Abstract
Patients with cranial/skeletal defects often exhibit neuroophthalmic abnormalities, which may be caused by specific anomalies within the spectrum of a given condition, or by an associated malformation of the nervous system, or be secondary to mechanical forces such as hydrocephalus. This chapter reviews the ophthalmic abnormalities found in progressive hemifacial atrophy, which are primarily due to structural defects,as well as ophthalmic abnormalities in Arnold-Chiari malformations, meningomyelocele, platybasia, and the Klippel-Feil syndrome,which are related to both structural and secondary neurological mechanisms.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Adams RD, Delong GR. Harrison’s principle of internal medicine. 10th edn. New York: McGraw-Hill, 1983.
Albert DM, Nordlund JJ, Lerner AB. Ocular abnormalities occurring with vitiligo. Ophthalmology 1979;86:1145–1158.
Allen LD, Ferguson-Smith MA, Donald I, et al. Amniotic-fluid alpha-fetoprotein in the antenatal diagnosis of spina bifida. Lancet 1973;2:522–525.
Aracena T, Roca FP, Barragan M. Progressive hemifacial atrophy (Parry-Romberg syndrome): report of two cases. Am J Ophthalmol 1979;11:953–958.
Arnold AC, Balon RW, Yee RD, et al. Internuclear ophthalmoplegia in the Chiari type II malformation. Neurology 1990;40:1850–1854.
Arnold J. Myelocyste, transposition von Gewebskeimen und sympodie. Beitr Pathol Anat Allg Pathol 1894;16:1–28.
Barkovich AJ, Norman D. Anomalies of the corpus callosum: correlation with further anomalies of the brain. AJNR 1988;9:493–501.
Barkovich AJ. Pediatric neuroimaging. New York: Raven Press, 1990.
Bauman GI. Absence of the cervical spine: Klippel-Feil syndrome. JAMA 1932;98:129–132.
Beighton P. Inherited disorders of the skeleton. 2nd edn. Edinburgh: Churchill Livingstone, 1988.
Bewermeyer H, et al. MRImaging of familial basilar impresson. J Comput Assist Tomogr 1984;8:953–956.
Biglan AW. Ophthalmic complications of meningomyelocele: a longitudinal study. Trans Am Ophthalmol Soc 1990;88:389–462.
Biglan AW. Strabismus associated with meningomyelocele. J Pediatr Ophthalmol 1995;32:309–314.
Bixenman WW, Laguna JF. Acquired esotropia as initial manifestion of Arnold-Chiari malformation. J Pediatr Ophthalmol Strabismus 1987;24:83–86.
Brodsky MC, Fray KJ. Brainstem hypoplasia in the Wildervanck (cervico-oculo-acoustic) syndrome. Arch Ophthalmol 1998;116:383–385.
Bronstein AM, Miller DH, Rudge P, Kendall BE. Down beating nystagmus: magnetic resonance imaging and neuro-otological findings. J Neurol Sci 1987;81:173–184.
Calmettes L, Amalric P, Bessou P. L’hemiatrophie faciale (maladie de Romberg) eses manifestations oculaires. Riv Oto-Neuro Oftalmol 1959;31:215.
Chamberlain WE. Basilar impression (platybasia). A bizarre developmental anomaly of the occipital bone and upper cervical spine with striking and misleading neurologic manifestations. Yale J Biol Med 1938–39;11:487–496.
Chiari H. Ueber die pathogenese der sogenannten Syringomyelia. Z Heilkd 1888;9:307–336.
Chiari H. Ueber veranderungen des kleinhirns, des pons und der medulla oblongata in folge von congenitales hydrocephalie des gross hirns, denkschr. Akad Wiss Wien 1896;63:71.
Chopra JS, Sawhney IM, Kak VK, Khosla VK. Craniovertebral anomalies: a study of 82 cases. Br J Neurosurg 1988;2:455–464.
Christoff N. A clinicopathologic study of vertical eye movements. Arch Neurol 1974;31:1–8.
Chu A, Seaber JH, Buckley EG. “A” pattern strabismus in myelomeningocele. Association for Research in Vision and Ophthalmology 1987;28.
Clarke RA, Catalan G, Diwan AD, Kearsley JH. Heterogeneity in Klippel syndrome: a new classification. Pediatr Radiol 1998;28:967–974.
Cleland J. Contribution to the study of spina bifida, encephalocoele, and anencephalus. J Anat Physiol 1883;17:257–259.
Clements DB, Kaushal K. A study of the ocular complications of hydrocephalus and meningomyelocele. Trans Ophthalmol Soc UK 1970;60:383–390.
