Abstract
Advances in genetics and neuroimaging have revolutionized the diagnosis of intracranial disease in children. An integrated approach to these diseases has also emerged from the proliferation of multidisciplinary clinics and programs combining expertise in pediatric neurology, neurosurgery, neuropathology, neuroradiology, neuro-oncology, and neuro-ophthalmology. The role of genetic defects is increasingly recognized in many intracranial disorders, and basic research elucidates their pathogenesis at the molecular level. Refinement in neurosurgical management continues to advance the treatment of these disorders, while preventative and therapeutic measures will arise from molecular genetic research.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Abouzeid H, Youssef MA, ELShakankirii N, et al. PAX6 aniridia and interhemispheric brain abnormalities. Mol Vis 2009;15:2074–2083
Abrams LS, Repka MX. Visual outcome of craniopharyngioma in children. J Pediatr Ophthalmol Strabismus. 1997;34:223–228.
Afifi AK, Dolan KD, Van Gilder JC, et al. Ventriculomegaly in neurofibromatosis 1: Association with Chiari type 1 malformation. Neurofibromatosis. 1988;1:299–305.
Aicardi J. The lissencephaly syndromes. Int Pediatr. 1989;4:118–126.
Aicardi J, Barbosa C, Andermann E, et al. Ataxia-ocular motor apraxia: A syndrome mimicking Ataxia-Telangiectasia. Ann Neurol. 1988;24:497–502.
Aicardi J, Goutieres F. The syndrome of absence of the septum pellucidum with porencephalies and other developmental defects. Neuropediatrics. 1981;12:319–328.
Aitken LA, Lindan CE, Sidney S, et al. Chiari type I malformation in a pediatric population. Pediatr Neurol. 2009;40:449–454.
Albers FW, Ingels JK. Otoneurological manifestations in Chiari-I malformation. J Laryngol Otol. 1993;107:559–564.
Albright AL. Brain tumors in neonates, infants, and toddlers. Contemp Neurosurg. 1985;7:1–6.
Albright AL, Guthkelch AN, Packer RJ, et al. Prognostic factors in pediatric brainstem gliomas. J Neurosurg. 1986;65:751–755.
Albright AL. Brain stem gliomas. In: Youmans J, ed. Neurological Surgery. Philadelphia: Saunders; 1996:2603–2611.
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;26:638–644.
Al-Gazali LI, Donnai D, Berry SA, et al. The oculocerebrocutaneous (Delleman) syndrome. J Med Genet. 1988;25:773–778.
Almeida L, Anyane-Yeboa K, Grossman M, et al. Myelomeningocele, Arnold–Chiari anomaly and hydrocephalus in focal dermal hypoplasia. Am J Med Genet. 1988;30:917–923.
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;13:207–209.
Alper MG. Management of primary optic nerve meningiomas. Current status-therapy in controversy. J Clin Neuroophthalmol. 1981;1:101–117.
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.
Ameri A, Bousser MG. Cerebral venous thrombosis. Neurol Clin. 1992;10:87–111.
Ammar A, Al-Sultan A, Al Mulhim F, et al. Empty sella syndrome: Does it exist in children? J Neurosurg. 1999;91:960–963.
Anderson JM, Brodsky MC. Protracted cortical visual loss in a child with ornithine transcarbylase deficiency. J Neuroophthalmol. 2010; in press.
Andersonn S, Persson E-K, Aring E, et al. Vision in children with hydrocephalus. Dev Med Child Neurol. 2006;48:836–841.
Andriola M, Stolfi J. Sturge–Weber syndrome. Report of an atypical case. Am J Dis Child. 1972;123:507–510.
Aniskiewicz AS, Frumkin NL, Brady DE, et al. Magnetic resonance imaging and neurobehavioral correlates in schizencephaly. Arch Neurol. 1990;47:911–916.
Antinheimo J, Sankila R, Carpen O, et al. Population based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas. Neurology. 2000;54:71–76.
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;107:371–378.
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;39:1108–1113.
Aring E, Andersson S, Hård A-L, et al. Strabismus, binocular functions, and ocular motility in children with hydrocephalus. Strabismus. 2007;15:79–88.
Arnold A. Bilateral internuclear ophthalmoplegia in a young adult. Presented at the 18th Annual Frank B. Walsh Society Meeting, Seattle, Feb. 21-22, 1986.
Arnold AC, Baloh RW, Yee RD, et al. Internuclear ophthalmoplegia in the Chiari type II malformation. Neurology. 1990;40:1850–1854.
Arnold AC, Hepler RS, Yee RW, et al. Solitary retinal astrocytoma. Surv Ophthalmol. 1985;30:173–181.
Arnold RW, Schriever G. Lyme amaurosis in a child. J Pediatr Ophthalmol Strabismus. 1993;30:268–270.
Arora A, Chowdhury D, Daga MK, et al. Reversible posterior leukoencephalopathy syndrome: A report of two cases. Neurol India. 2001;49:311–313.
Arroyo HA, Jan EJ, McCormick AQ, et al. Permanent visual loss after shunt malfunction. Neurology. 1985;35:25–29.
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;28:192–197.
Atebara NH. Retinal capillary hemangioma treated with Verteporfin photodynamic therapy. Am J Ophthalmol. 2002;134:788–790.
Atkinson A, Sanders MD, Wang V. Vitreous haemorrhage in tuberous sclerosis: Report of two cases. Br J Ophthalmol. 1973;57:773–779.
Autunes NL, Small TN, George D, et al. Posterior leukoencephalopathy syndrome may not be reversible. Pediatr Neurol. 1999;20:241–243.
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;23:1103–1121.
Bagianelli EB, Klingele TG, Burde RM. Acute oculomotor nerve palsy in childhood: Is arteriography necessary? J Clin Neuroophthalmol. 1989;9:33–36.
Balcer LJ, Liu GT, Heller G, et al. Visual prognosis in children with neurofibromatosis type-1 and optic pathway gliomas. Am J Ophthalmol. 2001;131:442–445.
Baldauf J, Oertel J, Gaab MR, et al. Endoscopic third ventriculostomy in children younger than 2 years of age. Childs Nerv Syst. 2007;23:623–626.
Balestri P, Vivarelli R, Grosso S, et al. Malformations of cortical development in neurofibromatosis type 1. Neurology. 2003;61:1799–1801.
Balkan R, Hoyt CS. Associated neurologic abnormalities in congenital third nerve palsies. Am J Ophthalmol. 1984;97:315–319.
Baloh RW, Honrubia V, Konrad HR. Periodic alternating nystagmus. Brain. 1976;99:11–26.
Bardelli AM, Hadjistilianou T. Buphthalmos and progressive elephantiasis in neurofibromatosis. A report of three cases. Ophthalmic Paediatr Genet. 1989;10:279–286.
Barker D, Wright E, Nguyen K, et al. Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science. 1987;236:1100–1102.
Barkovich AJ. Neuroimaging of pediatric brain tumors. In: Berger MS, ed. Pediatric Neuro-Oncology. Philadelphia: WB Saunders; 1992:739–770.
Barkovich AJ. Neuroimaging manifestations and classification of congenital muscular dystrophies. AJNR Am J Neuroradiol. 1998;19:1389–1396.
Barkovich AJ. Pediatric Neuroimaging. Philadephia: Lippincott Williams and Wilkins; 2005:231–439.
Barkovich AJ, Fram EK, Norman D. Septo-optic dysplasia: MR imaging. Radiology. 1989;171:189–192.
Barkovich AJ, Gressens P, Evrard P. Formation, maturation, and disorders of brain neocortex. AJNR Am J Neuroradiol. 1992;13:423–446.
Barkovich AJ, Hevner R, Guerrini R. Syndromes of bilateral symmetrical polymicrogyria. AJNR Am J Neuroradiol. 1999;20:1814–1821.
Barkovich AJ, Kjos BO. Gray matter heterotopias: MR characteristics and correlation with developmental and neurological manifestations. Radiology. 1992;182:493–499.
Barkovich AJ, Kjos BO. Non-lissencephalic cortical dysplasia: Correlation of imaging findings with clinical deficits. Am J Neuroradiol. 1992;13:95–103.
Barkovich AJ, Koch TK, Carrol CL. The spectrum of lissencephaly: report of ten patients analyzed by magnetic resonance imaging. Ann Neurol. 1997;30:139–146.
Barkovich AJ, Kjos BO. Schizencephaly: Correlation of clinical findings with MR characteristics. AJNR Am J Neuroradiol. 1992;13:85–94.
Barkovich AJ, Millen KJ, Dobyns WB. A developmental classification of malformations of the brainstem. Ann Neurol. 2007;62:625–639.
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 Neuroadiol. 1989;10:977–988.
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.
Barkovich AJ, Kuziecky RI, Jackson GD, et al. A developmental and genetic classification for malformations of cortical development. Neurology. 2005;65:1873–1887.
Barkovich AJ, Maroldo TV. Magnetic resonance imaging of normal and abnormal brain development. Top Magn Reson Imaging.. 1993;5:96–122.
Barkovich AJ, Norman D. Absence of septum pellucidum: A useful sign in the diagnosis of congenital brain malformations. AJNR Am J Neuroradiol. 1988;9:1107–1114.
Barkovich AJ, Norman D. Anomalies of the corpus callosum: Correlation with further anomalies of the brain. AJNR Am J Neuroradiol. 1988;9:493–501.
Barkovich AJ, Rowley HA, Bollen A. Correlation of prenatal events with the development of polymicrogyria. Am J Neuroradiol. 1995;16:822–827.
Barr D, Kupersmith MJ, Pinto R, et al. Arachnoid cyst of the cavernous sinus resulting in third nerve palsy. J Neuroophthalmol. 1999;19:249–251.
Barros-Nunes P, Rivas F. Autosomal recessive congenital stenosis of aqueduct of Sylvius. Genet Couns. 1993;4:19–23.
Barsky SH, Rosen S, Geer DE, et al. The nature and evolution of port-wine stains: A computer-assisted study. J Invest Dermatol. 1980;74:154–157.
Bartolomei F, Gavaret M, Dravet C, et al. Familial epilepsy with unilateral and bilateral malformations of cortical development. Epilepsia. 1999;40:47–51.
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;75:231–239.
Baum JL. Goldenhar’s syndrome. Arch Ophthalmol. 1992;110:750.
Baum JL, Feingold M. Ocular aspects of Goldenhar’s syndrome. Am J Ophthalmol. 1973;75:250–257.
Baumas-Duport C. Dysembryoplastic neuroepithelial tumors. Brain Pathol. 1993;3:283–295.
Baumgartner JE, Edwards MS. Pineal tumors. In: Berger MS, ed. Pediatric Neuro-Oncology. Philadelphia: WB Saunders; 1992:853–862.
Beck RW, Greenberg HS. Post-decompression optic neuropathy. J Neurosurg. 1985;63:196–199.
Beck RW, Hanno R. The phakomatoses. Int Ophthalmol Clin. 1985;25:97.
Bell WO, Charney EB, Bruce DA, et al. Symptomatic Arnold–Chiari malformation: Review of experience with 22 cases. J Neurosurg. 1987;66:812–818.
Belloni E, Muenke M, Roessler E, et al. Identification of sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet. 1996;14:353–356.
Belman A. Neurologic complications of Lyme disease in children. Int Pediatr. 1992;7:136–143.
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;71:1033–1043.
Bender BL, Yunis EJ. The pathology of tuberous sclerosis. Pathol Annu. 1982;17:339–382.
Berger MS, Edwards MS, LaMasters D, et al. Pediatric brain stem tumors: Radiographic, pathological, and clinical correlations. Neurosurgery. 1983;12:298–302.
Berger L, Gauthier S, Leblanc R. Akinetic mutism and parkinsonism associated with obstructive hydrocephalus. Can J Neurol Sci. 1985;12:255–258.
Berger MS, Keles GE, Geyer JR. Cerebral hemispheric tumors of childhood. In: Berger MS, ed. Pediatric Neuro-Oncology, Neurosurgery Clinics of North America. Philadelphia: WB Saunders; 1992:839–852.
Bianchi-Marzoli S, Righi C, Broncato R, et al. Pseudotumor cerebri in men: the need for cerebral angiography. Presented as a poster at the North American Neuro-Ophthalmology Society, Durango, CO, Feb. 27-March 3, 1994.
Biesecker LG. The multifaceted challenges of Proteus syndrome. JAMA. 2001;285:2240–2243.
Biesecker LG, Peters KF, Darling TN, et al. Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet. 1999;84:389–395.
Biglan AW. Ophthalmologic complications of meningomyelocele: A longitudinal study. Trans Am Ophthalmol Soc. 1990;88:389–462.
Bilaniuk LT, Molloy PT, Zimmerman RA, et al. Neurofibromatosis type 1: Brain stem tumours. Neuroradiology. 1997;39:642–653.
Bilaniuk LT, Zimmerman RA, Littman P, et al. Computed tomography of brain stem gliomas in children. Radiology. 1980;134:89–95.
Billingsley RL, Jackson EF, Slopis JM, et al. Functional MRI of visual-spatial processing in neurofibromatosis, type 1. Neuropsychologia. 2004;42:395–404.
Bindal AK, Storrs BB, McLone DG. Management of the Dandy–Walker syndrome. Pediatr Neurosci 1990-1991;16:163–169.
Biousse B, Newman NJ, Petermann SH, et al. Isolated comitant esotropia and Chiari I malformation. Am J Ophthalmol. 2000;130:216–220.
Biousse V, Tong F, Newman NJ. Cerebral venous thrombosis. Curr Treat Options Cardiovasc Med. 2003;5:181–192.
Bixenman WW, Laguna JF. Acquired esotropia as initial manifestation of Arnold–Chiari malformation. J Pediatr Ophthalmol Strabismus. 1987;24:83–86.
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;107:190–196.
Bloom HJ. Intracranial tumors: Response and resistance to therapeutic endeavors. Int J Radiat Oncol Biol Phys. 1982;8:1083–1113.
Boesel CP, Paulsen GW, Kosnik EJ, et al. Brain hamartomas and tumors associated with tuberous sclerosis. Neurosurgery. 1979;4:410–417.
Bolande RP. Neurofibromatosis - The quintessential neurocristopathy: pathogenetic concepts and relationships. Adv Neurol. 1981;29:67–75.
Boltshauser E, Schneider J, Kollias S, et al. Vanishing cerebellum in myelomeningocele. Eur J Paediatr Neurol. 2002;6:109–113.
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;18:165–178.
Borchert M. Neurocutaneous disorders: Five important things to ponder about their clinical manifestations. Proceedings of the North American Neuro-Ophthalmology Society. Snowmass, CO, March 14-18, 1999.
Borgatti R, Triulzi F, Zucca C, et al. Bilateral perisylvian polymicrogyria in three generations. Neurology. 1999;52:1910–1913.
Bosch MM, Boltshauser E, Harpes P, et al. Ophthalmologic findings and long-term course in patients with neurofibromatosis type 2. Am J Ophthalmol. 2006;141:1068–1077.
Bosch MM, Wichmann WW, Boltshauser E, et al. Optic nerve sheath meningiomas in patients with neurofibromatosis type 2. Arch Ophthalmol. 2006;124:379–385.
Bosch MM, Mironov A, Killer HE. Atypical manifestation of neurofibromatosis type 2 in a boy. Eye (Lond). 2005;19:705–706.
Bouzas EA, Freidlin V, Parry DM, et al. Lens opacities in neurofibromatosis 2: Further significant correlations. Br J Ophthalmol. 1993;77:354–357.
Bouzas EA, Krasnewich D, Koutroumanidis M, et al. Ophthalmologic examination in the diagnosis of Proteus syndrome. Ophthalmology. 1993;100:334–338.
Bouzas EA, Mastorakos G, Chrousos GP, et al. Lisch nodules in Cushing’s disease. Arch Ophthalmol. 1993;111:439–440.
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;183:227–238.
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.
Branco G, Goulao A, Ferro JM. MRI in aqueduct compression and obstructive hydrocephalus due to an ecstatic basilar artery. Neuroradiology. 1993;35:447–448.
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, April 17-21, 2009.
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;43:490–495.
Brenner DJ, Hall EJ, Phil D. Computed tomography: An increasing source of radiation exposure. N Engl J Med. 2007;357:2277–2284.
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;16:675–683.
Bristol RE, Albuquerque FC, Spetzler RF, et al. Surgical management of arteriovenous malformations in children. J Neurosurg. 2006;105:88–93.
Brock S, Dyke CG. Venous and arteriovenous angiomas of the brain: A clinical and roentgenographic study of eight cases. Bull Neurol Inst NY. 1932;2:247–293.
Brodsky MC. The “pseudo-CSF” signal of orbital optic glioma on magnetic resonance imaging: a signature of neurofibromatosis. Surv Ophthalmol. 1993;38:213–218.
Brodsky MC. Morning glory disc anomaly or optic disc coloboma? Arch Ophthalmol. 1994;112:153.
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;105:717–725.
Brodsky MC. Optic nerve hypoplasia with posterior pituitary ectopia: Male predominance and nonassociation with breech delivery. Am J Ophthalmol. 1999;127:238–239.
Brodsky MC. Three dimensions of skew deviation. Br J Ophthalmol. 2003;87:1440–1441.
Brodsky MC. Circumpapillary choroidal hemorrhoid in Klippel–Trenauney–Weber syndrome. BJO. 2007;91:394.
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;122:125–126.
Brodsky MC, Boop FA. Lid nystagmus in diffuse ophthalmoplegia as a sign of intrinsic midbrain disease. J Neuroophthalmol. 1995;15:236–240.
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;33:328–333.
Brodsky MC, Boop FA. Fourth ventricular ependymoma in a child with Duane Retraction syndrome. Pediatr Neurosurg. 1997;26:157–159.
Brodsky MC, Conte FA, Taylor D, et al. Sudden death in septo-optic dysplasia. Report of 5 cases. Arch Ophthalmol. 1997;115:66–70.
Brodsky MC, Fray KJ. Brainstem hypoplasia in the Wildervanck (Cervico-oculo-acoustic) syndrome. Arch Ophthlamol. 1998;116:383–384.
