiol. 2015; in press.Google Scholar
  810. 810.
    Manor RS, Bar-Ziv J, Tadmor R, et al. Pineal germinoma with unilateral blindness. Seeding of germinoma cells in optic nerve sheath. J Clin Neuroophthalmol. 1990;10:239–43.PubMedCrossRefGoogle Scholar
  811. 811.
    Mansour AM, Wang F, Henkind P, et al. Ocular findings in the facioauriculovertebral sequence (Goldenhar-Gorlin syndrome). Am J Ophthalmol. 1985;100:555–9.PubMedCrossRefGoogle Scholar
  812. 812.
    Manudhane A, Arora R, Kapoor S, et al. Congenital accessory palpebral aperture-an addition to the spectrum of Delleman syndrome. Ophthalmic Genet. 2013;34:109–11.PubMedCrossRefGoogle Scholar
  813. 813.
    Marcus KJ, Goumnervova L, Billett AL, et al. Stereotactic radiotherapy for localized low-grade gliomas in children: final results of a prospective trial. Int J Radiat Oncol Biol Phys. 2005;61:374–9.PubMedCrossRefGoogle Scholar
  814. 814.
    Marcus M, Vitale S, Calvert PC, et al. Visual parameters in patients with pituitary adenoma before and after transsphenoidal surgery. Aust N Z J Ophthalmol. 1991;19:111–8.PubMedCrossRefGoogle Scholar
  815. 815.
    Margolis S, Aleksic S, Charles N, et al. Retinal and optic nerve findings in the Goldenhar-Gorlin syndrome. Ophthalmology. 1984;91:1327.PubMedCrossRefGoogle Scholar
  816. 816.
    Maria BL. Neurobiology of central nervous system tumors in children. J Child Neurol. 2008;23:1011–102.Google Scholar
  817. 817.
    Maria BL, Bozorgmanesh A, Kimmel KN, et al. Quantitative assessment of brain-stem development in Joubert syndrome and Dandy–Walker syndrome. J Child Neurol. 2001;16:751–8.PubMedCrossRefGoogle Scholar
  818. 818.
    Maria BL, Rehder KK, Eskin TA, et al. Brain stem glioma. I: pathology, clinical features and therapy. J Child Neurol. 1993;8:112–28.PubMedCrossRefGoogle Scholar
  819. 819.
    Martinelli I, Sacchi E, Landi G, et al. High risk of cerebral-vein thrombosis in carriers of a prothrombin-gene mutation in users of oral contraceptives. N Engl J Med. 1998;338:1793–7.PubMedCrossRefGoogle Scholar
  820. 820.
    Martinez-Lage JF, Poza M, Costa TR. Bilateral temporal arachnoid cysts in neurofibromatosis. J Child Neurol. 1993;8:383–5.PubMedCrossRefGoogle Scholar
  821. 821.
    Martyn LJ, Knox DL. Glial hamartoma of the retina in generalized neurofibromatosis, von Recklinghausen’s disease. Br J Ophthalmol. 1972;56:487–91.PubMedPubMedCentralCrossRefGoogle Scholar
  822. 822.
    Massimino M, Sprafixo F, Cefalo G, et al. High response rate to cisplatin-etoposide regimen in childhood low-grade gliomas: follow-up of 54 patients. Ophthalmology. 2004;111:568–77.CrossRefGoogle Scholar
  823. 823.
    Matsubara O, Tanaka M, Ida T, et al. Hemimegalencephaly with hemihypertrophy (Klippel-Trenaunay-Weber syndrome). Virchows Arch A Pathol Anat Histopathol. 1983;400:155–62.Google Scholar
  824. 824.
    Matzkin DC, Slamovits TL, Jenis I, et al. Disc swelling: a tall tale? Surv Ophthalmol. 1992;37:130–6.PubMedCrossRefGoogle Scholar
  825. 825.
    Mautner VF, Tatagiba M, Guthoff R, et al. Neurofibromatosis-2 in the pediatric age group. Neurosurgery. 1993;33:92–6.PubMedCrossRefGoogle Scholar
  826. 826.
    Mautner VF, Tatagiba M, Lindenau M, et al. Spinal tumours in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and variety. AJR Am J Roentgenol. 1996;165:951–5.CrossRefGoogle Scholar
  827. 827.
    Mavrou A, Tsangaris GT, Roma E, Kolialexi A. The ATM gene and ataxia telangiectasia. Anticancer Res. 2008;28:401–6.PubMedGoogle Scholar
  828. 828.
    McAvoy CE, Best R, Sharkey JA, et al. Symptomatic arachnoid cyst presenting as a sixth nerve palsy. Eye. 2001;15:548–50.PubMedCrossRefGoogle Scholar
  829. 829.
    McFadzean RM. The empty sella syndrome. A review of 14 cases. Trans Ophthalmol Soc U K. 1983;103:537–42.PubMedGoogle Scholar
  830. 830.