Cogan DG, Barrows LJ. Platybasia and Arnold Chiari malformation. Arch Ophthalmol 1954;52:13–29.
Cogan DG. Downbeat nystagmus. Arch Ophthalmol 1968;80:757–768.
Collier M. Hemiatrophic faciale progressive avec megalocornea, micropapille et dysrophie naugeuse centrale du la cornea. Acta Ophthalmol 1971;49:946.
Collins WF, et al. Neurologic surgery. In: SI S (ed) Principles of surgery. New York: McGraw-Hill, 1984:1819–1820.
Corsello G, Carcione A, Castro L, Giuffre L. Cervico-oculo-acusticus (Wildervanck’s) syndrome: a clinical variant of Klippel-Feil sequence? Klin Padiatr 1990;202:176–179.
Dolan KB. Cervicobasilar relationships. Radiol Clin North Am 1977;15:155–166.
Duthie RB, Hoagland FT. Manifestations of musculoskeletal disorders. In: SI S (ed) Principles of surgery. New York: McGraw-Hill, 1984.
Eulenburg A. Lehrbuch der functionellen Nervenkrankheiten. Berlin: S. Karger, 1871.
Everberg G, Ratjen E, Sorenson H. Wildervanck’s syndrome. Klippel-Feil’s syndrome associated with deafness and retraction of the eyeball. Br J Radiol 1963;36:562–567.
Farmer SF, Ingram DA, Stephens JA. Mirror movements studies in a patient with Klippel-Feil syndrome. J Physiol 1990;428:467–484.
Ford JG, Busbee B, Reed JW, Yu D. Hemifacial atrophy and primary corneal endothelial failure. Arch Ophthalmol 1998;116:1246–1248.
France TD. Strabismus in hydrocephalus. Am Orthopt J 1975;25:101–105.
France TD. The association of A-pattern strabismus with hydrocephalus. In: Moore SMJ, Stockbridge L (eds) Orthoptics past, present and future. 1976.
Franceschetti A, Koenig H. L’importance du facteur hegeredodegeneratif dans l’hemiatrophie faciale progressive (Romberg): etude des complications oculaires dans ce syndrome. J Genet Hum 1952;1:27–64.
Friel JP. Dorland’s illustrated medical dictionary, 25 edn. Philadelphia: Saunders, 1974.
Galanopoulas A, McNab AA. Hemifacial atrophy: an unusual case of upper eyelid retraction. Ophthalmic Plast Reconstr Surg 1995;11:278–280.
Gardner WJ. The dysraphic states from syringomyelia to anencephaly. Amsterdam: Excerpta Medica, 1973.
Gaston H. Does the spina bifida child need an ophthalmologist? Z Kinderchir 1985;40:46–50.
Gilmour JR. The essential identity of the Klippel-Feil syndrome and iniencephaly. J Pathol Bacteriol 1941;53:117–131.
Goldberg MF. Waardenberg’s syndrome with fundus and other anomalies. Arch Ophthalmol 1966;76:797–810.
Goldhammer Y, Kronenberg J, Tadmor R, et al. Progressive hemifacial atrophy (Parry-Romberg’s disease), principally involving bone. J Laryngol Otol 1981;95:643–647.
Gorlin RJ, Pindborg JJ. Syndromes of the head and neck. New York: McGraw-Hill, 1976.
Gorlin RJ, Pindborg JJ, Cohen MM. Hemifacial atrophy. Syndromes of the head and neck. New York: McGraw-Hill, 1976.
Gosian AK, McCarthy JG, Pinto RS. Cervicovertebral anomalies and basilar impression in Goldenhar syndrome. Plast Reconstr Surg 1994;93:498–506.
Gumerlock MK, Belshe BD, Madsen R, Watts C. Cervical neurenteric fistula causing recurrent meningitis in Klippel-Feil sequence: case report and literature review. Pediatr Infect Dis J 1991;10:532–535.
Gunderson CG, Geenspan RH, Glaser GH, Lubs HA. The Klippel-Feil syndrome: genetic and clinical reevaluation of cervical fusion. Medicine (Baltim) 1967;46:491.
Gupte G, Mahajan P, Shreenivas VK, Kher A, Bharucha B. Wildervanck syndrome (cervico-oculo-acoustic syndrome). J Postgrad Med 1992;38:181–182.
Gustafson WA, Oldberg E. Neurologic significance of platybasia. Arch Neurol Psychiatry 1940;44:1184–1198.