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.
Brodsky MC, Harper RA, Keppen LD, et al. Anophthalmia in Delleman syndrome. Am J Med Genet. 1990;37:157–158.
Brodsky MC, Hoyt WF. Spontaneous involution of retinal and intracranial arteriovenous malformation in Bonnet-Dechaume-Blanc syndrome. Br J Ophthalmol. 2002;86:360–361.
Brodsky MC, Hoyt WF, Higashida RT, et al. Bonnet-Dechaume-Blanc syndrome with large facial angioma. Arch Ophthalmol. 1987;105:854–855.
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;113:624–628.
Brodsky MC, Kincannon JM, Nelson-Adesokan P, et al. Oculocerebral dysgenesis in the linear sebaceous nevus syndrome. Ophthalmology. 1997;194:497–503.
Brodsky MC, Landau K, Wilson RS, et al. Morning glory disc anomaly in neurofibromatosis type 2. Arch Ophthalmol. 1999;117:839–841.
Brodsky MC, Safar AN. Optic disc tuber. Arch Ophthalmol. 2007;125:712–714.
Brooks PJ. DNA repair in neural cells: Basic science and clinical implications. Mutat Res. 2002;509:93–108.
Brown SA, Warburton D, Brown LY, et al. Holoprosencephaly due to mutations in ZIC2, a homolog of Drosophila odd-paired. Nat Genet. 1998;20:180–183.
Bruce DA, Weprin B. The slit-ventricle syndrome. Neurosurg Clin North Am. 2001;36(4):709–717.
Brunelli S, Faiella A, Capra V, et al. Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nat Genet. 1996;12:94–96.
Brusilow SW. Inborn errors of urea synthesis: Paradigm of hyperammonemic encephalopathy. In: Berg BO, ed. Principles of Child Neurology. New York: McGraw-Hill; 1996:979–995.
Brzowski AE, Bazan C III, Mumma JV, et al. Spontaneous regression of optic glioma in a patient with neurofibromatosis. Neurology. 1992;42:679–681.
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;66:186–189.
Buchhalter JR, Dichter MA. Migraine/epilepsy syndrome mimicking shunt malfunction in a child with shunted hydrocephalus. J Child Neurol. 1990;5:69-71. Letter.
Bullard DE, Crockard A, McDonald WI. Spontaneous cerebrospinal fluid rhinorrhea associated with dysplastic optic discs and a basal encephalocele. J Neurosurg. 1981;54:807–810.
Burch JV, Leveille AS, Morse PH. Ichthyosis hystrix (epidermal nevus syndrome) and Coat’s disease. Am J Ophthalmol. 1980;89:25–30.
Burke JP, West NF, Strachan IM. Congenital nystagmus, anisomyopia, and hemimegalencephaly in the Klippel–Trenauney–Weber syndrome. J Ophthalmol Strabismus. 1991;28:41–44.
Burns AJ, Kaplan LC, Mulliken JB. Is there an association between hemangioma and syndromes with dysmorphic features? Pediatrics. 1991;88:1527.
Burrows PE, Robertson RL, Mulliken JB, et al. Cerebral vasculopathy and neurologic sequelae in infants with cervicofacial hemangioma: Report of eight patients. Radiology. 1998;207:601–607.
Burzynski SR. Treatments for astrocytic tumors in children. Current and emerging strategies. Paediatr Drugs. 2006;8:167–178.
Busch W. Die Morphologie der Sella Turcica und ihre Beziehungen zure Hypophyse. Arch F Path Anat. 1951;320:437–458.
Butler IJ. Cerebrovascular disorders of childhood. J Child Neurol. 1993;8:197-200. Editorial.
Butman JA, Linchan WM, Lonser RR. Neurologic manifestations of von Hippel–Lindau disease. JAMA. 2008;300:1334–1342.
Buttner U, Buttner-Ennever JA, Rambold H, et al. The contribution of midbrain circuits in the control of gaze. Ann NY Acad Sci. 2002;956:99–110.
Byrne JV, Kendall BE, Kingsley DP, et al. Lesions of the brain stem: Assessment by magnetic resonance imaging. Neuroradiology. 1989;31:129–133.
Calabrò F, Arcuri T, Jinkins JR. Blake’s pouch cyst: An entity within the Dandy–Walker continuum. Neuroradiolaoy. 2000;42:290–295.
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;106:187–195.
Callaway MP, Renowden SA, Lewis TT, et al. Middle cranial fossa arachnoid cysts: Not always a benign entity. Br J Radiol. 1998;71:441–443.
Calogero JA, Alexander E. Unilateral amaurosis in a hydrocephalic child with an obstructed shunt. Case report. J Neurosurg. 1971;34:236–240.
Campbell SH, Patterson A. Pseduopapilledema in the linear naevus syndrome. Br J Ophthalmol. 1992;76:372–374.
Canbaz B, Akar Z, Yilmazlar S, et al. Warburg syndrome. Neurol Res. 1994;16:145–147.
Caprioli J, Lesser RL. Basal encephalocele and morning glory syndrome. Br J Ophthalmol. 1983;67:349–351.
Caraballo RH, Cersósimo RO, Mazza E, et al. Focal polymicrogyria in mother and son. Brain Dev. 2000;22:336–339.
Carney SH, Brodsky MC, Good WV, et al. Aicardi syndrome: More than meets the eye. Surv Ophthalmol. 1993;37:419–424.
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;21:31–36.
Cartmill B, Lacey B. Trochlear displacement by orbital plexiform neuroma: A novel mechanism causing superior oblique underaction. Eye. 2006;20:1388–1389.
Carvalho KS, Bodensteiner JB, Connolly PJ, et al. Cerebral venous thrombosis in children. J Child Neurol. 2001;16:574–580.
Cavanagh EC, Hart BL, Rose D. Association of linear sebaceous nevus syndrome and unilateral megalencephaly. AJNR Am J Neuroradiol. 1993;14:405–408.
Cedzich C, Schramm J, Wenzel D. Reversible visual loss after shunt malfunction. Acta Neurochir (Wien). 1990;105:121–123.
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.
Central Brain Tumor Registry of the US. Statistical report: Primary brain tumors in the United States, 1998–2002.
Ceyhan M, Erdem G, Kanra G, Kaya S, Onerci M. Lymphoma with bilateral cavernous sinus involvement in early childhood. Pediatr Neurol. 1994;10:67.
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;63:1236–1242.
Chang BS, Apse KA, Caraballo R, et al. The familial syndrome of unilateral polymicrogyria affecting the right hemisphere. Neurology. 2006;66:133–135.
Charles SJ, Moore AT, Yates JR, et al. Lisch nodules in neurofibromatosis type 2. Arch Ophthalmol. 1989;107:1571.
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;55:1092–1102.
Chernov M, Kamikawa S, Toledo R, et al. Neurofiberscope-guided management of slit-ventricle syndrome due to shunt placement. J Neurosurg. 2005;102:260–267.
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.
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;109:61–66.
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.
Christodoulou J, Quereshi IA, McInees RR, et al. Ornithine transcarbamylase deficiency presenting with strokelike episodes. J Pediatr. 1993;122:423–425.
Chuang SH, Fitz CR, Chilton SJ, et al. Schizencephaly: Spectrum of CT findings in association with septo-optic dysplasia. Radiology. 1984;153:118. Abstract.
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;78:568–573.
Cibis GW, Tripathi RC, Tripathi BJ. Glaucoma in Sturge–Weber syndrome. Ophthalmology. 1984;91:1061–1071.
Cibis GW, Whittaker CK, Wood WE. Intraocular meningioma with intraocular extension. Mayo Clin Proc. 1977;52:504–508.
Cibis GW, Whittaker CK, Wood WE. Intraocular extension of optic nerve meningioma in a case of neurofibromatosis. Arch Ophthalmol. 1985;103:404–406.
Clancy RR, Kurtz MB, Baker D. Neurologic manifestations of the organoid nevus syndrome. Arch Neurol. 1985;42:236–240.
Clark AC, Nelson LB, Simon JW, et al. Acute acquired comitant esotropia. Br J Ophthalmol. 1989;73:636–638.
Claudio JO, Veneziale RW, Menko AS, et al. Expression of schwannomin in lens and Schwann cells. Neuroreport. 1997;8:2025–2030.
Coats DK, Paysse EA, Levy ML. PHACE: A neurocutaneous syndrome with important ophthalmologic implications. Ophthalmology. 1999;106:1739–1741.
Cobbs WH, Schatz NJ, Savino PJ. Midbrain eye signs in hydrocephalus. Ann Neurol. 1978;4:172.
Cogan DG. Convergence nystagmus. Arch Ophthalmol. 1959;62:295–299.
Cogan DG, Loeb DR. Optokinetic responses and intracranial lesions. Arch Neurol Psychiat. 1947;61:183–187.
Cogan DG, Wray SH. Internuclear ophthalmoplegia as an early sign of brain stem tumors. Neurology. 1970;20:629.
Cohen AR. Endoscopic neurosurgery. In: Wilkins RH, Rengachary SS, eds. Neurosurgery, vol. 1. 2nd ed. New York: McGraw-Hill; 1996:539–546.
Cohen ME, Duffner PK. Brain Tumors in Children. 2nd ed. New York: Raven; 1994.
Cohen ME, Duffner PK, Heffner RR, et al. Prognostic factors in brainstem gliomas. Neurology. 1986;36:602–605.
Comi A, Hunt P, Vawter MP, et al. Increrased fibronectin expression in Sturge–Weber syndrome fibroblasts and brain tissue. Pediatr Res. 2003;53:762–769.
Connolly MB, Jan JE, Cochrane DD. Rapid recovery from cortical visual impairment following correction of prolonged shunt malfunction in congenital hydrocephalus. Arch Neurol. 1991;48:956–957.
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;123:1141–1143.
Conway JE, Chou D, Clatterbuck RE, et al. Hemangioblastomas of the central nervous system in von Hippel–Lindau syndrome and sporadic disease. Neurosurgery. 2001;48:55f-62f.
Coppetto JR, Gahn NG. Bitemporal hemianopic scotoma: A complication of intraventricular catheter. Surg Neurol. 1977;8:361–362.
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;33:180–185.
Corbett JJ. Neuro-ophthalmologic complications of hydrocephalus and shunting procedures. Semin Neurol. 1986;6:111–123.
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;64:126–134.
Cormand B, Pihko H, Bayés M, et al. Clinical and genetic distinction between Walker–Warburg syndrome and muscle–eye–brain disease. Neurology. 2001;56:1059–1069.
Costa RM, Federov NB, Kogan JH, et al. Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1. Nature. 2002;415:526–530.
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;13:224–227.
Coulon RA, Toll K. Intracranial ependymomas in children: A review of 43 cases. Childs Brain. 1977;3:154–168.
Covarrubias DJ, Luetmer PH, Campeau NG. Posterior reversible encephalopathy syndrome: Prognostic utility of quantitative diffusion-weighted images. AJNR Am J Neuroradiol. 2002;23:1038–1048.
Coyle JT. Goldenhar’s syndrome. Arch Ophthalmol. 1991;109:916.
Cozad SC, Townsent P, Morantz RA, et al. Gliomatosis cerebri: Results with radiation therapy. Cancer. 1996;78:859–862.
Crassard I, Bousser M-G. Central venous thrombosis: Diagnosis and treatment. Proceedings of the North American Neuro-Ophthalmology Society. Copper Mountain, CO, Feb. 9-14, 2002:165–171.
Crino PG. Molecular pathogenesis of tuber formation in tuberous sclerosis complex. J Child Neurol. 2004;19:716–725.
Crosley CJ, Binet EF. Sturge–Weber syndrome. Presentation as a focal seizure disorder without nevus flammeus. Clin Pediatr (Phila). 1978;17:606–609.
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.
Cruz-Velarde JA, Munoz L, Rodrigalvarez R, et al. Intracranial hypertension as the first clinical manifestation of gliomatosis cerebri. Neurologia. 2000;15:32–34.
Cunliffe IA, Moffat DA, Hardy DG, et al. Bilateral optic nerve sheath meningiomas in a patient with neurofibromatosis type 2. Br J Ophthalmol. 1992;76:310–312.
Cushing H. Experiences with the cerebellar medulloblstoma: A critical review. Acta Pathol Microbiol Scand. 1930;7:1–86.
Cusmai R, Curatolo P, Mangano S, et al. Hemimegalencephaly and neurofibromatosis. Neuropediatrics. 1989;21:179–182.
D’Arrigo S, Viganò L, Bruzzone MG, et al. Diagnostic approach to cerebellar disease in children. J Child Neurol. 2005;20:859–866.
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.
Dagi LR, Chrousos GA, Cogan DC. Spasm of the near reflex associated with organic disease. Am J Ophthalmol. 1987;103:582–585.
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;65:2755–2760.
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;19:125–133.
Dattani MT, Robertson IC. HESX1 and septo-optic dysplasia. Rev Endocr Metab Disord. 2002;3:289–300.
Daumas-Duport C, Scheithauer BW, et al. Dyembryoplastic neuroepithelial tumor: A surgically-curable tumor of young patients with intractable partial seizures. Neurosurgery. 1988;23:545–556.
Davidson JE, McWilliam RC, Evans TJ, et al. Porencephaly and optic hypoplasia in neonatal thrombocytopenia. Arch Dis Child. 1989;64:858–860.
Davis CH, Joglekar VM. Cerebellar astrocytomas in children and young adults. J Neurol Neurosurg Psychiatry. 1981;44:820–828.
de Jong PT, Verkaart RJF, van de Vooren MJ, et al. Twin vessels in von Hippel–Lindau disease. Am J Ophthalmol. 1988;105:165–169.
de Juan E, Green WR, Gupta PK, et al. Vitreous seeding by retinal astrocytic hamartoma in a patient with tuberous sclerosis. Retina. 1984;4:100–102.
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;18:773–788.
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;133:723–725.
Del Bigio MF. Neuropathological changes caused by hydrocephalus. Acta Neuropathol (Berl). 1993;85:578–585.
del Toro M, Macaya A, Vasquez E, et al. Painful ophthalmoplegia with reversible carotid stenosis in a child. Pediatr Neurol. 2001;24:317–319.
DeLeon GA, Grant JA, Darling CF. Monstrous, crablike hypertrophy of the cerebellar vermins and its relationship with Lhermitte-Duclos disease. J Neurosurg. 1996;85:157–159.
Delleman JW, Oorthuys JE. Orbital cyst in addition to congenital cerebral and focal dermal malformations. A new entity? Clin Genet. 1981;19:191–198.
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;9:368–377.
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.
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;7:1063–1070.
De-Santi MM, Magni A, Valletta EA, et al. Hydrocephalus, bronchiectasis, and ciliary aplasia. Arch Dis Child. 1990;65:543–544.
Destro M, D’Amico DJ, Gragoudas ES, et al. Retinal manifestations of neurofibromatosis: Diagnosis and management. Arch Ophthalmol. 1991;109:662–666.
Deutsch M. Medulloblastoma: Staging and treatment outcome. Int J Radiat Oncol Biol Phys. 1988;14:1103–1107.
deVeber G, Andrew M, Adams C, et al. Cerebral sinovenous thrombosis in children. N Engl J Med. 2001;345:417–423.
Dexter MA, Parker GD, Besser M. MR and positron emission tomography with fludeoxyglucose F 18 in gliomatosis cerebri. AJNR Am J Neuroradiol. 1995;16:1507–1510.
Di Rocco C, Battaglia D, Pietrini D, et al. Hemimegalencephaly: Clinical implications and surgical treatment. Childs Nerv Syst. 2006;22:852–866.
Di Rocco C, Tamburrini G. Sturge–Weber syndrome. Childs Nerv Syst. 2006;22:909–921.
Di Rocco C, Velardi F. Acquired Chiari type I malformation managed by supratentorial cranial enlargement. Childs Nerv Syst. 2003;19:800–807.
Dias MS, McLone DG. Hydrocephalus in the child with dysraphism. Neurosurg Clin North Am. 1993;4:715–726.
Dichgans M. A new cause of hereditary small vessel disease: Angiopathy of retina and brain. Neurology. 2003;60:8–9.
Diebler C, Dulac O. Cephalocoeles: Clinical and neuroradiological appearance. Neuroradiology. 1983;25:199–216.
DiMario FJ, Ramsby G, Greenstein R, et al. Neurofibromatosis type 1: Magnetic resonance imaging findings. J Child Neurol. 1993;8:32–39.
DiPaolo D, Zimmerman RA. Solitary cortical tubers. AJNR Am J Neuroradiol. 1995;16:1360–1364.
DiPaolo D, Zimmerman RA, Rorke LB, et al. Pathological substrate of high intensity foci in neurofibromatosis type 1. Radiology. 1995;195:721–724.
Di-Rocco C. Is the slit ventricle syndrome always a slit ventricle syndrome? Childs Nerv Syst. 1994;10:49–58.
Diven DG, Solomon AR, McNeely MC, et al. Nevus sebaceus associated with major ophthalmologic abnormalities. Arch Dermatol. 1987;123:383–386.
Dobyns WB, Pagon RA, Armstrong D, et al. Diagnostic criteria for Walker–Warburg syndrome. Am J Med Genet. 1989;32:195–210.
Dobyns WB, Truwit CL. Lissencephaly and other malformations of cortical development: 1995 update. Neuropediatrics. 1995;26:132–147.
Donaldson SS, Laningham F, Fisher PG. Advances toward an understanding of brainstem glioma. J Clin Oncol. 2006;24:1266–1272.
Dooley JM, LaRoche GR, Tremblay F, et al. Autosomal recessive cerebellar hypoplasia and tapeto-retinal degeneration: A new syndrome. Pediatr Neurol. 1992;8:232–234.
Dorotheo EU, Tang RA, Bahrani HM, et al. Her vision was tied down. Surv Ophthalmol. 2005;50:588–596.
Dosseter FM, Landau K, Hoyt WF. Optic disk glioma in neurofibromatosis type 2. Am J Ophthalmol. 1989;108:602–603.