    McKillop E, Dutton GN. Impairment of vision in children due to damage to the brain: a practical approach. Br Ir Orthopt J. 2008;5:8–14.Google Scholar
  831. 831.
    McLaughlin ME, Pepin SM, MacCollin M, et al. Ocular pathologic features of neurofibromatosis type 2. Arch Ophthalmol. 2007;125:389–94.PubMedCrossRefGoogle Scholar
  832. 832.
    McLone DG, Knepper PA. The cause of Chiari II malformation: a unified theory. Pediatr Neurosurg. 1989;15:1–12.CrossRefGoogle Scholar
  833. 833.
    Mealey Jr J, Dzenitis AJ, Hockey AA. The prognosis of encephaloceles. J Neurosurg. 1970;32:209–18.PubMedCrossRefGoogle Scholar
  834. 834.
    Mejico LJ, Miller NR, Dong LM. Clinical features associated with lesions other than pituitary adenoma in patients with an optic chiasmal syndrome. Am J Ophthalmol. 2004;137:908–13.PubMedCrossRefGoogle Scholar
  835. 835.
    Melean G, Sestini R, Ammannati F, et al. Genetic insights into familial tumors of the nervous system. Am J Med Genet. 2004;129C:74–84.PubMedCrossRefGoogle Scholar
  836. 836.
    Merchant TE. Proton beam therapy in pediatric oncology. Cancer J. 2009;15:298–305.PubMedCrossRefGoogle Scholar
  837. 837.
    Merchant TE, Farr JB. Proton beam therapy: a fad or a new standard of care. Curr Opin Pediatr. 2014;26:3–8.PubMedCrossRefGoogle Scholar
  838. 838.
    Merchant TE, Mulhern RK, Krasin MJ, et al. Preliminary results from a phase II trial of conformal radiation therapy and evaluation of radiation-related CNS effects for pediatric patients with localized ependymoma. J Clin Oncol. 2004;22:3156–62.PubMedCrossRefGoogle Scholar
  839. 839.
    Mercuri S, Russo A, Palma L. Hemispheric supratentorial astrocytomas in children. Long-term results in 29 cases. J Neurosurg. 1981;55:170–3.PubMedCrossRefGoogle Scholar
  840. 840.
    Merello E, Swanson E, De Marco P, et al. No major role for the EMX2 gene in schizencephaly. Am J Med Genet. 2008;146A:1142–50.PubMedCrossRefGoogle Scholar
  841. 841.
    Messiaen L, Yao S, Brems H, et al. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA. 2009;302:2111–8.PubMedCrossRefGoogle Scholar
  842. 842.
    Metry DW, Dowd CF, Barkovich AJ, et al. The many faces of PHACE syndrome. J Pediatr. 2001;139:117–23.PubMedCrossRefGoogle Scholar
  843. 843.
    Meyer DR, Nerad JA, Newman NJ, et al. Bilateral enophthalmos associated with hydrocephalus and ventriculoperitoneal shunting. Arch Ophthalmol. 1996;114:1206–9.PubMedCrossRefGoogle Scholar
  844. 844.
    Meyerle CB, Dahr SS, Wetjen NM, et al. Clinical course of retrobulbar hemangioblastomas in von Hippel-Lindau disease. Ophthalmology. 2008;115:1382–9.PubMedCrossRefGoogle Scholar
  845. 845.
    Meyers SP, Kemp SS, Tarr RW. MR imaging features of medulloblastomas. AJR Am J Roentgenol. 1992;158:859–65.PubMedCrossRefGoogle Scholar
  846. 846.
    Midha R, Jay V, Smyth HS. Transsphenoidal management of Rathke’s cleft cysts: a clinicopathological review of 10 cases. Surg Neurol. 1991;35:446–54.PubMedCrossRefGoogle Scholar
  847. 847.
    Milbouw G, Born JD, Martin D, et al. Clinical and radiological aspects of dysplastic gangliocytoma (Lhermitte-Duclos disease): report of two cases and review of the literature. Neurosurgery. 1988;22:124–8.PubMedGoogle Scholar
  848. 848.
    Milder DG, Reinecke RD. Phoria adaptation to prisms. A cerebellar dependent process. Arch Neurol. 1983;40:339–42.PubMedCrossRefGoogle Scholar
  849. 849.
    Milewicz DM, Ostergaard JR, Ala-Kokko LM, et al. De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. Am J Med Genet A. 2010;152A:2437–43.PubMedPubMedCentralCrossRefGoogle Scholar
  850. 850.
    Miller JH. Radiological evaluation of sellar lesions. Crit Rev Diagn Imaging. 1981;16:311–47.PubMedGoogle Scholar
  851. 851.
    Miller NR. Late improvement in upward gaze in a patient with hydrocephalus related Parinaud dorsal midbrain syndrome. Br J Ophthalmol. 2006;90:123.PubMedCrossRefGoogle Scholar
  852. 852.
    Miller NR. Solitary oculomotor nerve palsy in childhood. Am J Ophthalmol. 1977;83:106–11.PubMedCrossRefGoogle Schola