Hacryakupoglu G, Pelit AA, Altunbasak S, Soyupak S, Ozer C. Crocodile tears and Dandy-Walker syndrome in cervico-oculoacoustic syndrome. J Pediatr Ophthalmol Strabismus 1999;36:301–303.
Haddow JE, Macri JN. Prenatal screening for neural tube defects. JAMA 1979;242:515–516.
Hakin KN, Yokoyama C, Wright JE. Hemifacial atrophy: an unusual cause of enophthalmos. Br J Ophthalmol 1990;74:496–497.
Hamed LM, Fang EN, Fanous MM, et al. The prevalence of neurologic dysfunction in children with strabismus who have superior oblique overaction. Ophthalmology 1993;100:1483–1487.
Hensinger RN, Lang JE, Macewan GD. Klippel-Feil syndrome. A constellation of associated anomalies. J Bone Joint Surg 1974;56:1246.
Hoang-Xuan T, Foster CS, Jakobiec FA, et al. Romberg’s progressive hemifacial atrophy: an association with scleral melting. Cornea 1991;10:361–366.
Hurwitz LJ, Shepard WH. Basilar impression and disordered metabolism of bone. Brain 1966;89:223–240.
Huttenlocher PR. The nervous system. Nelson’s textbook of pediatrics, 13 edn, vol 23. 1987:1357–1358.
Jagjit SC, et al. Craniovertebral anomalies: a study of 82 cases. Br J Neurosurg 1988;2:455–464.
Janeway R, Toole JF, Leinbach LB, Miller HS. Vertebral artery obstruction with basilar impression. Arch Neurol 1966;15:211.
Johnson RV, Kennedy WR. Progressive facial hemiatrophy (Parry-Romberg syndrome): Contralateral extraocular muscle impairment. Am J Ophthalmol 1969;67:561–564.
Kaney PM, Getch CC, Jallo J, Faerber EN. Cerebral syrinx with Chiari I malformation. Pediatr Neurosurg 1994;20:214–216.
Kirkhan TH. Cervico-oculo-acousticus syndrome with pseudopapilledema. Arch Dis Child 1969;44:504–508.
Klippel M, Feil A. Un cas d’absence des vertebres cervicales. Nouv Iconogr Salpet 1912;25:223.
La Hey E, Seerp Baarsma G. Fuchs’ heterochromic cyclitis and retinal vascular abnormalities in progressive hemifacial atrophy. Eye 1993;7:426–428.
Leigh RJ, Zee DS. The neurology of eye movements. Philadelphia: Davis, 1983.
Lennerstrand G, Gallo JE. Neuro-ophthalmological evaluation of patients with myelomeningocele and 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.
Leroy EC. Scleroderma (systemic sclerosis). In: Kelley WN (ed) Textbook of rheumatology. Philadelphia: Saunders, 1985.
Lewis MA, Goldstein S, Baker RS. MRImaging of the posterior fossa in ocular motility disorders-four case studies. J Clin Neuroophthalmol 1987;7:235–240.
Lewis AR, Kline LB, Sharpe JA. Acquired esotropia due to Arnold-Chiari I malformation. J Neuroophthalmol 1996;16:49–54.
Lucchese NJ, Goldberg MF. Iris and fundus pigmentary changes in tuberous sclerosis. J Pediatr Ophthalmol Strabismus 1981;18:45–46.
Maloley A, Weber S, Smith DR. A and V patterns of strabismus in meningomyelocele. Am Orthopt J 1977;27:115–118.
McLay K, Maran AGD. Deafness and the Klippel-Feil syndrome. J Laryngol 1969;83:175–184.
McLone DG, Knepper PA. The cause of Chiari II malformation: a unified theory. Pediatr Neurosci 1989;15:1–12.
Mendel. Uber hemiatrophia facialis. Dtsch Med Wochenschr 1888;14:321.
Merritt HH. A textbook of neurology. Philadelphia: Lea & Febiger, 1979.
Miedziak AL, Stefanyszyn M, Flanagan J, Eagle RJ. Parry-Romberg syndrome associated with intracranial vascular malformations. Arch Ophthalmol 1992;116:1235–1237.
Mikulis DJ, Diaz O, Egglin TK, Sanchez R. Variance of the position of the cerebellar tonsils with age: preliminary report. Radiology 1992;183:725–728.
Miller MT, Sloane H, Goldberg MF, et al. Progressive hemifacial atrophy (Parry-Romberg disease). J Pediatr Ophthalmol Strabismus 1987;24:27–36.