Dotan SA, Trobe JD, Gebarski SS. Visual loss in tuberous sclerosis. Neurology. 1991;41:1915–1917.
Dowhan TP, Muci-Mendoza R, Aitken PA. Disappearing optociliary shunt vessels and neonatal hydrocephalus. J Clin Neuroophthalmol. 1988;8:1–8.
Drake J. Slit-ventricle syndrome. J Neurosurg. 2005;102:257–259.
Dropcho EJ, Wisoff JH, Walker RW, et al. Supratentorial malignant gliomas in childhood: A review of fifty cases. Ann Neurol. 1987;22:355–364.
Dubowitz V. 68th ENMC International Workshop (5th International Workshop): On congenital muscular dystrophy, 9-11 April 1999, Naarden, the Netherlands. Neuromuscul Disord. 1999;9:446–454.
Duffner PK, Cohen ME, Seidel FG, et al. The significance of MRI abnormalities in children with neurofibromatosis. Neurology. 1989;39:373–378.
Dyck PJ, Mellinger JF, Reagan TJ, et al. Not indifference to pain but varieties of hereditary sensory and autonomic neuropathy. Brain. 1983;106:373–390.
Dyste GN, Menezes AH, VanGilder JC. Symptomatic Chiari malformations. An analysis of presentation, management, and long term outcome. J Neurosurg. 1989;71:159–168.
Eckman PB, Fountain EM. Unilateral proptosis: Association with arteriovenous malformations involving the Galenic system. Arch Neurol. 1974;31:350–351.
Edwards MS, Hudgins RJ, Wilson CB, et al. Pineal region tumors in children. J Neurosurg. 1988;68:689–697.
Effron L, Zakov ZN, Tomsak RL. Neovascular glaucoma as a complication of the Wyburn-Mason syndrome. J Clin Neuroophthalmol. 1985;5:95–98.
Eide PK. Assessment of quality of continuous intracranial pressure recordings in children. Pediatr Neurosurg. 2006;42:28–34.
Eldridge R, Denckla MB, Bien E, et al. Neurofibromatosis type 1 (Recklinghausen’s disease). Am J Dis Child. 1989;143:833–839.
Ellenbogen RG, Winston KR, Kupsky WJ. Tumors of the choroid plexus in children. Neurosurgery. 1989;25:327–335.
Emery JL, Gadston DR. A quantitative study of the cell population of the cerebellum in children with myelomeningocele. Dev Med Child Neurol. 1975;15:20–25.
Epstein F, Wisoff JH. Intrinsic brain stem tumors in childhood: Surgical indications. J Neurooncol. 1988;6:309–317.
Ernestus RI, Wilcked O, Schroder R. Supratentorial ependymomas in childhood: Clinicopathological findings and prognosis. Acta Neurochir. 1991;111:96–102.
Ersahin Y, Mutluer S, Guzelbag E. Intracranial hydatic cysts in children. Neurosurgery. 1993;33:219–225.
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):317–320.
Espinosa JA, Giroux M, Johnson K, et al. Abducens palsy following shunting for hydrocephalus. Can J Neurol Sci. 1993;20:123–125.
Evans DG, Baser ME, McGaughran J, et al. Malignant peripheral nerve sheath tumors in neurofibromatosis 1. J Med Genet. 2002;39:311–314.
Evans DG, Baser ME, O’Reilly B, et al. Management of the patient and family with neurofibromatosis 2: A consensus conference statement. Br J Neurosurg. 2002;96:223–228.
Evans DG, 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.
Evans DG, Huson SM, Donnai D, et al. A clinical study of type 2 neurofibromatosis. Q J Med. 1992;84:603–618.
Evans AE, Jenkin RD, Sposto R, et al. The treatment of medulloblastoma. J Neurosurg. 1990;72:572–582.
Evans DG, 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;26:93–97.
Evans DG, 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;35:450–455.
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;42:14–19.
Faillace WJ, Canady AI. Cerebrospinal fluid shunt malfunction signaled by new or recurrent seizures. Childs Nerv Syst. 1990;6:37–40.
Farina L, Uggetti C, Ottolini A, et al. Ataxia-telangectasia: MR and CT findings. J Comput Assist Tomogr. 1994;18:724–727.
Farmer J-T, Khan S, Khan A, et al. Neurofibromatosis type 1 and the pediatric neurosurgeon: A 2-year institutional review. Pediatr Neurosurg. 2002;37:122–136.
Farr AK, Shalev B, Crawford TO, et al. Ocular manifestations of ataxia-telangectasia. Am J Ophthalmol. 2002;134:891–896.
Farrell CJ, Plotkin SR. Genetic causes of brain tumors: Neurofibromatosis, tuberous sclerosis, von Hippel–Lindau, and other syndromes. Neurol Clin. 2007;25:925–946.
Farwell JR, Flannery JT. Pinealomas and germinomas in children. J Neurooncol. 1989;7:13–19.
Fauser S, Huppertz H, Bast T, et al. Clinical characteristics of focal cortical dysplasia. Brain. 2006;129:1907–1916.
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 1006;37:83-87
Felix I, Becker LE. Intracranial germ cell tumors in children: An immunohistochemical and electron microscopic study. Pediatr Neurosurg. 1991;16:156–162.
Felsberg GJ, Glass JP, Tien RD, et al. Gliomatosis cerebri presenting with optic nerve involvement. Neuroradiology. 1996;38:774–777.
Ferner RE. National Institutes of Health Consensus Development Conference Statement: Neurofibromatosis. Arch Neurol. 1988;45:575–578.
Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: A twenty first century perspective. Lancet Neurol. 2007;6:340–351.
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;56:492–495.
Ferrer JA. General Fibrosis syndrome. In: Fells P, ed. The Second Congress of the International Strabismological Association: Transactions of a Congress held at Marseilles, France, May 20, 1974. Marseilles: Diffusion Generale de Librairie 1976:352–361.
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;126:1376–1380.
Feucht M, Richard G, Mautner VF. Neurofibromatosis 2 leads to choroidal hyperfluorescence in fluorescein angiography. Graefes Arch Clin Exp Ophthalmol. 2007;245:949–953.
Feuerstein RC, Mims LC. Linear nevus sebaceous with convulsions and mental retardation. Am J Dis Child. 1963;104:675–679.
Fielder A. Ophthalmic complications of spina bifida and hydrocephalus. Eye. 1991;5(pt 3):vii. Editorial.
Figueroa RE, Gammal TE, Brooks BS, et al. MR findings on primitive neuroectodermal tumors. J Comput Assist Tomogr. 1989;13:773–778.
Fitz C. Magnetic resonance imaging of pediatric brain tumors. Top Magn Reson Imaging. 1993;5:174–189.
Fivenson DP, Lucky AW, Iannoccone S. Sjögren-Larsson syndrome associated with the Dandy–Walker malformation: Report of a case. Pediatr Dermatol. 1989;6:312–315.
Foltz EL, Blanks JP. Symptomatic low intracranial pressure in shunted hydrocephalus. J Neurosurg. 1988;68:401–408.
Fox AJ. Angiography for third nerve palsy in children. J Clin Neuroophthalmol. 1989;9:37–38.
Fox JW, Lamperti ED, Eksioglu YZ, et al. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron. 1998;21:1315–1325.
Fraenzer JT, Pan H, Minimo L Jr, et al. Overexpression of the NF2 gene inhibits schwannoma cell proliferation through promoting PDGFR degradation. In J Oncol. 2003;23:1493–1500.
Fraioli B, Ferrante L, Celli P. Pituitary adenomas with onset during puberty. J Neurosurg. 1983;59:590–595.
Franz DN, Leonard J, Tudor C, et al. Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. Ann Neurol. 2006;59:490–498.
Friede R. Developmental Neuropathology. Berlin: Springer; 1989.
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;132:307–311.
Friedman JM. Epidemiology of neurofibromatosis type 1. Am J Med Genet. 1999;89:1–6.
Friedman HS, Oakes WJ, Bigner SH, et al. Medulloblastoma tumor: Biological and clinical perspectives. J Neurooncol. 1991;11:1–15.
Frisén L, Jensen C. How robust is the optic chiasm? Perimetric and neuro-imaging correlations. Acta Neurol Scand. 2008;117:198–204.
Frizzell RT, Kuhn F, Morris R, et al. Screening for ocular hemorrhages in patients with ruptured cerebral aneurysms: a prospective study. Neurosurgery. 1997;41:529–534.
Fryer AE, Chalmers A, Connor JM, et al. Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet. 1987;1:659.
Fu EX, Kosmorsky GS, Traboulsi EI. Giant intracavernous carotid aneurysm presenting as isolated sixth nerve palsy in an infant. Br J Ophthalmol. 2008;92:576–577.
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;165:487–489.
Furman JM, Wall C III, Pang D. Vestibular function in periodic alternating nystagmus. Brain. 1990;113:1425–1439.
Gaffney CC, Sloane JP, Bradley NJ, et al. Primitive neuroectodermal tumours of the cerebrum. J Neurooncol. 1985;3:23–33.
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;98:269–276.
Galetta SL, Smith JL. Chronic isolated sixth nerve palsies. Arch Neurol. 1989;46:79–82.
Garcia DM, Latifi HR, Simpson JR, et al. Astrocytomas of the cerebellum in children. J Neurosurg. 1989;71:661–664.
Garg BP. Colpocephaly: An error of morphogenesis? Arch Neurol. 1982;39:243–246.
Garrity JA. Primary optic nerve sheath meningioma in children. Surv Ophthalmol. 2008;53:543–558.
Gass JD. Cavernous hemangioma of the retina: a neuro-oculo-cutaneous syndrome. Am J Ophthalmol. 1971;71:799–814.
Gass JD. Stereoscopic Atlas of Macular Diseases: Diagnosis and Treatment. 3rd ed. St. Louis, MO: CV Mosby; 1987:420–421.
Gass JD. Stereoscopic Atlas of Diffuse Macular Disease: Diagnosis and Treatment, vol. 2. 3rd ed. St. Louis, MO: CV Mosby; 1990:640–648.
Gass JD. Stereoscopic Atlas of Macular Diseases: Diagnosis and Treatment. 4th ed. St Louis: CV Mosby; 1997:836–839.
Gaston H. Ophthalmic complications of spina bifida and hydrocephalus. Eye. 1991;5(pt 3):279–290.
Gatti RA, Berkel I, Boder E, et al. Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature. 1988;336:577.
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.
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;34:17–19.
Gelsberg GJ, Glass JP, Tien RD, et al. Gliomatosis cerebri presenting with optic nerve involvement. Neuroradiology. 1996;38:774–777.
Geyer JR. Infant brain tumors. In: Berger MS, ed. Pediatric Neuro-Oncology, Neurosurgery Clinics of North America. Philadelphia: WB Saunders; 1992:781–791.
Ghose S. Optic nerve changes in hydrocephalus. Trans Ophthalmol Soc UK. 1983;103(pt 2):217–220.
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;18:559–564.
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.
Gingold SI, Winfield JA. Oscillopsia and primary cerebellar ectopia: Case report and review of the literature. Neurosurgery. 1991;29:932–936.
Glanzmann C, Seelentag W. Radiotherapy for tumours of the pineal region and suprasellar germinomas. Radiother Oncol. 1989;16:31–40.
Glauser TA, Packer RJ. Cognitive deficits in long-term survivors of childhood brain tumors. Childs Nerv Syst. 1991;7:2–12.
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;136:416–417.
Goh S, Butler W, Thiele EA. Subependymal giant cell tumors in tuberous sclerosis complex. Neurology. 2004;63:1457–1461.
Goh S, Kwiatkowski DJ, Dorer DJ, et al. Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex. Neurology. 2005;65:235–238.
Goldberg MF, Custis PH. Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome). Ophthal-mology. 1993;100:1645–1654.
Goldwein JR, Glauser TA, Packer RJ, et al. Recurrent intracranial ependymomas in children: survival, patterns of failure, and prognostic factors. Cancer. 1990;66:557–563.
Goldwein JW, Leahy JM, Packer RJ, et al. Intracranial ependymomas in children. Int J Radiat Oncol Biol Phys. 1990;19:1497–1502.
Gomez MR. Diagnostic criteria. In: Gomez MR, ed. Tuberous Sclerosis. 2nd ed. New York: Raven; 1985:63–74.
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;102:726–729.
Good WV, Brodsky MC, Edwards MS, et al. Bilateral retinal hamartomas in neurofibromatosis type 2. Br J Ophthalmol. 1991;75:190.
Good WV, Hoyt CS. Optic nerve shadow enlargement in the Klippel–Trenauney–Weber syndrome. J Pediatr Ophthalmol Strabismus. 1989;26:288–290.
Good WV, Jan JE, DeSa L, et al. Cortical visual impairment in children. Surv Ophthalmol. 1994;38:351–364.
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.
Gorlin RJ, Pindborg JJ, Cogen MM. Oculoauriculovertebral spectrum. Syndromes of the Head and Neck. 3rd ed. New York: McGraw-Hill; 1989:641–649.
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.
Gould DB, Phalen FC, Breedveld GJ. Mutations in Col4AI cause perinatal cerebral hemorrhage and porencephaly. Science. 2005;308:1167–1170.
Granata T, Battaglia G, D’Incerta L, et al. Schizencephaly: Clinical findings. In: Guerrini R, ed. Dysplasias of the cerebral cortex and epilepsy. Philadelphia: Lippincott-Raven; 1996:407–415.
Granata T, Farina L, Faiella A, et al. Familial schizencephaly associated with EMX2 mutation. Neurology. 1997;48:1403–1406.
Grand MG, Kaine J, Fulling K, et al. Cerebroretinal vasculopathy. Ophthalmology. 1988;95:649–659.
Griffiths D, Blaser S, Boodram MB, et al. Choroid plexus size in young children with Sturge–Weber syndrome. AJNR Am J Neuroradiol. 1996;17:175–180.
Grüter T, Grüter M. An underestimated handicap: Congenital prosopagnosia. EUPO course 2008, Geneva, Switzerland, Sept 5-7:51–53.
Grüter M, Grüter T, Bell V, et al. Hereditary prosopagnosia: The first case series. Cortex. 2007;43:734–739.
Guerreiro MM, Andermann E, Guerrini R, et al. Familial perisylvian polymicrogyria: A new familial syndrome of cortical maldevelopment. Ann Neurol. 2000;48:39–48.
Guerrini R, Dobyns WB, Barkovich AJ. Abnormal development of the human cerebral cortex: genetics, functional consequences, and treatment options. Trends Neurosci. 2008;31:154–162.
Guerrini R, Marini C. Genetic malformations of cortical development. Exp Brain Res. 2006;173:322–323.
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.
Gupta M, Dinakaran S, Chan TK. Congenital Horner syndrome and hemiplegia secondary to carotid dissection. J Pediatr Ophthalmol Strabismus. 2005;42:122–124.
Guy JR, Friedman WF, Mickle JP. Bilateral trochlear nerve paresis in hydrocephalus. J Clin Neuroophthalmol. 1989;9:105–111.
Hager BC, Dyme IZ, Guertin SR, et al. Linear sebaceous nevus syndrome: Megalencephaly and heterotopic gray matter. Pediatr Neurol. 1991;7:45–49.
Hain TC, Luebke A. Phoria adaptation in patients with cerebellar lesions. Invest Ophthalmol Vis Sci. 1990;31:1394–1397.
Halbach VV, Higashida RT, Hieshima GB. Treatment of intracranial aneurysm by balloon embolization therapy. Semin Interv Radiol. 1987;4:261–268.
Haltia M, Leivo I, Somer H, et al. muscle–eye–brain disease: A neuropathological study. Ann Neurol. 1997;41:173–180.
Hamed LM. Alternating skew on lateral gaze simulating bilateral superior oblique overaction. Binocul Vis Strabismus Q. 1992;7:83–88.
Hamed LM. Superior oblique overaction: Some nosologic considerations. Am Orthopt J. 1993;43:82–86.
Hamed LM, Fang E, Fanous M, et al. The prevalence of neurological dysfunction in children with strabismus who have superior oblique overaction. Ophthalmology. 1993;100:1483–1487.
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 Ophtalmol Strabismus. 1996;33:164–166.
Harding BN, Copp AJ. Malformations. In: Graham DI, Lantos PL, eds. Greenfield’s Neuropathology. London: Edward Arnold; 2002:376–386.
Hardwig P, Robertson DM. von Hippel–Lindau disease: A familial, often lethal, multisystem phakomatosis. Ophthalmology. 1984;91:263–270.
Haverkamp F, Zerres K, Ostertun B, et al. Familial schizencephaly: further delineation of a rare disorder. J Med Genet. 1995;32:242–244.
He M-S, Yen P-S, Chu S-Y, et al. Relapsing reversible posterior leukoencephalopathy syndrome. Eye. 2006;20:1397–1398.
Healey EA, Barnes PD, Jupsky WJ, et al. The prognostic significance of postoperative residual tumor in ependymoma. Neurosurgery. 1991;28:666–671.
Heidenreich R, Natowicz M, Hainline BE, et al. Acute extrapyramidal syndrome in methymalonic academia: “Metabolic stroke” involving the globus pallidus. J Pediatr. 1988;113:1022–1027.
Hered RW. Tuberous sclerosis. Arch Ophthalmol. 1992;110:410.
Herman DC, Bartley GB, Bullock JD. Ophthalmic findings of hydranencephaly. J Pediatr Opthalmol Strabismus. 1988;25:106-111
Herskowitz J, Rosman P, Wheeler CB. Colpocephaly: Clinical, radiologic, and pathogenetic aspects. Neurology. 1985;35:1594–1598.
Hertle RW, Quinn GE, Katowitz JA. Ocular and adnexal findings in patients with facial microsomias. Ophthalmology. 1992;99:114–119.
Heuer GG, Jackson EM, Magge SN, et al. Surgical management of pediatric brain tumors. Expert Rev Anticancer Ther. 2007;7:561–568.
Heyer GL, Millar WS, Ghatan S, et al. The neurologic aspects of PHACE: Case report and review of the literature. Pediatr Neurol. 2006;35:419–423.
Hinchey J, Chaves C, Appignani B, et al. A reversible posterior leukoencephalopathy syndrome. N Engl J Med. 1996;334:494–500.
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.
Hinsdale: Central Brain Tumor Registry of the US, 2005.
Hodozuka A, Tsuda H, Hashizume K, et al. Focal cortical dysplasia: Pathophysiological approach. Childs Nerv Syst. 2006;22:827–833.
Hoffmann GF, Gibson KM, Trefz FK, et al. Neurologic manifestations of organic acid disorders. Eur J Pediatr. 1994;153(Suppl 1):S94-S100.
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;6:1335–1342.
Hogg JE, Schoenberg DS. Paralysis of divergence in an adult with aqueductal stenosis. Arch Neurol. 1979;36:511–512.
Holmstrom G, Taylor D. Capillary haemangiomas in association with morning glory disc anomaly. Acta Ophthalmol Scand. 1998;76:613–616.
Holschneider AM, Bliesener JA, Abel M. Brain stem dysfunction in Arnold–Chiari II syndrome. Z Kinderchir. 1990;45:67–71.
Hong SE, Shugart YY, Huang DT, et al. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human reelin mutations. Nat Genet. 2000;26:93–96.
Horowitz ME, Mulhern RK, Kun LE, et al. Brain tumors in the very young child. Cancer. 1988;61:428–434.
Horton JC, Harsh GR IV, Fisher JW, et al. Von Hippel–Lindau disease and erythrocytosis: Radioimmunoassay of erythropoietin in cyst fluid from a brainstem hemangioblastoma. Neurology. 1991;41:753–754.
Houser OW, Gomez MR. CT and MR imaging of intracranial tuberous sclerosis. J Dermatol. 1992;19:904–908.
Hoyt WF. Congenital homonymous hemianopia. Neuroophthalmol Jpn. 1985;2:252–260.
Hoyt CS. Delayed visual maturation. J AAPOS. 2004;8:215–219.
Hoyt CS, Billson FA. Buphthalmos in neurofibromatosis: Is it an expression of regional giantism? J Pediatr Ophthalmol Strabismus. 1977;14:228–234.
Hoyt CS, Fredrick DR. Serious neurologic disease presenting as comitant esotropia. In: Rosenbaum AL, Santiago AP, eds. Clinical Strabismus Management. Principles and Surgical Techniques. Philadelphia: W.B. Saunders; 1999:152–158.
Humphreys RP. Vascular malformations of the brain. In: Check WR, ed. Pediatric Neurosurgery: Surgery of the Pediatric Nervous System. Philadelphia: WB Saunders; 1994:524–532.
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;25:277–285.
Huson SM, Harper PS, Compston DA. Von Recklinghausen neurofibromatosis: Clinical and population study in South East Wales. Brain. 1988;111:55–81.
Huson SM, Harper PS, Hourihan MD, et al. Cerebellar haemangioblastoma and von Hippel–Lindau disease. Brain. 1986;109:1297–1310.
Hyman SL, Shores A, North KN. The nature and frequency of cognitive deficits in children with neurofibromatosis type 1. Neurology. 2005;65:1037–1044.
Iannaccone A, McCluney RA, Brewer VR, et al. Visual evoked potentials in children with neurofibromatosis type I. Doc Ophthlamol. 2002;105:63–81.
Ide C, De Coene B, Gilliard C, et al. Hemorrhagic arachnoid cyst with third nerve paresis: CT and MR findings. Am J Neuroradiol. 1997;18:1407–1410.
Iijima K, Murakami F, Nakamura K, et al. Hemostatic studies in patients with carbohydrate-deficient glycoprotein syndrome. Thromb Res. 1994;76:193–198.
Imes RK, Hoyt WF. Magnetic resonance imaging signs of optic nerve gliomas in neurofibromatosis 1. Am J Ophthalmol. 1991;111:729–734.
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-I32.
Into 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;13:485–488.
Isaacs HI. Perinatal brain tumors: A review of 250 cases. Pediatr Neurol. 2002;27:249–261.
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;39:55-57
Iteiskanen O, Vilkki J. Intracranial arterial aneurysms in children and adolescents. Acta Neurochir (Wien). 1981;59:55–63.
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):1513–1519.
Iwach AG, Hoskins HD, Hetherington A, et al. Analysis of surgical and medical management of glaucoma in Sturge–Weber syndrome. Ophthalmology. 1990;97:904–909.
Jackson IT, Carbonnel A, Potparic Z. Orbitotemporal neurofibromatosis: Classification and treatment. Plast Reconstr Surg. 1993;92:1–11.
Jacobson LK, Dutton GN. Periventricular leukomalacia: An important cause of visual and ocular motility dysfunction in children. Surv Ophthalmol. 2000;45:1–13.
Jacoby LB, MacCollin M, Barone R, et al. Frequency and distribution of NF2 mutations in schwannomas. Genes Chromosomes Cancer. 1996;17:45–55.
Jallo G. Brainstem gliomas. Childs Nerv Syst. 2006;22:1–2.
James HE, Nowak TP. Clinical course and diagnosis of migraine headaches in hydrocephalic children. Pediatr Neurosurg. 1992;17:310-316. Discussion.
Jamjoom AB, Malabarey T, Jamjoom JA, et al. Cerebrovasculopathy and malignancy: Catastrophic complications of radiotherapy for optic nerve glioma in a von Recklinghausen neurofibromatosis patient. Neurosurg Rev. 1996;19:47–51.
Janotka H, Huczynska B, Szczudrawa J. Buphthalmos without glaucoma in Recklinghausen’s neurofibromatosis. Klin Monatsbl Augenheilkd. 1972;161:301–305.
Jansen FE, Notenboom RG, Nellist M, et al. Differential localization of hamarin and tuberin and increased S6 phosphorylation in a tuber. Neurology. 2004;63:1293–1295.
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;66:277–285.
Jenkins PF. Chiari malformation. Am Orthopt J. 2005;55:48–51.
Jennings MT, Frenchman M, Shehab T, et al. Gliomatosis cerebri presenting as intractable epilepsy during early childhood. J Child Neurol. 1995;10:37–45.
Jennings MT, Gelman R, Hochberg F. Intracranial germ cell tumors: Natural history and pathogenesis. J Neurosurg. 1985;63:155–167.
Jereb B, Zupancic N, Petric J. Intracranial germinomas: Report of seven cases. Pediatr Hematol Oncol. 1990;7:183–188.
Jesberg DO, Spencer WH, Hoyt WF. Incipient lesions of von Hippel–Lindau disease. Arch Ophthalmol. 1968;80:632–640.
Johannessen CM, Reczek EE, James MR, et al. The NF1 tumor suppressor critically regulates TSC2 and MTOR. Proc Natl Acad Sci USA. 2005;102:8573–8578.
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;140:417–428.
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;64:1305–1315.
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;65:121–124.
Kahlen WG, Maher ER. The VHL tumor-suppressor gene paradigm. Trends Genet. 1998;14:423–426.
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;107:541–544.
Kalidas K, Behrouz R. Inherited metabolic disorders and cerebral infarction. Expert Rev Neurother. 2008;11:1731–1741.
Kalina KB, Woldenberg R. Burkitt’s lymphoma of the skull base presenting as cavernous sinus syndrome in early childhood. Pediatr Radiol. 1996;26:416–417.
Kan P, Liu JK, Hedlund G, et al. The role of diffusion-weighted magnetic resonance imaging in pediatric brain tumors. Childs Nerv Syst. 2006;22:1435–1439.
Kandt RS. Tuberous sclerosis: The next step. J Child Neurol. 1993;8:107–111.
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.
Kanter WR, Eldridge R, Fabricant R, et al. Central neurofibromatosis with bilateral acoustic neuroma: Genetic, clinical and biochemical distinctions from peripheral neurofibromatosis. Neurology. 1980;30:851–859.
Karadimas P, Hatzispasou E, Bouzas EA. Retinal vascular abnormalities in neurofibromatosis type 1. J Neuroophthalmol. 2003;23:274–275.
Karch SB, Urich H. Occipital encephalocele: A morphological study. J Neurol Sci. 1972;15:89–112.
Karp LA, Zimmerman LE, Borit A, et al. Primary intraorbital meningiomas. Arch Ophthalmol. 1974;91:24–28.
Kashii S, Solomon SK, Moser FG, et al. Progressive visual field defects in patients with intracranial arteriovenous malformations. Am J Ophthalmol. 1990;109:556–562.
Katz SE, Rootman J, Vangveeravon S, et al. Combined venous lymphatic malformations of the orbit (so-called lymphangiomas). Ophthalmology. 1998;105:176–184.
Katz DM, Trobe JD, Muraszko KM, et al. Shunt failure without ventriculomegaly proclaimed by ophthalmic findings. J Neurosurg. 1994;81:721–725.
Katz B, Wiley CA, Lee VW. Optic nerve hypoplasia and the syndrome of nevus sebaceous of Jadassohn. Ophthalmology. 1987;94:1570–1576.
Kaufman B. The Empty Sella Turcica: A manifestation of the intrasellar subarachnoid space. Radiology. 1968;90:931–941.
Kaufman LM, Doroftei O. Optic glioma warranting treatment in children. Eye. 2006;20:1149–1164.
Kaye LD, Rothner AD, Beauchamp GR, et al. Ocular findings associated with neurofibromatosis type 2. Ophthalmology. 1992;99:1424–1429.
Keane JR. Pretectal pseudobobbing. Five patients with “V”-pattern convergence nystagmus. Arch Neurol. 1985;42:592–594.
Kedar S, Zhang XX, Lynn MJ, et al. Pediatric homonymous hemianopia. J AAPOS. 2006;10:249–252.
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.
Kendall B, Kingsley D, Lambert SR, et al. Joubert syndrome: A clinical-radiological study. Neuroradiology. 1990;31:502–506.
Kestle J, Townsend JJ, Brockmeyer DL, et al. Juvenile pilocytic astrocytoma of the brainstem in children. J Neurosurg. 2004;101:1–6.
Khalaf SS, Tareef RB. Walker–Warburg syndrome. J AAPOS. 2006;10:486–488.
Khan AO, Oystreck DT, Koenig M, et al. Ophthalmic features of ataxia telangiectasia like disorder. J AAPOS. 2008;12(2):186–189.
Kikuchi T, Fujisawa I, Momoi T, et al. Hypopituitarism and stalk agenesis: A congenital syndrome worsed by breech delivery? Horm Res. 1991;35:104–108.
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;13:147–150.
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.
Kim JS, Park S-H, Lee K-W. Spasmus nutans and congenital ocular motor apraxia with cerebellar vermian hypoplasia. Arch Neurol. 2003;60:1621–1624.
Kim DG, Yang HJ, Park IA, et al. Gliomatosis cerebri: Clincial features, treatment, and prognosis. Acta Neurochir. 1998;140:755–762.
Kirath H, Bozkurt B, Mocan C. Peripapillary staphyloma associated with orofacial hemangioma. Ophthalmic Genet. 2001;22:249–253.
Kleihues P, Burger PC, Scheithauer BW, et al. The new WHO classification of brain tumours. Brain Pathol. 1993;3:255–268.
Kleinschmidt-DeMasters BK, Lillehei KO, Stears JC. The pathologic, surgical, and MR spectrum of Rathke cleft cysts. Surg Neurol. 1995;44:19–27.
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;24:283–285.
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;77:228–233.
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.
Knudson AG Jr. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA. 1971;68:820–823.
Kodsi SR, Bloom KE, Egbert JE, et al. Ocular and systemic manifestations of encephalocraniocutaneous lipomatosis. Am J Ophthalmol. 1994;118:77–82.
Kojima N, Tamaki N, Hosoda K, et al. Visual field defects in hydrocephalus. No To Shinkei. 1985;37:229–236.
Kondo K, Kaelin WG. The von-Hippel–Lindau tumor suppressor gene. Exp Cell Res. 2001;264:117–125.
Kono R, Hasebe S, Ohtsuri H, et al. Impaired vertical phoria adaptation in patients with cerebellar dysfunction. Invest Ophthalmol Vis Sci. 2002;43:673–678.
Korf BR. Plexiform neurofibromas. Am J Med Genet. 1999;89:31–37.
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;1:136–140.
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):227–230.
Korshunov A, Neben K, Wrobel G, et al. Gene expression patterns in ependymomas correlate with tumor location, grade, and patient. Am J Pathol. 2003;163:1721–1727.
Kosmorsky GS. Hydrocephalus: An overview. Proceedings of the North American Neuro-Ophthalmology Society. Orlando, FL, March 27-April 1, 2004:295–302.
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.
Krab LC, Aarsen FK, de Goede-Bolder A, et al. Impact of neurofibromatosis type 1 on school performance. J Child Neurol. 2008;23:1002–1010.
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;300:287–294.
Kresk P, Maton B, Korman B, et al. Different features of histopathological subtypes of pediatric focal cortical dysplasia. Ann Neurol. 2008;63:758–769.
Kroll AS, Reiken PD, Robb RM, et al. Vitreous hemorrhage complicating retinal astrocytic hamartoma. Surv Ophthalmol. 1981;26:31–38.
Kuban KC, Teele RL, Wallman J. Septo-optic-dysplasia-schizencephaly. Radiographic and clinical features. Pediatr Radiol. 1989;19:145–150.
Kulkantrakorn K, Awwad EE, Levy B, et al. MRI in Lhermitte-Duclos disease. Neurology. 1997;48:725–731.
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;2:211–214.
Kumar R, Jain MK, Chhabra DK. Dandy–Walker syndrome: Different modalities of treatment and outcome in 42 cases. Childs Nerv Syst. 2001;17:348–352.
Kun LE, Kovnar EH, Sanford RA. Ependymomas in children. Pediatr Neurosci. 1988;14:57–63.
Kupersmith MJ, Vargas M, Hoyt WF, et al. Optic tract atrophy with cerebral arteriovenous malformations. Direct and transsynaptic degeneration. Neurology. 1994;44:80–83.
Kuroiwa T, Okabe B, Hasuo K, et al. MR imaging of pituitary dwarfism. Am J Neuroradiol. 1991;12:155.
Kurschel S, Maier R, Gellner V, et al. Chiari I malformation and intra-cranial hypertension: A case-based review. Childs Nerv Syst. 2007;23:901–905.
Kuzniecky R. Familial diffuse cortical dysplasia. Arch Neurol. 1994;51:307–310.
Kuzniecky RI, Jackson GD. Magnetic Resonance in Epilepsy. 2nd ed. Burlington: Elsevier; 2005.
Kwiatkowski DJ. Tuberous sclerosis: From tubers to mTOR. Ann Hum Genet. 2003;67:87–96.
Kwon S, Koo J, Lee S. Clinical spectrum of reversible posterior leukoencephalopathy syndrome. Pediatr Neurol. 2001;24:361–364.
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;78:101–111.
Lallier TE. Cell lineage and cell migration in the neural crest. Ann NY Acad Sci. 1991;615:158–171.
Lamas E, Lobato RD, Esparza J, et al. Dural posterior fossa AVM producing raised sagittal sinus pressure. J Neurosurg. 1977;46:804–810.
Lambert HM, Sipperley JO, Shore JW, et al. Linear sebaceous nevus syndrome. Ophthalmology. 1987;94:278–283.
Landau K, Dossetor FM, Hoyt WF, et al. Retinal hamartoma in neurofibromatosis 2. Arch Ophthalmol. 1990;108:328–329.
Landau K, Gloor BP. Therapy-resistant papilledema in achondroplasia. J Neuroophthalmol. 1994;14:24–28.
Landau K, Yasargil GM. Ocular fundus in neurofibromatosis type 2. Br J Ophthalmol. 1993;77:646–649.
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;18:304–310.
Larson DA, Wara WM, Edwards MS. Management of childhood cerebellar astrocytoma. Int J Radiat Oncol Biol Phys. 1989;18:971–973.
Lee HB, Garrity JA, Cameron JD, et al. Primary optic nerve sheath meningioma in children. Surv Ophthalmol. 2008;53(6):543–558.
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;149:573–580.
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;27:2103–2119.
Lee AG, Quick SJ. A childhood cavernous conundrum. Surv Ophthalmol. 2004;49:231–236.
Lee AG, Sforza PD, Fard AK, et al. Pituitary adenoma in children. J Neuroophthalmol. 1998;18:102–105.
Lee M-J, Stephenson DA. Recent developments in neurofibromatosis type 1. Curr Opin Neurol. 2007;20:135–141.
Legido A, Packer RJ, Sutton LN, et al. Suprasellar germinomas in childhood. Cancer. 1989;63:340–344.
Leiba H, Landau K. Cavernous sinus lesions in children-a management challenge. Proceedings of the North American Neuro-Ophthalmology Society. Orlando, FL, March 8-13, 2008.
Leigh RJ, Mapstone T, Weymann C. Eye movements in children with the Dandy–Walker syndrome. Neuroophthalmology. 1992;12:285–288.
Leigh RJ, Zee DS. Neurology of Eye Movements. 4th ed. New York: Oxford University Press; 2006:609.
Lennerstrand G, Gallo JE. Neuro-ophthalmological evaluation of patients with myelomeningocele and Arnold–Chiari malformations. Dev Med Child Neurol. 1990;32:415–422.
Lennerstrand G, Gallo JE, Samuelsson L. Neuro-ophthalmological findings in relation to CNS lesions in patients with myelomeningocele. Dev Med Child Neurol. 1990;32:423–431.
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;67:1509–1512.
Lerone M, Pessagno A, Taccone A, et al. Oculocerebral syndrome with hypopigmentation (Cross syndrome): Report of a new case. Clin Genet. 1992;41:87–89.
Lesser RL, Geehr RB, Higgins DD, et al. Ocular motor paralysis and arachnoid cyst. Arch Ophthalmol. 1980;98:1993–1995.
Leventer RJ, Guerrini R, Dobyns WB. Malformations of cortical development and epilepsy. Dialogues Clin Neurosci. 2008;10:47–62.
Levine TM, Materek A, Abel J, et al. Cognitive profile of neurofibromatosis type 1. Semin Pediatr Neurol. 2006;13:8–20.