Miller MT, Spencer MA. Progressive hemifacial atrophy: a natural history study. Trans Am Ophthalmol Soc 1995;93:203–217.
Miller MT, Stromland K. Ocular motility in thalidomide embryopathy. J Pediatr Ophthalmol Strabismus 1991;1:47–54.
Miller NR. Walsh and Hoyt’s clinical neuro-ophthalmology, vol 2. Waverly Press, 1985.
Milunsky A, Jick H, Jick S, et al. Multivitamin folic acid supplementation in early pregnancy reduces the prevalence of neural tube defects. JAMA 1989;262:2847–2852.
Moss ML, Crikelair GF. Progressive facial hemiatrophy following cervical sympathectomy in the rat. Arch Oral Biol 1959;1:254–258.
Mossman SS, Bronstein AM, Gresty MA, et al. Convergence nystagmus associated with Arnold-Chiari malformation. Arch Neurol 1990;47:357–359.
Muchnick RS, Aston SJ, Rees TD. Ocular manifestations and treatment of hemifacial atrophy. Am J Ophthalmol 1979;88:889–897.
Nagib MG, Maxwell RE, Chou SN. Klippel-Feil syndrome in children: clinical features and management. Child’s Nerv Syst 1985;1:255–263.
Naidich TP. Cranial signs of the Chiari II malformation. J Neuroradiol 1981;8:207–227.
Naidich TP, McLone DG, Fulling KH. The Chiari II malformation. Part IV. The hindbrain deformity. Neuroradiology 1983;25:179–197.
Naidich TP, Pudlowski RM, Naidich JB. Computed tomographic signs of the Chiari II malformation. Part II. Midbrain and cerebellum. Radiology 1980;134:391–398.
Nishimura H, Okamoto N. Congenital malformations of the brain and skull, part I. In: Vinken PJ, Bruyn GW (eds) Iniencephaly: handbook of clinical neurology, vol 30. Amsterdam: North-Holland, 1977.
Nishizak T, et al. Bilateral internuclear ophthalmoplegia due to hydrocephalus: a case report. Neurosurgery 1985;17:822–825.
Noetzel MJ. Myelomeningocele: current concepts of management. Clin Perinatol 1989;16:311–329.
Ofodile FA, Woods JE. Progressive hemifacial atrophy. Surg Clin North Am 1977;57:621–627.
Ong K, Billson FA, Pathirana DSJ, Clifton-Bligh P. A case of progressive hemifacial atrophy with uveitis and retinal vasculitis. Aust NZ J Ophthalmol 1991;19:295–298.
Oppenheim H. Lehrbuch der nervenkrankheiten. Berlin: Karger, 1923.
Parry CH, Wartenberg R. Collection from unpublished medical writing of the late Calet Hillier. London: Underwood, 1825.
Peele TL. The neuroanatomic basis for clinical neurology. New York: McGraw-Hill, 1977.
Pensler JM, Murphy GF, Mulliken JB. Clinical and ultrastructural studies of Romberg’s hemifacial atrophy. Plast Reconstr Surg 1990;85:669–674.
Pfeiffer RA, Rott HD, Angerstein W. An autosomal dominant facioaudio symphalangism syndrome with Klippel-Feil anomaly: a new variant of multiple synostoses. Genet Counsel 1990;38:133–140.
Pieh C, Gottlob I. Arnold-Chiari malformation and nystagmus of skew. Neurol Neurosurg Psychiatry 2000;69:124–126.
Rabinowicz IM. Visual function in children with hydrocephalus. Trans Ophthalmol Soc UK 1974;94:353–365.
Rees TD. Facial atrophy. Clin Plast Surg 1976;3:637.
Rhaney K, Barclay GPT. Alimentary and spinal abnormalities. J Pathol Bacteriol 1959;77:457.
Rogers BO. Progressive facial hemiatrophy (Romberg’s disease): a review of 772 cases. In: Transactions of third international congress of plastic surgery. International Congress Series No. 66. Washington: Excerpta Medica Foundation, 1963.
Romberg HM. Cited in Wartenberg R. Trophoneurosen. Klinische Ergenbnisse. Berlin: Forstner, 1846.
Rothstein TB, Romano P, Shoch D. Meningomyelocele-associated ocular abnormalities. Trans Am Ophthalmol Soc 1973;LXXI:287–293.
Rothstein TB, Romano PE, Shoch D. Meningomyelocele. Am J Ophthalmol 1974;77:690–693.
Russel D, Donald C. The mechanism of internal hydrocephalus in spina bifida. Brain 1935;58:203–215.