Lewis RA, Gerson LP, Axelson KA, et al. von Recklinghausen neurofibromatosis. II: Incidence of optic gliomata. Ophthalmology. 1984;91:929.
Lewis AR, Kline LB, Sharpe JA. Acquired esotropia due to Arnold–Chiari malformation. J Neuroophthalmol. 1996;16:49–54.
Lewis RA, Riccardi VM. von Recklinhausen neurofibromatosis: Incidence of iris hamartomata. Ophthalmology. 1981;88:348.
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;15:1961–1967.
Listernick R, Charrow J, Greenwald MJ, et al. Optic gliomas in children with neurofibromatosis type I. J Pediatr. 1989;114:788.
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;125:63–66.
Listernick R, Charrow J, Gutmann DH. Intracranial gliomas in neurofibromatosis type 1. Am J Med Genet. 1999;89:38–44.
Listernick R, Charrow J, Tomita T, et al. Carboplatin therapy for optic pathway tumors in children with neurofibromatosis type-1. J Neurooncol. 1999;45:185–190.
Listernick R, Ferner RE, Liu GT, Gutmann DH. Optic pathway gliomas in neurofibromatosis-1: Controversies and recommendations. Ann Neurol. 2007;61:189–198.
Littman P, Jarrett P, Bilaniuk LT, et al. Pediatric brain stem gliomas. Cancer. 1980;45:2787–2792.
Liu GT. Visual loss in childhood. Surv Ophthalmol. 2001;46:35–42.
Liu GT, Brodsky MC, Phillips PC, et al. Optic radiation involvement in optic pathway gliomas in neurofibromatosis. Am J Ophthalmol. 2004;137:407–414.
Liu GT, Galletta SL. Homonymous hemifield loss in childhood. Neurology. 1997;49:1748–1749.
Liu GT, Phillips PC, Molloy P, et al. Visual impairment associated with mutism after posterior fossa surgery in children. Neurosurgery. 1998;42:253–256.
Loggers HE, Oosterwijk JC, Overweg-Plandsoen WC, et al. Encephalocraniocutaneous lipomatosis and oculocerebrocutaneous syndrome. Ophthalmic Paediatr Genet. 1992;13:171–177.
Lopponen H, Sorri M, Serlo W, et al. ENG findings of shunt-treated hydrocephalus in children. Int J Pediatr Otorhinolaryngol. 1992;23:35–44.
Lott IT, Richardson EP Jr. Neuropathological findings and the biology of neurofibromatosis. Adv Neurol. 1981;29:23–32.
Lowenstein DH, Koch TK, Edwards MS. Cerebral ptosis with contralateral arteriovenous malformation: A report of two cases. Ann Neurol. 1987;21:404–407.
Luat AF, Makki M, Chugani HT. Neuroimaging in tuberous sclerosis complex. Curr Opin Neurol. 2007;20:142–150.
Lubs M-LE, Bauer M, Formas ME, et al. Iris hamartomas in the diagnosis of neurofibromatosis-1. Int Pediatr. 1990;5:261.
Lubs M-LE, Bauer M, Formas ME, et al. Lisch nodules in neurofibromatosis type I. N Engl J Med. 1991;324:1264.
Luciano M. The treatment of neuro-hydrodynamic disorders: Indications and methods. Proceedings of the North American Neuro-Ophthalmology Society. Orlando, FL, March 27-April 1, 2004.
Ludwig B, Brand M, Brockerhoff P. Postpartum CT examination of the heads of full term infants. Neuroradiology. 1980;20:145–154.
Lueder GT, Doll JT. Pseudopapilledema in neurofibromatosis type 2. Am J Ophthalmol. 2000;129:405–407.
Luessenhop AJ. Natural history of cerebral arteriovenous malformations. In: Wilson CB, Stein BM, eds. Intracranial Arteriovenous Malformations. Baltimore: Williams & Wilkins; 1984:13–23.
Lunsford LD, Kondziolka D, Flickinger JC, et al. Stereotactic radiosurgery for arteriovenous malformations of the brain. J Neurosurg. 1991;75:512.
Lyons MK, Kelly PJ. Posterior fossa ependymomas: Report of 30 cases and review of the literature. Neurosurgery. 1991;28:659–665.
Madhusudan S, Deplanque G, Braybrooke JP, et al. Antiangiogenic therapy for von Hippel–Lindau disease. JAMA. 2004;291:943–944.
Maghnie M, Larizza D, Triulzi F, et al. Hypopituitarism and stalk agenesis: A congenital syndrome worsened by breech delivery? Horm Res. 1991;35:104–108.
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;33:328–332.
Maher ER, Yates JR, Harries R, et al. Clinical features and natural history of von Hippel–Lindau disease. Q J Med. 1990;66:233.
Maitland CG, Abiko S, Hoyt WF, et al. Chiasmal apoplexy: Report of four cases. J Neurosurg. 1982;56:118–122.
Malik S, Cohen BH, Robinson J, et al. Progressive vision loss: A rare manifestation of familial cavernous angiomas. Arch Neurol. 1992;49:170–173.
Malzone WF, Gonyea EF. Exophthalmos with intracerebral arteriovenous malformations. Neurology. 1973;23:534–538.
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;10:239–243.
Mansour AM, Wang F, Henkind P, et al. Ocular findings in the facioauriculovertebral sequence (Goldenhar-Gorlin syndrome). Am J Ophthalmol. 1985;100:555–559.
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;61:374–379.
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;19:111–118.
Margolis S, Aleksic S, Charles N, et al. Retinal and optic nerve findings in the Goldenhar-Gorlin syndrome. Ophthalmology. 1984;91:1327.
Maria BL. Neurobiology of central nervous system tumors in children. J Child Neurol. 2008;23:1011–1102.
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;16:751–758.
Maria BL, Rehder KK, Eskin TA, et al. Brain stem glioma. I: Pathology, clinical features and therapy. J Child Neurol. 1993;8:112–128.
Martinez-Lage JF, Poza M, Costa TR. Bilateral temporal arachnoid cysts in neurofibromatosis. J Child Neurol. 1993;8:383–385.
Martyn LJ, Knox DL. Glial hamartoma of the retina in generalized neurofibromatosis, von Recklinghausen’s disease. Br J Ophthalmol. 1972;56:487–491.
Massimino M, Sprafixo F, Cefalo G, et al. High response rate to cisplain-etoposide regimen in childhood low-grade gliomas: Follow-up of 54 patients. Ophthalmology. 2004;111:568–577.
Matsubara O, Tanaka M, Ida T, et al. Hemimegalencephaly with hemihypertrophy (Klippel–Trenauney–Weber syndrome). Virchows Arch A Pathol Anat Histopathol. 1983;400:155–162.
Matzkin DC, Slamovits TL, Jenis I, et al. Disc swelling: A tall tale? Surv Ophthalmol. 1992;37:130–136.
Mautner VF, Tatagiba M, Guthoff R, et al. Neurofibromatosis-2 in the pediatric age group. Neurosurgery. 1993;33:92–96.
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;165:951–955.
McAvoy CE, Best R, Sharkey JA, et al. Symptomatic arachnoid cyst presenting as a sixth nerve palsy. Eye. 2001;15:548–550.
McFadzean RM. The empty sella syndrome. A review of 14 cases. Trans Ophthalmol Soc UK. 1983;103:537–542.
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.
McLaughlin ME, Pepin SM, MacCollin M, et al. Ocular pathologic features of neurofibromatosis type 2. Arch Ophthalmol. 2007;125:389–394.
McLone DG, Knepper PA. The cause of Chiari II malformation: A unified theory. Pediatr Neurosurg. 1989;15:1–12.
Mealey J Jr, Dzenitis AJ, Hockey AA. The prognosis of encephaloceles. J Neurosurg. 1970;32:209–218.
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;137:908–913.
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.
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;22:3156–3162.
Mercuri S, Russo A, Palma L. Hemispheric supratentorial astrocytomas in children. Long-term results in 29 cases. J Neurosurg. 1981;55:170–173.
Merello E, Swanson E, De Marco P, et al. No major role for the EMX2 gene in schizencephaly. Am J Med Genet. 2008;146A:1142–1150.
Metry DW, Dowd CF, Barkovich AJ, et al. The many faces of PHACE syndrome. J Pediatr. 2001;139:117–123.
Meyer DR, Nerad JA, Newman NJ, et al. Bilateral enophthalmos associated with hydrocephalus and ventriculoperitoneal shunting. Arch Ophthalmol. 1996;114:1206–1209.
Meyerle CB, Dahr SS, Wetjen NM, et al. Clinical course of retrobulbar hemangioblastomas in von Hippel–Lindau disease. Ophthalmology. 2008;115:1382–1389.
Meyers SP, Kemp SS, Tarr RW. MR imaging features of medulloblastomas. AJR Am J Roentgenol. 1992;158:859–865.
Midha R, Jay V, Smyth HS. Transsphenoidal management of Rathke’s cleft cysts: A clinicopathological review of 10 cases. Surg Neurol. 1991;35:446–454.
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;22:124–128.
Milder DG, Reinecke RD. Phoria adaptation to prisms. A cerebellar dependent process. Arch Neurol. 1983;40:339–342.
Miller NR. Solitary oculomotor nerve palsy in childhood. Am J Ophthalmol. 1977;83:106–111.
Miller JH. Radiological evaluation of sellar lesions. Crit Rev Diagn Imaging. 1981;16:311–347.
Miller NR. Walsh and Hoyt’s Clinical Neuro-Ophthalmology, vol. 1. Baltimore: Williams & Wilkins; 1982:197.
Miller NR. Walsh and Hoyt’s Clinical Neuro-Ophthalmology, vol. 3. 4th ed. Baltimore: Williams & Wilkins; 1988:1747–1765.
Miller NR. Walsh and Hoyt’s Clinical Neuro-Ophthalmology, vol. 3. Baltimore: Williams & Wilkins; 1991:1516.
Miller GM, Stears JC, Guggenheim MA, et al. Schizencepahly: A clinical and CT study. Neurology. 1984;34:997–1001.
Mills RP. CT-negative astrocytoma simulating pseudotumor cerebri. Neuroopthalmology. 1981;1:231–233.
Minakawa T, Tanaka R, Koike T, et al. Angiographic follow-up study of cerebral arteriovenous malformations with reference to their enlargement and regression. Neurosurgery. 1989;24:68–74.
Mitchell TN, Free SL, Williamson KA, et al. Polymicrogyria and absence of pineal gland due to PAX6 mutation. Ann Neurol. 2003;53:658–663.
Mitsias P, Levine SR. Cerebrovascular complications of Fabry’s disease. Ann Neurol. 1996;40:106–114.
Miyamoto S, Kikuchi H, Karasawa J, et al. Study of the posterior circulation in Moyamoya disease. Part 2: Visual disturbances and surgical treatment. J Neurosurg. 1986;65:454–460.
Mizrachi IB-B, Trobe JD, Gebarski SS, et al. Papilledema in the assessment of ventriculomegaly. J Neuroophthalmol. 2006;26:260–263.
Moadel K, Yannuzzi LA, Ho AC, et al. Retinal vascular occlusive disease in a child with neurofibromatosis. Arch Ophthalmol. 1994;112:1021–1023.
Mohandessan MM, Romano PE. Neuroparalytic keratitis in Goldenhar-Gorlin syndrome. Am J Ophthalmol. 1978;85:111.
Mohr JP. Neurological manifestations and factors related to therapeutic decisions. In: Wilson CB, Stein BM, eds. Intracranial Arteriovenous Malformations. Baltimore: Williams & Wilkins; 1984:1–11.
Molloy PT, Bilaniuk LT, Vaughan SN, et al. Brainstem tumors in patients with neurofibromatosis type 1: A distinct clinical entity. Neurology. 1995;45:1897–1902.
Monahan RH, Hill CS, Venters JD. Multiple choristomas, convulsions and mental retardation as a new neurocutaneous syndrome. Am J Ophthalmol. 1967;63:529–532.
Morales J, Chaudry IA, Bosley TM. Glaucoma and globe enlargement associated with neurofibromatosis type 1. Ophthalmol. 2009;116:1725–1730.
Morgan SA, Emsellem HA, Sandler JR. Absence of the septum pellucidum: Overlapping clinical syndromes. Arch Neurol. 1985;42:769–770.
Mori K, Murata T, Hasimoto N, et al. Clinical analysis of arteriovenous malformations in children. Childs Brain. 1980;6:13.
Morrison H, Sherman LS, Legg J, et al. The NF2 tumour suppressor gene product, merlin, mediates contact inhibition of growth through interactions with CD44. Genes Dev. 2001;15:968–980.
Mossman SS, Bronstein AM, Gresty MA, et al. Convergence nystagmus associated with Arnold–Chiari malformation. Arch Neurol. 1990;47:357–359.
Motzer RJ, Hutson TE, Tomczak P, et al. Sunitinib versus interferon alfa in metastatic renal-cell carcinoma. N Engl J Med. 2007;356:115–124.
Muci-Mendoza R, Ramella M, Fuenmayor-Rivera D. Corkscrew retinal vessels in neurofibromatosis type 1: Report of 12 cases. Br J Ophthalmol. 2002;86:282–284.
Murphy MJ, Risk WS, VanGilder JC. Intracranial dermoid cyst in Goldenhar syndrome. J Neurosurg. 1980;53:408–410.
Murray JC, Johnson JA, Bird TD. Dandy–Walker malformation: Etiologic heterogeneity and empiric recurrence rates. Clin Genet. 1985;28:272–283.
Nabi NU, Mezer E, Blaser SI, et al. Ocular findings in lissencephaly. J AAPOS. 2003;7:178–184.
Naidich TP, Altman NR, Barffman BH, et al. Cephaloceles and related malformations. AJNR Am J Neuroradiol. 1992;13:655–690.
Natawicz M, Kelley RI. Mendelian etiologies of stroke. Ann Neurol. 1987;22:175–192.
National Institutes of Health Consensus Development Conference. Neurofibromatosis: Conference Statement. Arch Neurol. 1988;45:575–578.
Nazir S, O’Brien M, Qureshi NH, et al. Sensitivity of papilledema as a sign of shunt failure. J AAPOS. 2009;13:63–66.
Neumann HP, Berger DP, Sigmund G, et al. Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel–Lindau disease. N Engl J Med. 1993;329:1531–1538.
Neumann HP, Eggert HR, Scheremet R, et al. Central nervous system lesions in von Hippel–Lindau syndrome. J Neurol Neurosurg Psychol. 1992;55:898–901.
Neumann HP, Wiestler OD. Clustering of features of von Hippel–Lindau syndrome: evidence for a complex gene locus. Lancet. 1991;337:1052.
Newman SA. Ophthalmic features of craniosynostosis. Neurosurg Clin North Am. 1991;2:587–610.
Newman NJ. Bilateral visual loss and disc edema in a 15-year-old girl. Surv Ophthalmol. 1994;38:365-370. Clinical Conference.
Nguyen T-N, Polomeno RC, Farmer J-P, et al. Ophthalmic complications of slit-ventricle syndrome in children. Ophthalmology. 2002;109:520–525.
Nishizaki T, Tamaki N, Nishida Y, et al. Bilateral internuclear ophthalmoplegia due to hydrocephalus: A case report. Neurosurgery. 1985;17:822–825.
North K, Hyman S, Barton B. Cognitive deficits in neurofibromatosis type 1. J Child Neurol. 2002;17:605–612.
Nowak TP, James HE. Migraine headaches in hydrocephalic children: A diagnostic dilemma. Childs Nerv Syst. 1989;5:310–314.
O’Connor PS, Smith JL. Optic nerve variant in the Klippel–Trenauney–Weber syndrome. Ann Ophthalmol. 1978;10:131–134.
O’Hare AE, Dutton GN, Green D, et al. Evolution of a form of pure alexia without agraphia in a child sustaining occipital lobe infarction at 2 1/2 years: Alexia without agraphia syndrome in childhood. J Child Neurol. 1998;40:417–420.
Oakes WJ. The natural history of patients with the Sturge–Weber syndrome. Pediatr Neurosurg. 1992;18:287–290.
Obringer AC, Meadows AT, Zackai EH. The diagnosis of neurofibromatosis-1 in the child under the age of 6 years. Am J Dis Child. 1989;143:717–719.
Ochi M, Morikawa M, Yoshimoto M, et al. Growth retardation due to idiopathic growth hormone deficiencies: MR findings in 24 patients. Pediatr Radiol. 1992;22:477–480.
Ogata H, Oka K, Mitsudome A. Hydrocephalus due to acute aqueductal stenosis following mumps infection: Report of a case and review of the literature. Brain Dev. 1992;14:417–419.
Oh S, Rocco CD. Proposal of “evolution theory in cerebrospinal fluid dynamics” and minor pathway hydrocephalus in developing immature brain. Childs Nerv Syst. 2006;22:662–669.
Ohtsuka K, Hashimoto M, Nakamura Y. Bilateral trochlear nerve palsy with arachnoid cyst of the quadrigeminal cistern. Am J Ophthalmol. 1998;125:268–270.
Oka K, Kumate S, Kibe M, et al. Aqueductal stenosis due to mesencephalic venous malformation: Case report. Surg Neurol. 1993;40:230–235.
Okuno T, Prensky AL, Gado M. The Moyamoya syndrome associated with irradiation of optic glioma in children: Report of two cases and review of the literature. Pediatr Neurol. 1985;1:311–316.
Oleszczynska-Prost E, Tarantowicz-Mazurek D, Tarantowicz W, et al. Abducent nerve palsy as the only symptom of intracavernous aneurysm in a child. Klin Oczna. 1996;98:451–454.
Ondra SL, Troupp H, George ED, et al. The natural history of symptomatic arteriovenous malformations of the brain: A 24-year follow-up assessment. J Neurosurg. 1990;73:387–391.
Ophoff RA, DeYoung J, Service SK, et al. Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3. Am J Hum Genet. 2001;69(22):447–553.
Orcutt JC, Bunt AH. Anomalous optic disc in a patient with a Dandy–Walker cyst. J Clin Neuroophthalmol. 1986;2:42–43.
Ortiz-Suarez H, Erickson DL. Pituitary adenomas in adolescents. J Neurosurg. 1978;43:437–439.
Osenbach RK, Menezes AH. Diagnosis and management of the Dandy–Walker malformation: 30 years of experience. Pediatr Neurosurg. 1992;18:179–189.
Osher RH, Corbett JJ, Schatz NJ, et al. Neuro-ophthalmological complications of enlargement of the third ventricle. Br J Ophthalmol. 1978;62:536–542.
Ozonoff S. Cognitive impairment in neurofibromatosis type 1. Am J Med Genet. 1996;89:45–52.
Packer RJ. Childhood brain tumors: Accomplishments and ongoing challenges. J Child Neurol. 2008;23:1122–1127.
Packer RJ, Ater J, Allen J, et al. Carboplatin and vincristine chemotherapy for children with newly diagnosed progressive low-grade gliomas. J Neurosurg. 1997;86:747–754.
Packer RJ, Bilaniuk LT, Cohen BH, et al. Intracranial visual pathway gliomas in children with neurofibromatosis. Neurofibromatosis. 1988;1:212–222.
Packer RJ, Nicholson HS, Vezine LG, et al. Brain stem gliomas. In: Berger MS, ed. Pediatric Neuro-Oncology, Neurosurgery Clinics of North America. Philadelphia: WB Saunders; 1992:863–879.
Palmini A, Lüders HO. Classification issues in malformations caused by abnormalities of cortical development. Neurosurg Clin North Am. 2002;37:1–16.
Palmini A, Najm I, Avanzini G, et al. Terminology and classification of the cortical dysplasias. Neurology. 2004;62:S2-S8.
Pandey PK, Dadeya S, Amar A, et al. Acquired isolated unilateral fourth nerve palsy after ventriculoperitoneal shunt surgery. J AAPOS. 2008;12:618–620.
Papadias A, Taha A, Sgouros S, et al. Incidence of vascular malformations in spontaneous intra-cerebral haemorrhage in children. Childs Nerv Syst. 2007;23:881–886.
Pappas CT, Rekate HL. Cervicomedullary junction decompression in a case of Marshall–Smith syndrome. J Neurosurg. 1991;75:317–319.
Paquier PF, De Smet HJ, Mariën P, et al. Acquired alexia without agraphia syndrome in childhood. J Child Neurol. 2006;21:324–330.
Parazzini C, Triulzi F, Bianchini E, et al. Spontaneous involution of optic pathway lesions in neurofibromatosis type 1: Serial contrast MR evaluation. AJNR Am J Neuroradiol. 1995;16:1711–1718.
Parker EC, Teo C, Rahman S, et al. Complete resolution of hypertension after decompression of Chiari I malformation. Skull Base Surg. 2000;10:149–152.
Parmar H, Gandhi D, Mukherji SK, et al. Restricted diffusion in the superior ophthalmic vein and cavernous sinus in a case of cavernous sinus thrombosis. J Neuroophthalmol. 2009;29:16–20.
Parrini E, Ramazzotti A, Dobyns WB, et al. Periventricular heterotopia: Phenotypic heterogeneity correlation with Filamin A mutations. Brain. 2006;129:1892–1906.
Parry DM, Eldridge R, Kaiser-Kupfer MI, et al. Neurofibromatosis type 2 (NF2): Clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Genet. 1994;52:450–461.
Parsa CF: Sturge Weber syndrome: a unified pathophysiologic mechanism. Curr Treat Options Neurol. 2008;10:47–54.
Parsa CF, Givrad S. Juvenile pilocytic astrocytomas do not undergo spontaneous malignant transformation: Grounds for designation as hamartomas. Br J Ophthalmol. 2008;92:40–46.
Parsa CF, Givrad S. Pilocytic astrocytoma as hamartomas: implications for treatment. Br J Ophthalmol. 2008;92:306.
Parsa CS, Hoyt CS, Lesser RL, et al. Spontaneous regression of optic gliomas-thirteen cases documented by serial neuroimaging. Arch Ophthalmol. 2001;119:516–529.
Partap S, Fisher PG. Update on new treatment and developments in childhood brain tumors. Curr Opin Pediatr. 2007;19:670–674.
Pascual-Castroviejo I, Pascual-Pascual SI, Viano J, et al. Unilateral polymicrogyria: a common cause of hemiplegia of prenatal origin. Brain Dev. 2001;23:216–222.
Pascual-Castroviejo I, Roche MC, Fernandez VM, et al. Incontinentia pigmenti: MR demonstration of brain changes. AJNR Am J Neuroradiol. 1994;15:1521–1527.
Pascual-Castroviejo I, Velez A, Pascual-Pascual SI, et al. Dandy–Walker malformation: Analysis of 38 cases. Childs Nerv Syst. 1991;7:88–97.
Passo M, Shults WT, Talbot T, et al. Acquired esotropia: A manifestation of Chiari I malformation. J Clin Neuroophthalmol. 1984;4:151–154.
Patel S, Barkovich AJ. Analysis and classification of cerebellar malformations. Am J Neuroradiol. 2002;23:1074–1087.
Pattisapu JV. Etiology and clinical course of hydrocephalus. Neurosurg Clin North Am. 2001;4:651–659.
Pavlakis SG, Phillips PC, DiMauro S. et al Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome. Ann Neurol. 1984;16:481–488.
Pe’er J, Ilsar M. Epibulbar complex choristoma associated with nevus sebaceus. Arch Ophthalmol. 1995;113:1301–1304.
Pearson-Webb MA, Kaiser-Kupfer MI, Eldridge R. Eye findings in bilateral acoustic (central) neurofibromatosis: association with presenile lens opacities and cataracts but absence of Lisch nodules. N Engl J Med. 1986;315:1553–1554.
Peerless SJ, Nemoto S, Drake CG. Giant intracranial aneurysms in children and adolescents. In: Edwards MS, Hoffman HH, eds. Cerebrovascular Disease in Children and Adolescents. Baltimore: Williams & Wilkins; 1988:255–273.
Phadke JG, Hern J, Blaiklock CT. Downbeat nystagmus: A false localizing sign due to communicating hydrocephalus. J Neurol Neurosurg Psychiatry. 1981;444:459.
Phillips PH, Glasier CM, Brodsky MC. Neuro-ophthalmologic findings in patients with rhombencephalosynapsis. J AAPOS. 2008;12:96–99.
Nazir S, O'Brien M, Qureshi NH, et al: Sensitivity of papilledema as a sign of shunt failure in children. J AAPOS. 2009;13:63–66.
Phillips PH, Spear C, Brodsky MC. Magnetic resonance diagnosis of congenital hypopituitarism in children with optic nerve hypoplasia. J AAPOS. 2001;5:275–280.
Piao X, Basel-Vanagaite L, Straussberg R, et al. An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21. Am J Hum Genet. 2002;70:1028–1033.
Pihko H, Lappi M, Raitta C, et al. Ocular findings in muscle–eye–brain (MEB) disease: A follow-up study. Brain Dev. 1995;17:57–61.
Pokharel D, Siatkowski RM. Progressive cerebellar tonsillar herniation with recurrent divergence insufficiency esotropia. J AAPOS. 2004;8:286–287.
Polizzi A, Pavone P, Iannetti P, et al. Septo-optic dysplasia: A heterogeneous malformation syndrome. Pediatr Neurol. 2006;34:66–71.
Pollack IF. Brain tumors in children. N Engl J Med. 1994;331:1500–1507.
Pollack IF, Mulvihill JJ. Special issues in the management of gliomas in children with neurofibromatosis 1. J Neurooncol. 1996;28:257–268.
Pollack IF, Pang D, Albright AL. The long-term outcome in children with late-onset aqueductal stenosis resulting from benign intrinsic tectal tumors. J Neurosurg. 1994;80:681–688.
Pollack IF, Shultze B, Mulvihill JJ. The management of brainstem gliomas in patients with neurofibromatosis 1. Neurology. 1996;46:1652–1660.
Povey S, Burley MW, Atwood J, et al. Two loci for tuberous sclerosis: One on 9q34 and one on 16p13. Ann Hum Genet. 1994;58:107–127.
Prasad G, Blyth CP, Jeffreys RV. Ophthalmic manifestations of Rathke’s cleft cysts. Am J Ophthalmol. 1995;119:86–91.
Prasad N, Gulati S, Gupta RK, et al. Is reversible posterior leucoencephalopathy with severe hypertension completely reversible in all patients? Pediatr Nephrol. 2003;18:1161–1166.
Prayson R, Khajavi K, Comair Y. Cortical architectural abnormalities and M1B1 immunoreactivity in gangliogliomas: A study of 60 patients with intracranial tumors. J Neuropathol Exp Neurol. 1995;54:513–520.
Price DB, Inglese CM, Jacobs J, et al. Pediatric AIDS. Neuroradiologic and neurodevelopmental findings. Pediatr Radiol. 1988;18:445–448.
Pyhtinen J, Pääkkö E. A difficult diagnosis of gliomatosis cerebri. Neuroradiology. 1996;38:444–448.
Rabinowicz IM. Visual function in children with hydrocephalus. Trans Ophthalmol Soc UK. 1974;94:353–366.
Radkowski MA, Naidich TP, Tomita T, et al. Neonatal brain tumors: CT and MR findings. J Comput Assist Tomogr. 1988;12:10–20.
Rafay MF, Armstrong D, deVeber G, et al. Craniocervical arterial dissection in children: Clinical and radiographic presentation and outcome. J Child Neurol. 2006;21:8–16.
Raffel C, Mccomb JG, Bodner S, et al. Benign brain stem leisons in pediatric patients with neurofibromatosis: Case reports. Neurosurgery. 1989;25:959–964.
Ragge NK. Clinical and genetic patterns in neurofibromatosis 1 and 2. Br J Ophthalmol. 1993;77:662–672.
Ragge NK, Baser ME, Riccardi VM, et al. The ocular presentation of neurofibromatosis 2. Eye. 1997;11:12–18.
Ragge NK, Falk RE, Cohen WE, et al. Images of Lisch nodules across the spectrum. Eye. 1993;7:95–101.
Ragge NK, Hoyt WF. Midbrain myasthenia: Fatigable ptosis, ‘lid twitch’ sign, and ophthalmoparesis from a dorsal midbrain glioma. Neurology. 1992;42:917–919.
Ramaesh K, Stokes J, Henry E, et al. Congenital corneal anesthesia. Surv Ophthalmol. 2007;52:50–60.
Ramondi A. Pediatric Neurosurgery Theoretic Principles and the Art of Surgical Techniques. New York: Springer; 1987.
Rasmussen SA, Yang Q, Friedman JM. Mortality in neurofibromatosis 1: An analysis using U.S. death certificates. Am J Hum Genet. 2001;68:1110–1118.
Rathbun JE, Hoyt WF, Beard C. Surgical management of orbitofrontal varix in Klippel–Trenauney–Weber syndrome. Am J Ophthalmol. 1970;70:109–112.
Raymond AA, Fish DR, Stevens JM, et al. Association of hippocampal sclerosis with cortical dysgenesis in patients with epilepsy. Neurology. 1994;44:1841–1845.
Raynaud C. Destructive lesions of the brain. Neuroradiology. 1983;25:265–291.
Reddy SK, Salgado CM, Hunter DG. Central fusion disruption following irradiation of the pineal gland. Arch Ophthalmol. 2009;127:337–338.
Reeder RF, Saunders RL, Roberts DW, et al. MRI in the diagnosis and treatment of Lhermitte-Duclose disease (dysplastic gangliocytoma of the cerebellum). Neurosurgery. 1988;23:240–245.
Reeve CJP, MP SJR, et al. Molecular genetic advances in tuberous sclerosis. Hum Genet. 2000;107:97–114.
Rekate HL. Classification of slit-ventricle syndromes using intracranial pressure monitoring. Pediatr Neurosurg. 1993;19:15–20.
Rekate H. Treatment of Hydrocephalus: Principles and Practice of Pediatric Neurosurgery. New York: Thieme Medical Publishers; 1999.
Rekate HL. Shunt-related headaches: The slit ventricle syndromes. Childs Nerv Syst. 2008;24:423–430.
Rekate HL. The definition and classification of hydrocephalus: A personal recommendation to stimulate debate. Cerebrospinal Fluid Res. 2008;5:2.
Rekate HL, Erwood S, Brodkey JA, et al. Etiology of ventriculomegaly in choroid plexus papilloma. Pediatr Neurosurg. 1986;12:196–201.
Rengachary SS, Watanabe I. Ultrastructure and pathogenesis of intracranial arachnoid cysts. J Neuropathol Exp Neurol. 1981;40:61–83.
Rettele GA, Brodsky MC, Merin LM, et al. Blindness, deafness, quadriparesis, and a retinal malformation: The ravages of neurofibromatosis 2. Surv Ophthalmol. 1996;41:135–141.
Reulecke BC, Erker CG, Fiedler BJ, et al. Brain tumors in children: Initial symptoms and their influence on the time span between symptom onset and diagnosis. J Child Neurol. 2008;23:178–183.
Rhodes RE, Hatten HP, Ellington KS. Walker–Warburg syndrome. AMJR Am J Neuroradiol. 1992;13:123–126.
Riaz G, Selhorst JB, Hennessey JJ. Meningeal lesions mimicking migraine. Neuroophthalmology. 1991;11:41–48.
Riccardi VM. von Recklinhausen neurofibromatosis. N Engl J Med. 1981;305:1617.
Riccardi VM. Neurofibromatosis: past, present, and future. N Engl J Med. 1991;324:1283.
Riccardi VM. Neurofibromatosis: Phenotype, Natural History and Pathogenesis. Baltimore and London: The Johns Hopkins University Press; 1992.
Riccardi VM, Eichner JE, eds. Neurofibromatosis: Phenotype, Natural History, and Pathogenesis. Baltimore: Johns Hopkins University Press; 1986.
Riccardi VM, Lewis RA. Penetrance of von Recklinghausen neurofibromatosis: A distinction between predecessors and descendants. Am J Hum Genet. 1988;42:284–289.
Richards SC, Bachynski BN. Ophthalmic manifestations of neurofibromatosis type 2. Int Pediatr. 1990;5:270.
Richards A, van den Maagdenberg A, Jen J. C-terminal translocations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet. 2007;29:1068–1070.
Richetta A, Giustini S, Recupero SM, et al. Lisch nodules of the iris in neurofibromatosis type 1. J Eur Acad Dermatol Venereol. 2004;18:342–344.
Richkind KE, Boder E, Teplitz RL. Fetal proteins in ataxia-telangiectasia. JAMA. 1982;248:1346.
Richmond IL, Wilson CB. Pituitary adenomas in childhood and adolescence. J Neurosurg. 1994;80:209–216.
Rickert CH, Paulus W. Epidemiology of central nervous system neoplasms in childhood and adolescence based on the new WHO classification. Childs Nerv Syst. 2001;17:503–511.
Riela AR, Roach S. Etiology of stroke in children. J Child Neurol. 1993;8:201–220.
Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria. J Child Neurol. 1998;13:624–628.
Roach ES, Smith M, Huttenlocher P, et al. Diagnostic criteria-tuberous sclerosis. J Child Neurol. 1992;7:221–224.
Robertson IJ, Leggate JR, Miller JD, et al. Aqueduct stenosis - Presentation and prognosis. Br J Neurosurg. 1990;4:101–106.
Robinson RO. Familial schizencephaly. Dev Med Child Neurol. 1991;33:1010–1014.
Roche JL, Choux M, Czorny A, et al. Intracranial arterial aneurysm in children. A cooperative study. Apropos of 43 cases. Neurochirurgie. 1988;34:243–251.
Roessler E, Muenke M. Holoprosencephaly: A paradigm for the complex genetics of brain development. J Inherit Metab Dis. 1998;21:481–497.
Rollnick BR, Kaye CI, Nagatoshi K, et al. Oculovertebral dysplasia and variants: Phenotypic characteristics of 294 patients. Am J Med Genet. 1987;26:361–375.
Rosenbaum T, Rosenbaum C, Winner U, et al. Long-term culture and characterization of human neurofibroma-derived Schwann cells. J Neurosci Res. 2000;61:524–532.
Rosenberg ML. Congenital trigeminal anaesthesia. A review and classification. Brain. 1984;197:1073–1082.
Rosenberg S, Marie SK, Kliemann S. Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV). Pediatr Neurol. 1994;11:50–56.
Rosenfeld SI, Smith ME. Ocular findings in incontinentia pigmenti. Ophthalmology. 1985;92:543–546.
Roski RA, Roessmann U, Spetzler RF, et al. Clinical and pathological study of dysplastic gangliocytoma. J Neurosurg. 1981;55:318–321.
Ross ME, Swanson K, Dobyns WB. Lissencephaly with cerebellar hypoplasia (LCH): a heterogenous group of cortical malformations. Neuropediatrics. 2001;32:256–263.
Rosser TL, Vezina G, Packer RT. Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1. Neurology. 2005;64:553–555.
Rouleau G, Merel P, Lutchman M, et al. Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2. Nature. 1993;363:515–521.
Rouleau GA, Wertelecki W, Haines JL, et al. Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature. 1987;329:246.
Rozot P, Berrod JP, Bracard S, et al. Stase papillaire et fistule durale. J Fr Ophtalmol. 1991;14:13–19.
Ruggieri V, Caraballo R, Fejerman N. Intracranial tumors and West syndrome. Pediatr Neurol. 1989;5:327–329.
Ruggieri M, Iannetti P, Polizzi A, et al. Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: A study of 24 patients. Neuropediatrics. 2005;36:21–34.
Rust PR, Ashkan K, Ball C, et al. Gliomatosis cerebri: Pitfalls in diagnosis. J Clin Neurosci. 2001;8:361–363.
Rutka JT, Hoffman HJ, Drake JM, et al. Suprasellar and sellar tumors in childhood and adolescence. In: Berger MS, ed. Pediatric Neuro-Oncology. Philadelphia: WB Saunders; 1992:803–820.
Rutkowski JL, Wu K, Gutmann DH, et al. Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1. Hum Mol Genet. 2000;9:1059–1066.