Samuelsson LG. Meningomyelocele: a neuro-orthopedic and radiologic assessment. Dissertation. Stockholm: Karolinska Institutet, 1988.
Schimmenti LI, et al. Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari I malformation as part of renal-coloboma syndrome. Hum Mutat 1999;14:369–376.
Segal P, Jablonska S, Mrzyglod S. Ocular changes in linear scleroderma. Am J Ophthalmol 1961;51:807–813.
Smith DW. Recognizable patterns of human malformation. Philadelphia: Saunders, 1982.
Smith ED. The urinary trait in meningomyeloceles. In: Ed S (ed) Spina bifida and the total care of spinal myelomeningocele. Springfield: Thomas, 1965.
Stein SC, Schut L. Hydrocephalus in myelomeningocele. Child’s Brain 1979;4:413–419.
Stern HS, Elliot LF, Beegle PH. Progressive hemifacial atrophy associated with lyme disease. Plast Reconstr Surg 1992;90:479–483.
Stovner LJ, Kruszewski P, Shen J. Sinus arrhythmia and pupil size in Chiari I malformation: evidence of autonomic dysfunction. Funct Neurol 1993;8:251–257.
Straudenmaier C, Buncic JR. Periodic alternating gaze deviation with dissociated secondary face turn. Arch Ophthalmol 1983;101:202–205.
Sugar HS, Banks TL. Fuchs’ heterochromic cyclitis, associated with facial hemiatrophy (scleroderma en coup de sabre). Am J Ophthalmol 1964;57:627–632.
Taylor AR, Chakravorty BC. Clinical syndromes associated with basilar impression. Arch Neurol 1964;10:475.
Tominaga T, Koshu K, Ogawa A, Yoshimoto T. Transoral decompression evaluated by Cine-Mode magnetic resonance imaging: a case of basilar impression accompanied by Chiari malformation. Neurosurgery 1991;28:883–885.
Walsh FB, Hoyt WF. Clin Neuroophthalmol 1969;1:707–724.
Wartenberg R. Progressive facial hemiatrophy. Arch Neurol Psychiatry 1945;54:75–96.
Weeks CL, Hamed LM. Treatment of acute comitant esotropia in Chiari I malformation. Ophthalmology 1999;106:2368–2371.
Weintraub MI. Ophthalmoplegia and Arnold Chiari malformation without hydrocephalus. Dev Med Child Neurol 1990;32:929.
Wildervanck LS. The cervico-acusticus syndrome. In: Vinken PJBG, Myrianthopoulos NC (eds) Handbook of clinical neurology, vol 32. Amsterdam: North-Holland, 1978.
Widgerow AD. Klippel-Feil anomaly, cleft palate, and bifid tongue. Ann Plast Surg 1990;25:216.
Wolpert SM, Anderson M, Scott RM, et al. The Chiari II malformation: MR imaging evaluation. AJNR 1987;8:783–791.
Wong VCN, Fung CF. Basilar impression in a child with hypochondroplasia. Pediatr Neurol 1991;7:62–64.
Woody RC, Reynolds JD. Association of bilateral internuclear ophthalmoplegia and meningomyelocele and Arnold Chiari malformation type II. J Clin Neuroophthalmol 1985;5:124–126.
Yamanouchi H, Iwasaki Y, Sugai K, Mukono K. Duane retraction syndrome associated with Chiari I malformation. Pediatr Neurol 1993;9:327–329.
Yeow YK, Tjia TL. The localizing value of down beating nystagmus. Singapore Med J 1989;30:273–276.
Zafarulla MYM. Progressive hemifacial atrophy: a case report. Br J Ophthalmol 1985;69:545–547.
Zimmerman CF, Roach ES, Troost BT. See-saw nystagmus associated with Chiari malformation. Arch Neurol 1986;43:299–300.
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2006 Springer Science+Business Media, Inc.
About this chapter
Cite this chapter
Minzter, R.M., Buckley, E.G. (2006). Neurocranial Defects with Neuro-Ophthalmic Significance. In: Wright, K.W., Spiegel, P.H., Thompson, L.S. (eds) Handbook of Pediatric Neuro-Ophthalmology. Springer, New York, NY. https://doi.org/10.1007/0-387-27930-X_11
Download citation
DOI: https://doi.org/10.1007/0-387-27930-X_11
Publisher Name: Springer, New York, NY
Print ISBN: 978-0-387-27929-9
Online ISBN: 978-0-387-27930-5
eBook Packages: MedicineMedicine (R0)