Rydh M, Maim M, Jernbeck J, et al. Ectatic blood vessels in port-wine stains lack innervation: Possible role in pathogenesis. Plast Reconstr Surg. 1991;87:419–421.
Saar K, Al-Gazali L, Sztriha L, et al. Homosygosity mapping in families with Joubert syndrome identifies a locus on chromsome 9q34 and evidence for genetic heterogeneity. Am J Hum Genet. 1999;65:1666–1671.
Saidkasimova S, Bennett DM, Butler S, et al. Cognitive visual impairment with good visual acuity in children with periventricular white matter injury. A series of 7 cases. J AAPOS. 2007;11:426–430.
Sainte-Rose C, LaCombe J, Peirre-Kahn A, et al. Intracranial venous sinus hypertension: Cause or consequence of hydrocephalus in infants? J Neurosurg. 1984;60:727–736.
Saito Y, Ito M, Ozawa Y, et al. Changes of neurotransmitters in the brainstem of patients with respiratory pattern disorders during childhood. Neuropediatrics. 1999;30:133–140.
Salamon N, Andres M, Chute DJ, et al. Contralateral hemimicrencephaly and clinical-pathological correlations in children with hemimegalencephaly. Brain. 2006;129:352–365.
Salman MS, Blaser SE, Sharpe JA, et al. Cerebellar vermis morphology in children with spina bifida and Chiari type II malformation. Childs Nerv Syst. 2006;22:385–393.
Salvin JH, Repka MX, Miller MM. Arachnoid cyst resulting in sixth nerve palsy in a child. J Pediatr Ophthalmol Strabismus. 2007;44:53–54.
Sánchez Pina C, Pascual-Castroviejo I, Martínez Fernández V, et al. Burkitt’s lymphoma presenting as Tolosa-Hunt syndrome. Pediatr Neurol. 1993;9:157–158.
Sandhu A, Kendall B. Computed tomography in management of medulloblastomas. Neuroradiology. 1987;29:444–452.
Santavouri P, Somer H, Sainio K, et al. muscle–eye–brain disease. Brain Dev. 1989;11:147–153.
Santavuori P, Valanne L, Autti T, et al. muscle–eye–brain disease: Clinical features, visual evoked potentials, and brain imaging in 20 patients. Eur J Paediatr Neurol. 1998;1:41–47.
Sardanelli F, Barodi RC, Ottonello C, et al. Cranial MRI in ataxia-telangiectasia. Neuroradiology. 1995;37:77–82.
Sarkari NB, Bickerstaff ER. Relapses and remissions in brain stem tumors. Br Med J. 1969;2:21–23.
Sarwar M. The septum pellucidum: Normal and abnormal. Am J Neuroradiol. 1989;10:989–1005.
Sarwar M, Schafer M. Brain malformation in linear nevus sebaceous syndrome: An MR study. J Comput Assist Tomogr. 1988;12:338–340.
Sato Y, Waziri M, Smith W, et al. Hippel–Lindau disease: MR imaging. Radiology. 1988;166:241–246.
Satran D, Pierpont ME, Dobyns WB. Cerebello-Oculo-Renal syndromes including Arima, Senior Löken, and COACH syndromes: More that just variants of Joubert syndrome. Am J Med Genet. 1999;86:459–469.
Saunders M, Guinane C, MacFarlane M, et al. A diplopia dilemma. Surv Ophthalmol. 2006;51:68–74.
Saylar WR, Saylar DC. The vascular lesions of neurofibromatosis. Angiology. 1974;25:510–519.
Schamndt SM, Packer RJ, Vezina LG, et al. Spontaneous regression of low grade glioma in children with neurofibromatosis-1: A real possibility. J Child Neurol. 1999;14:352–356.
Schatz H, Chang LF, Ober RR, et al. Central retinal vein occlusion associated with arteriovenous malformation. Ophthalmology. 1993;100:24–30.
Scheithauer BW. The neuropathology of tuberous sclerosis. J Dermatol. 1992;19:897–903.
Schijman E, Blumenthal L, Sevilla M, et al. Neuro-ophthalmic complications of intracranial catheters. Neurosurgery. 1994;34:769-770. Letter.
Schmidt D, Pache M, Schumacher M. The congenital unilateral retinocephalic vascular syndrome (Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome). Surv Ophthalmol. 2008;53:227–249.
Schneider JH, Raffel C, McComb JG. Benign cerebellar astrocytomas of childhood. Neurosurgery. 1992;30:58–63.
Schrander-Stumpel CT, De Die-Smulders CE, Hennekam RC, et al. Oculoauriculovertebral spectrum and cerebral anomalies. J Med Genet. 1992;29:326–331.
Schupper A, Kornreich L, Yaniv I, et al. Optic pathway glioma: natural history demonstrated by a new empirical score. Pediatr Neurol. 2009;40:432–436.
Schwartz RA, Fernández G, Kotulska K, et al. Tuberous sclerosis complex: Advances in diagnosis, genetics, and management. J Am Acad Dermatol. 2007;57:189–202.
Sclafani AP, DeDio RM, Hendrix RA. The Chiari-I malformation. Ear Nose Throat J. 1991;70:208–212.
Scott RM, Smith JL, Roberston RL, et al. Long-term outcome in children with moyamoya syndrome after cranial revascularization by pial synangiosis. J Neurosurg Spine. 2004;100:142–149.
Scotting PJ, Thompson SL, Punt JA, et al. Pediatric brain tumours: an embryological perspective. Childs Nerv Syst. 2000;16:261–268.
Scully R, Mark E, McNeely W, et al. Case Records of the Massachusetts General Hospital. Case 39-1998. N Engl J Med. 1998;339:1914–1923.
Seiff SR, Brodsky MC, MacDonald G, et al. Orbital optic glioma in neurofibromatosis: magnetic resonance diagnosis of perineural arachnoidal gliomatosis. Arch Ophthalmol. 1987;105:1689.
Seixas SV, et al. Burkitt leukemia with numb chin syndrome and cavernous sinus involvement. Eur J Paediatr Neurol. 2006;10:145–147.
Seizinger BR, Rouleau GA, Ozeluis LJ, et al. von Hippel–Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature. 1988;332:268.
Sekido Y, Pass HI, Bader S, et al. Neurofibromatosis type 2 (NF2) gene is somatically mutated in mesothelioma but not in lung cancer. Cancer Res. 1995;55:1227–1231.
Selva D, Fraco DS, Bonavolonta G, et al. Orbital venous lymphatic malformations mimicking cavernous hemangiomas. Am J Ophthalmol. 2001;131:364–370.
Semeraro F, Bertazzi L, Gasparotti R, et al. Multiple strokes in a newborn. Ophthalmology. 2009;116:812–813.
Semple P, Fieggen G, Parkes J, et al. Giant prolactinomas in adolescence: An uncommon cause of blindness. Childs Nerv Syst. 2007;23:213–217.
Sergeyev AS. On the mutation rate of neurofibromatosis. Hum Genet. 1975;28:129–138.
Serville F, Benit P, Saugier P, et al. Prenatal exclusion of X-linked hydrocephalus-stenosis of the aqueduct of Sylvius sequence using closely linked DNA markers. Prenat Diagn. 1993;13:435–439.
Serville F, Lyonnet S, Pelet A, et al. X-linked hydrocephalus: Clinical heterogeneity at a single gene locus. Eur J Pediatr. 1992;151:515–518.
Sevick RJ, Barkovich AJ, Edwards MS, et al. Evolution of white matter lesions in neurofibromatosis type 1: MR findings. AJR Am J Roentgenol. 1992;159:171–175.
Shami MJ, Benedict WL, Myers M. Early manifestation of retinal hamartomas in tuberous sclerosis. Am J Ophthalmol. 1993;115:539–540.
Shapiro F. Osteopetrosis. Current clinical considerations. Clin Orthop Relat Res. 1993;294:34–44.
Shaw PJ, Walls TJ, Newman PK, et al. Hashimoto’s encephalopathy: A steroid-responsive disorder associated with high anti-thyroid antibody titers-report of 5 cases. Neurology. 1991;41:228–233.
Sheard RM, Pope FM, Snead MP. A novel ophthalmic presentation of the proteus syndrome. Ophthalmology. 2002;109:1192–1195.
Sheen VL, Dixon PH, Fox JW, et al. Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Hum Mol Genet. 2001;10:1775–1783.
Sherman AR. Teratoid tumor of the conjunctiva and other developmental anomalies with naevus verrucosus of the scalp: Report of a case. Arch Ophthalmol. 1943;29:441–445.
Shields CL, Benevides R, Materin MA, et al. Optical coherence tomography of retinal astrocytic hamartoma in 15 cases. Ophthalmology. 2006;113:1553–1557.
Shields JA, Decker WL, Sanborn GE. Presumed acquired retinal hemangiomas. Ophthalmology. 1983;90:1292–1300.
Shields JA, Eagle RL, Shields CL, et al. Aggressive retinal astrocytomas in 4 patients with tuberous sclerosis complex. Arch Ophthalmol. 2005;123:856–862.
Shields JA, et al. Retinal Astrocytoma. In: Guyer DR, Yannuzzi LA, Chang S, eds. Retina-Vitreous-Macula. Phildelphia: W.B. Saunders; 1999:1182–1187.
Shome D, Vemuganti GK, Honavar SG. Choroidal ganglioneuroma in a patient with neurofibromatosis type 1: A case report. Eye. 2006;20:1450–1451.
Shorey P, Lobo G. Congenital corneal anesthesia: Problems in diagnosis. J Pediatr Ophthalmol Strabismus. 1990;27:143–147.
Shuangshoti S, Netsky MG, Nashold BS. Epithelial cysts related to sella turcica: Proposed origin from neuroepithelium. Arch Pathol. 1970;90:444–450.
Shults WT, Hamby S, Corbett JJ, et al. Neuro-ophthalmic complications of intracranial catheters. Neurosurgery. 1993;33:135–138.
Shurin SB, Rekate HL, Annable W. Optic atrophy induced by vincristine. Pediatrics. 1982;70:288–291.
Siatkowski RM. VEP testing and visual pathway gliomas: Not quite ready for prime time. J AAPOS. 2006;10:293–295.
Slatger A, Moore NR, Huson SM. The natural history of cerebellar hemangioblastomas in von Hippel–Lindau disease. N Engl J Med. 2004;350:2481–2486.
Slavin ML, Rosenthal AD. Chiasmal compression caused by a catheter in the suprasellar cistern. Am J Ophthalmol. 1988;105:560–561.
Sleep TE, Elsas F. Strabismus after endoscopic third ventriculostomy. J AAPOS. 2007;11:151–156.
Smirniotopoulos JG, Murphy FM. The phakomatoses. AJNR Am J Neuroradiol. 1992;13:725–746.
Smith ER, Butler WE, Ogilvy CS. Surgical approaches to vascular anomalies of the child’s brain. Curr Opin Neurol. 2002;15:165–171.
Smith NM, Carli MM, Hanieh A, et al. Gangliogliomas in childhood. Childs Nerv Syst. 1992;8:258–262.
Smith ER, Scott RM. Surgical management of Moyamoya syndrome. Skull Base. 2005;15:15–26.
Smith JL, Walsh TJ, Shipley T. Cortical blindness in congenital hydrocephalus. Am J Ophthalmol. 1966;62:251–257.
Smoller BR, Rosen S. Port-wine stains: A disease of altered neuromodulation of blood vessels? Arch Dermatol. 1986;122:177.
Sobel RA, Wang Y. Vestibular (acoustic) schwannomas: Histological features in neurofibromatosis 2 and in unilateral cases. J Neuropathol Exp Neurol. 1993;52:106–113.
Sorensen SA, Mulvihill JJ, Nielsen A. Long-term follow-up of von Recklinghausen neurofibromatosis. N Engl J Med. 1986;314:1010–1015.
Sorkin JA, Davis PC, Meacham LR, et al. Optic nerve hypoplasia: Absence of the posterior pituitary bright spot on magnetic resonance imaging correlates with diabetes insipidus. Am J Ophthalmol. 1996;122:717–723.
Sowar K, Straessle J, Donson AM, et al. Predicting which children are at risk for ependymoma relapse. J Neurooncol. 2006;24:1522–1528.
Spector RT, Smith JL, Parker JC Jr. Cecocentral scotomas in gliomatosis cerebri. J Clin Neuroophthalmol. 1984;4:229–238.
Spooner JW, Baloh RW. Arnold–Chiari malformation. Improvement in eye movements after surgical treatment. Brain. 1981;104:51–60.
Spoor TC, Kennerdell JS, Maroon JC, et al. Pneumosinus dilatans, Klippel–Trenauney–Weber syndrome, and progressive visual loss. Ann Ophthalmol. 1981;13:105–111.
Spoto GP, Press GA, Hesselink JR, et al. Intracranial ependymoma and subependymoma: MR manifestations. AJNR Am J Neuroradiol. 1990;11:83–91.
Squier MV. Pathological approach to the diagnosis of hydrocephalus. J Clin Pathol. 1997;50:181–186.
Stanley P, Senac MO Jr, Segal HD. Intraspinal seeding from intracranial tumors in children. AJR Am J Roentgenol. 1985;144:157–161.
Staudenmaier C, Buncic JR. Periodic alternating gaze deviation with dissociated secondary face turn. Arch Ophthalmol. 1983;101:202–205.
Steen RG, Taylor JS, Langston JW, et al. Prospective evaluation of the brain in asymptomatic children with neurofibromatosis type 1: Relationship of macrocephaly to T1 relaxation changes and structural brain abnormalities. AJNR Am J Neuroradiol. 2001;22:810–817.
Steinbok P. Clinical features of Chiari I malformations. Childs Nerv Syst. 2004;20:329–331.
Stell R, Bronstein AM, Plant GT, et al. Ataxia telangiectasia: A reappraisal of the ocular motor features and their value in the diagnosis of atypical cases. Mov Disord. 1989;4:320.
Stevenson DA, Birch PH, Friedman JM, et al. Descriptive analysis of tibial pseudathrosis in patients with neurofibromatosis 1. Am J Med Genet. 1999;84:413–419.
Stimac GK, Solomon MA, Newton TH. CT and MR of angiomatous malformations of the choroidal plexus in patients with Sturge–Weber disease. AJNR Am J Neuroradiol. 1986;17:175–180.
Stolle C, Glenn G, Zbar B, et al. Improved detection of germline mutations in the von Hippel–Lindau disease tumor suppressor gene. Hum Mutat. 1998;12:417–423.
Stolz E, Rahimi A, Gerriets T, et al. Cerebral venous thrombosis: An all or nothing disease? Prognostic factors and long-term outcome. Clin Neurol Neurosurg. 2005;107:99–107.
Stovner LJ, Kruszewski P, Shen JM. Sinus arrhythmia and pupil size in Chiari I malformation: Evidence of autonomic dysfunction. Funct Neurol. 1993;8:251–257.
Straube A, Witt TN. Oculo-bulbar myasthenic symptoms as the sole sign of tumour involving or compressing the brain stem. J Neurol. 1990;237:369–371.
Straumann D, Müller E. Torsional rebound nystgagmus in a patient with type I Chiari malformation. Neuroophthalmology. 1994;14:79–84.
Suárez JC, Viano JC, Zunino S, et al. Management of child optic pathway gliomas: New therapeutical options. Childs Nerv Syst. 2006;22:679–684.
Sullivan TJ, Clarke MP, Morin JD. The ocular manifestations of the Sturge–Weber syndrome. J Pediatr Ophthalmol Strabismus. 1992;29:349–356.
Sullivan LJ, O’Day J, McNeill P. Visual outcomes of pituitary adenoma surgery. J Clin Neuroophthalmol. 1991;11:262–267.
Sutton LN, Packer RJ, Rorke LB, et al. Cerebral gangliogliomas during childhood. Neurosurgery. 1983;13:124–128.
Swash M. Disorders of ocular movement in hydrocephalus. Proc R Soc Med. 1976;69:480–484.
Szenasy J, Slowik F. Prognosis of benign cerebellar astrocytomas in children. Childs Brain. 1983;10:39–47.
Tampiere D, Moumdjian R, Melanson D, et al. Intracerebral gangliogliomas in patients with partial complex seizures: CT and MR imaging findings. AJNR Am J Neuroradiol. 1991;12:749–755.
Taylor D. Pediatric Ophthalmology. Boston: Blackwell; 1990:583–589.
Taylor DC, Falconer MA, Bruton CJ, et al. Focal dysplasia of the cerebral cortex in epilepsy. J Neurol Neurosurg Psychiatry. 1971;34:369–387.
Tee AR, Fingar DC, Manning BD, et al. Tuberous scleorosis complex-1 and -2 gene products function together to inhibit mammalian targt of rapamycin (mTOR)-mediated downstream signaling. Proc Natl Acad Sci USA. 2002;99:13571–13576.
Ternier J, Wray A, Puget S. Tectal plate lesions in children. J Neurosurg. 2006;104:369–376.
Terrence CF, Samaha FJ. The Tolosa-Hunt syndrome (painful ophthalmoplegia) in children. Dev Med Child Neurol. 1973;15:506–509.
Terry A, Patrinely JR, Anderson RL, et al. Orbital meningoencephalocele manifesting as a conjunctival mass. Am J Ophthalmol. 1993;115:46–49.
Theron J, Newton TH, Hoyt WF. Unilateral retinocephalic vascular malformations. Neuroradiology. 1974;7:185–196.
Thomas PQ, Datgtani MT, Brickman JM, et al. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Hum Mol Genet. 2001;10:39–45.
Tien RD, Barkovich AJ, Edwards MS. MR imaging of pineal tumors. AJNR Am J Neuroradiol. 1990;155:143–151.
To KW, Rabinowitz SM, Friedman AH, et al. Neurofibromatosis and neural crest neoplasms: Primary acquired melanosis and malignant melanoma of the conjunctiva. Surv Ophthalmol. 1989;33:373–379.
Toda T, Segawa M, Nomura Y, et al. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nat Genet. 1993;5:283–286.
Toelle S, Yalcinkaya C, Kocer N, et al. Rhombencephalosynapsis: Clinical findings and neuroimaging in 9 children. Neuropediatrics. 2002;33:209–214.
Tomita T, McLone DG, Yasue M. Cerebral primitive neuroectodermal tumors in childhood. J Neurooncol. 1988;6:233–243.
Tonsgard JH, Oesterle CS. The ophthalmologic presentation of NF-2 in childhood. J Pediatr Ophthalmol Strabismus. 1993;30:327–330.
Torres OA, Roach ES, Delgado MR, et al. Early diagnosis of subependymal giant cell astrocytoma in patients with tuberous sclerosis. J Child Neurol. 1998;13:173–177.
Tortori-Donati P, Fondelli M, Rossi A, et al. Cystemic malformations of the posterior cranial fossa originating from a defect of the posterior membranous area: Mega cisternal magna and persisting Blake’s pouch: Two separate entities. Childs Nerv Syst. 1996;12:303–308.
Tournier-Lasserve E, Joutel A, Melki J, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet. 1993;3:256–259.
Tow SL, Chandela S, Miller NR, Avellino AM. Long-term outcome in children with gliomas of the anterior visual pathway. Pediatr Neurol. 2003;28:262–270.
Tripathi RC. The functional morphology of the outflow systems of ocular and cerebrospinal fluids. Exp Eye Res. 1977;25(Suppl):65–116.
Triulzi F, Scotti G, di Natale B, et al. Evidence of a congenital midline brain anomaly in pituitary dwarfs: A magnetic resonance imaging study in 101 patients. Pediatrics. 1994;93:409–416.
Trofatter J, MacCollin MM, Rutter JL, et al. A novel moesin-esrin-radixin-like gene is a candidate for the neurofibromatosis 2 tumour suppressor. Cell. 1993;72:791–800.
Troost BT, Mark LE, Maroon JC. Resolution of classic migraine after removal of an occipital lobe AVM. Ann Neurol. 1979;5:199–201.
Troost BT, Martinez J, Abel LA, et al. Upbeat nystagmus and internuclear ophthalmoplegia with brain stem glioma. Arch Neurol. 1980;37:453–456.
Troost BT, Newton TH. Occipital lobe arteriovenous malformations. Arch Ophthalmol. 1975;93:250–265.
Trope GE, Jay JL, Dudgeon J, et al. Self-inflicted corneal injuries in children with congenital corneal aneaesthesia. Br J Ophthalmol. 1985;69:551–554.
Tsukita S, Yonemura S, Tsukita S. ERM family: From cytoskeleton to signal transduction. Curr Opin Cell Biol. 1997;9:70–75.
Tubbs RS, Oakes WJ. Treatment and management of the Chiari II malformation: An evidence-based review of the literature. Childs Nerv Syst. 2004;20:375–381.
Tubbs RS, Soeau S, Custis J, et al. Degree of tectal beaking correlates to the presence of nystagmus in children with Chiari II malformation. Childs Nerv Syst. 2004;20:459–461.
Tucker T, Wolkenstein P, Revuz J, et al. Association between benign and malignant peripheral nerve sheath tumors and NF1. Neurology. 2005;65:205–211.
Tychsen L, Hoyt WF. Occipital lobe dysplasia. Magnetic resonance findings in two cases of isolated congenital hemianopia. Arch Ophthalmol. 1985;103:680–682.
Tzekov C, Cherninkova S, Gudeva T. Neuroophthalmological symptoms in children treated for internal hydrocephalus. Pediatr Neurosurg. 1992;17:317–320.
Undjian S, Marinov M. Intracranial ependymomas in children. Childs Nerv Syst. 1990;6:131–134.
Undjian S, Marinov M, Georgiev K. Long-term follow-up after surgical treatment of cerebellar astrocytomas in 100 children. Childs Nerv Syst. 1989;5:99–101.
Uysal Y, Güngör R, Sobaci G. Upgaze palsy due to hematoma that happen after ventriculoperitoneal shunt overflow. Proceedings of the 8th European Neuro-Ophthalmology Society Meeting, vol. 31, 2007:146.
Vagev R, Levy J, Shorer Z, et al. Congenital insensitivity to pain with anhidrosis: Ocular and systemic manifestations. Am J Ophthalmol. 1999;127:322–326.
Vahedi K, Massin P, Guichard J-P, et al. Hereditary infantile hemiparesis, retinal arteriolar tortuousity, and leukoencephalopathy. Neurology. 2003;60:57–63.
Valanne L, Pihko H, Katevuo K, et al. MRI of the brain in muscle–eye–brain (MEB) disease. Neuroradiology. 1994;36:473–476.
Vallee L, Fontaine M, Nuyts JP, et al. Stroke, hemiparesis and deficient mitochondrial beta-oxidation. Eur J Pediatr. 1994;153:598–603.
Van Allen M, Kalousek D, Chernoff D, et al. Evidence for multisite closure of the neural tube defects in humans. Am J Med Genet. 1993;47:723–743.
Van der Hoeve T. Eye disease in tuberous sclerosis of the brain. Trans Ophthalmol Soc UK. 1923;43:534–541.
Van-Dorp DB, Kwee ML. Tuberous sclerosis. Diagnostic problems in a family. Ophthalmic Paediatr Genet. 1990;11:95–101.
Van Stavern GP. A white herring. Proceedings of the North American Neuro-Ophthalmology Society 2002, Copper Mountain, CO.
Vaphiades MS, Eggenberger ER, Miller NR, et al. Resolution of papilledema after neurosurgical decompression for primary Chiari I malformation. Am J Ophthalmol. 2002;133:673–678.
Varnhagen CK, Lewin S, Das JP, et al. Neurofibromatosis and psychological processes. Dev Behav Pediatr. 1998;9:257–265.
Vavvas D, Fay A, Watkins L. Two cases of orbital lymphangioma associated with vascular abnormalities of the retina and iris. Ophthalmology. 2004;111:189–192.
Ventureyra EC, Aziz HA, Vassilyadi M. The role of cine flow MRI in children with Chiari malformation. Childs Nerv Syst. 2003;19:109–113.
Vézina L-G. Imaging of central nervous system tumors in children: Advances and limitations. J Child Neurol. 2008;23:1128–1135.
Villard L, Nguyen K, Cardoso C, et al. A locus for bilateral perisylvian polymicrogyria maps to Xq28. Am J Hum Genet. 2002;70:1003–1008.
Vinchon M, Soto-Ares G, Ruchoux MM, et al. Cerebellar gliomas in children with NF1: Pathology and surgery. Childs Nerv Syst. 2000;16:417–420.
Voelker JL, Campbell RL, Muller J. Clinical, radiographic, and pathological features of symptomatic Rathke’s cleft cysts. J Neurosurg. 1991;74:535–544.
Volpe JJ. Neurology of the Newborn. 2nd ed. Philadelphia: WB Saunders; 1987:311–361.
Volpe JJ. Intraventricular hemorrhage in the premature infant - Current concepts. Part I. Ann Neurol. 1989;25:3–11.
Volpe JJ. Intraventricular hemorrhage in the premature infant - Current concepts. Part II. Ann Neurol. 1989;25:109–116.
Vrabec TR, Sergott RC, Savino PJ, et al. Intermittent obstructive hydrocephalus in the Arnold–Chiari malformation. Ann Neurol. 1989;26:401–404.
Waggoner DJ, Towbin J, Gottesman G, et al. A clinic-based study of plexiform neurofibromas in NF1: Toward biologic based therapy. Neurology. 2002;58:1461–1470.
Walsh FB. Meningiomas, primary within the orbit and optic canal. In: Smith JL, ed. Neuro-ophthalmology symposium of the University of Miami and the Bascom palmer Eye Institute. 5th ed. St Louis, MO: Mosby; 1970:240–266.
Waner M, Suen Y. Management of congenital vascular lesions of the head and neck. Oncology. 1995;9:989–994.
Warburg M. Heterogeneity of congenital retinal nonattachment, falciform folds and retinal dysplasia. A guide to genetic counseling. Hum Hered. 1976;26:137–148.
Warburg M. Hydrocephaly, congenital retinal nonattachment, and congenital falciform fold. Am J Ophthalmol. 1978;26:137–148.
Warf BC, Campbell JW. Combined endoscopic third ventriculostomy and choroid plexus cauterization as primary treatment of hydrocephalus for infants with myelomeningocele: Long-term results of a prospective intent-to-treat study in 115 East Africant infants. J Neurosurg Pediatr. 2008;2:310–316.
Warner J, Digre K, Katz B. The Wall-eyed Potato Farmer. 32nd Annual Frank B. Walsh Meeting, Montreal, QC, March 25-26, 2000.
Warner A, Harris AG, Renard E, et al. A prospective multicenter trial of octreotide in 24 patients with visual defects caused by nonfunctioning and gonadotropin-secreting pituitary adenomas. Neurosurgery. 1997;41:786–789.
Wasay M, Dai AI, Ansari M, et al. Cerebral venous sinus thrombosis in children: A multicenter cohort from the United States. J Child Neurol. 2008;23:26–31.
Watkins L, Hayward R, Andar U, et al. The diagnosis of blocked cerebrospinal fluid shunts: A prospective study of referral to a paediatric neurosurgical unit. Childs Nerv Syst. 1994;10:87–90.
Warburg M, Sjö O, Fledelius HX, Pedersen SA. Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, hypogenitalism. Micro Syndrome. Am J Dis Child 1993;147:1309–1312.
Webb C, Prayson RA. Pediatric pituitary adenomas. Arch Pathol Lab Med. 2008;132:77–80.
Weber PC, Cass SP. Neurotologic manifestations of Chiari 1 malformation. Otolaryngol Head Neck Surg. 1993;109:853–860.
Webster AR, Maher ER, Moore AT. Clinical characteristics of ocular antiomatosis in von Hippel Lindau disease and correlation with germline mutation. Arch Ophthalmol. 1999;117:371–378.
Weeks CL, Hamed LM. Treatment of acute comitant esotropia in Chiari malformation. Ophthalmology. 1999;106:2368–2371.
Weinberg S, Bennett H, Weinstock I. CNS manifestations of sarcoidosis in children. Clin Pediatr. 1983;22:447–481.
Weiner A. A case of neurofibromatosis with buphthalmos. Arch Ophthalmol. 1925;54:481.
Welch K, Friedman V. The cerebrospinal fluid valves. Brain. 1960;83:454–469.
Welch JP, Penchaszadeh VB, Goldberg MF. Congenital indifference to pain. Birth Defects Orig Artic Ser. 1971;7:205–210.
Weleber RG, Zonana J. Iris hamartomas (Lisch nodules) in a case of segmental neurofibromatosis. Am J Ophthalmol. 1983;96:740–743.
Wende-Fischer R, Ehrenheim C, Heyer R, et al. In spinal symptoms, remember toxoplasmosis. Monatsschr Kinderheilkd. 1993;141:789–791.
Wertelecki W, Rouleau GA, Superneau DW, et al. Neurofibromatosis 2: Clinical and DNA linkage studies of a large kindred. N Engl J Med. 1988;319:278.
Wester K, Hugdahl K. Arachnoid cysts of the left temporal fossa: Impaired preoperative cognition and postoperative improvement. J Neurol Neurosurg Psychiatry. 1995;59:293–298.
Westerhof W, Delleman JW, Wolters E, et al. Neurofibromatosis and hypertelorism. Arch Dermatol. 1984;120:1579–1581.
White AM, Mohney BG, Woog JJ. Cavernous sinus meningioma presenting as intermittent exotropia in a 2-year-old girl. Can J Ophthalmol. 2007;42:341.
Widjaja E, Griffiths PD. Intracranial MR venography in children: Normal anatomy and variations. AJNR Am J Neuroradiol. 2004;25:1557–1562.
Williams J, Brodsky MC, Griebel M, et al. Septo-optic dysplasia: the clinical insignificance of an absent septum pellucidum. Dev Med Child Neurol. 1993;35:490–501.
Williams AS, Hoyt CS. Acute comitant esotropia in children with brain tumors. Arch Ophthalmol. 1989;107:376–378.
Williams R, Taylor D. Tuberous sclerosis. Surv Ophthalmol. 1985;30:143–154.
Williamson TH, Garner A, Moore AT. Structure of Lisch nodules in neurofibromatosis type 1. Ophthalmic Paediatr Genet. 1991;12:11–17.
Wilne SH, Ferris RC, Nathwani A, et al. The presenting features of brain tumors: A review of 200 cases. Arch Dis Child. 2006;91:502–596.
Wilson GN. Cranial defects in the Goldenhar syndrome. Am J Med Genet. 1983;14:435–443.
Wilson RD, Traverse L, Hall JG, et al. Oculocerebrocutaneous syndrome. Am J Ophthalmol. 1985;99:142–148.
Wolin MJ, Saunders RA. Aneurysmal oculomotor nerve palsy in an 11-year-old boy. J Clin Neuroophthalmol. 1992;12:178–180.
Wong WT, Agrón E, Coleman HR. Genotype-phenotype correlation in von Hippel–Lindau disease with retinal angiomatosis. Arch Ophthalmol. 2007;125:239–245.
Wong WT, Agrón E, Coleman HR, et al. Clinical characterization of retinal capillary hemangioblastomas in a large population of patients with von Hippel–Lindau disease. Ophthalmology. 2008;115:181–188.
Woody RC, Reynolds JD. Association of bilateral internuclear ophthalmoplegia and myelomeningocele with Arnold–Chiari malformation type II. J Clin Neuroophthalmol. 1985;5:124–126.
Wosley DH, Larson SA, Creel D, et al. Can screening for optic nerve gliomas in patients with neurofibromatosis type I be performed with visual-evoked potential testing? J AAPOS. 2006;10:307–311.
Wright JE, McNab AA, McDonald WI. Primary optic nerve sheath meningioma. Br J Ophthalmol. 1989;73:960–966.
Wyburn-Mason R. Arteriovenous malformation of the midbrain and retina, facial nerve, and mental changes. Brain. 1943;66:163–203.
Yachnis A. Rorke L Neuropathology of Joubert syndrome. J Child Neurol. 1999;14:655–659.
Yagev R, Levy J, Shorer Z, et al. Congenital insensitivity to pain with anhidrosis: Ocular and systemic manifestations. Am J Ophthalmol. 1999;127:322–326.
Yakovlev PI, Guthrie RH. Congenital ectodermoses (neuro-cutaneous syndromes) in epileptic patients. Arch Neurol Psychiatry. 1931;26:1145.
Yang SY, Wang ML, Xue QC. Cerebral cysticercosis. Surg Neurol. 1990;34:286–293.
Yasue M, Tanaka H, Nakajima M, et al. Germ cell tumors of the basal ganglia and thalamus. Pediatr Neurosurg. 1993;19:121–126.
Yasunari T, Shiraki K, Hattori H, et al. Frequency of choroidal abnormalities in neurofibromatosis type 1. Lancet. 2000;356:988–992.
Yee RD, Baloh RW, Honrubia V. Episodic vertical oscillopsia and downbeat nystagmus in a Chiari malformation. Arch Ophthalmol. 1984;102:723–725.
Yeung MC, Kwong KL, Wong YC, Wong SN. Paediatric Tolosa-Hunt syndrome. J Paediatr Child Health. 2004;40:410–413.
Yokota A, Matsukado Y, Fuwa I, et al. Anterior basal encephalocele of the neonatal period. Neurosurgery. 1986;19:468–478.
Yoshida J, Kobayashi T, Kageyama N, et al. Symptomatic Rathke’s cleft cyst: morphological study with light and electron microscopy and tissue culture. J Neurosurg. 1977;47:451–458.
Yoshimura K, Hamada F, Tomoda T, et al. Focal pachypolymicrogyria in three siblings. Pediatr Neurol. 1998;18:435–438.
Young DF, Eldridge R, Gardner WJ. Bilateral acoustic neuroma in a large kindred. JAMA. 1970;214:347–353.
Zaguardo MT, Cail WS, Kelman SE, et al. Reversible empty sella in idiopathic intracranial hypertension: an indicator of successful therapy. AJNR Am J Neuroradiol. 1996;17:1953–1956.
Zammarchi E, Calzolari C, Pignotti MS, et al. Unusual presentation of the immotile cilia syndrome in two children. Acta Paediatr. 1993;82:312–313.
Zaret CR, Behrens MM, Eggers HM. Congenital ocular motor apraxia and brain stem tumors. Arch Ophthalmol. 1980;98:328.
Zee DS. Supranuclear and internuclear ocular motor disorders. In: Miller NR, Newman NJ, eds. Walsh & Hoyt’s Clinical Neuro-Ophthalmology, vol. 1. 5th ed. Baltimore: Williams & Wilkins; 1998:1283–1349.
Zeid JL, Charrow J, Sandu M, et al. Orbital optic nerve gliomas in children with neurofibromatosis type 1. J AAPOS. 2006;10:534–539.
Zerah M, Garcia-Monaco R, Rodesch G, et al. Hydrodynamics in vein of Galen malformations. Childs Nerv Syst. 1992;8:111–117.
Zimmerman CF, Roach ES, Troost BT. Seesaw nystagmus associated with Chiari malformation. Arch Neurol. 1986;43:299–300.
Zoller M, Rembeck B, Akesson HO, et al. Life expectancy, mortality, and prognostic factors in neurofibromatosis 1: A twelve-year follow-up of an epidemiological study in Goteberg, Sweden. Acta Derm Venereol. 1995;75:136–140.
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 2010 Springer Science+Business Media, LLC
About this chapter
Cite this chapter
Brodsky, M.C. (2010). Neuro-Ophthalmologic Manifestations of Systemic and Intracranial Disease. In: Pediatric Neuro-Ophthalmology. Springer, New York, NY. https://doi.org/10.1007/978-0-387-69069-8_11
Download citation
DOI: https://doi.org/10.1007/978-0-387-69069-8_11
Published:
Publisher Name: Springer, New York, NY
Print ISBN: 978-0-387-69066-7
Online ISBN: 978-0-387-69069-8
eBook Packages: MedicineMedicine (R0)