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Abstract

We describe a dramatic case of an identical twin presenting at birth with unilateral congenital glaucoma. Because of the suspicion of neurofibromatosis 1 a magnetic resonance image of the neural axis was obtained, which revealed a plexiform neurofibroma with spinal cord impingement. Diagnosis of neurofibromatosis 1 was confirmed by 3 months of age with the emergence of café-au-lait spots. This case was compared with all 19 reports published in the English literature of neurofibromatosis 1 associated with congenital glaucoma. Initial presentation, family history, characteristics of the clinical syndrome, and outcome of glaucoma in infants with neurofibromatosis 1 and congenital glaucoma were reviewed. A plexiform neurofibroma of the ipsilateral eyelid was present in eight patients and ipsilateral facial hypertrophy occurred in three patients. Café-au-lait spots appeared between the ages of 5 weeks and 8 years; none of the patients were reported to have café-au-lait spots at birth. Newborns with unilateral congenital glaucoma should raise high suspicion for neurofibromatosis 1 and its associated findings, which might need immediate intervention. (J Child Neurol 2003;18:504—508).

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References

Easton DF , Ponder MA , Huson, SM , Ponder Baj : An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): Evidence for modifying genes. Am J Hum Genet 1993;53:305—313.

Bauer M. , Lubs H. , Lubs ML : Variable expressivity of neurofibromatosis-1 in identical twins. Neurofibromatosis 1988;1:323—329.

Friedman JM : Evaluation and management, in Friedman JM , Gutmann DH , Maccollin M , Riccardi VM (eds): Neurofibromatosis: Phenotype, Natural History, and Pathogenesis. Baltimore, Johns Hopkins University Press, 1999, 87—109.

Wolter JR , Gonzales-Sirit R. , Mankin WJ : Neurofibromatosis of the choroid. Am J Ophthalmol 1962;54:217—225.

Schiess-Gemuseus: Vier Fälle angeborener Anomalie des Auges: III. Hydrophthalmus mit Keratoglobus. Arch Ophthalmol 1884;30:195—209.

François J. , Katz C. : Association homolatérale d'hydrophtalmie, de névrome plexiforme de la paupière supérieure et d'hémihypertrophie faciale dans la maladie de Recklinghausen . Ophthalmologica 1961;142:549—571.

François J. , Haustrate L. , Philips A. : Hydrophtalmie unilatérale et hypertrophie hémifaciale homolatérale (neurinomatose de von Recklinghausen). Ann Oculist 1956;189:186—202.

Grant WM , Walton DS : Distinctive gonioscopic findings in glaucoma due to neurofibromatosis. Arch Ophthalmol 1968;79:127—134.

Satran L. , Letson RD , Seljeskog EL : Neurofibromatosis with congenital glaucoma and buphthalmos in a newborn. Am J Dis Child 1980; 134:182—183.

10.

Brownstein S. , Little JM : Ocular neurofibromatosis. Ophthalmology 1983;12:1595—1599.

11.

Oravisto T. : On neurofibromatosis in the region of the eye . Acta Ophthalmol 1949;27:89—98.

12.

Wheeler JM : Plexiform neurofibromatosis (Recklinghausen's disease) involving the choroid and ciliary body. Arch Ophthalmol 1936; 16:898—907.

13.

Juler F. : Neurofibromatosis or plexiform neurofibroma. Proc R Soc Med 1928;22:1806.

14.

Collins ET , Batten RD : Neurofibroma of the eyeball and its appendages. Trans Ophthalmol Soc U K 1905;25:248—257.

15.

Snell S. , Collins ET : Plexiform neuroma (elephantiasis neuromatosis) of temporal region, orbit, eyelid, and eyeball. Trans Ophthalmol Soc U K 1903;23:157—177.

16.

Castillo M. , Quencer RM , Glaser J. , Altman N. : Congenital glaucoma and buphthalmos in a child with neurofibromatosis. J Clin Neuroophthal 1988;8:69—71.

17.

Politi F. , Sachs R. , Barishak R. : Neurofibromatosis and congenital glaucoma. Ophthalmologica 1978;176:155—159.

18.

Wiener A. : A case of neurofibromatosis with buphthalmos. Arch Ophthalmol 1925;54:481—488.

19.

Burke JP , Laitch RJ , Talbot JF , Parsons MA : Choroidal neurofibromatosis with congenital iris ectropion and buphthalmos: Relationship and significance. J Pediatr Ophthalmol Strabismus 1991;28:265—267.

20.

Wolter JR : Corneal involvement in choroidal neurofibromatosis. J Pediatr Ophthalmol 1966;3:19—24.

21.

Arthurton MW : Hemihypertrophy? Haemangioma. Proc R Soc Med 1949;42:562.

22.

Knight MS : A critical survey of neoplasms of the choroid. Am J Ophthalmol 1925;8:791—801.

23.

Reed D. , Robertson WD , Rootman J. , Douglas G. : Plexiform neurofibromatosis of the orbit: CT evaluation. AJNR Am J Neuroradiol 1986;7:259—263.

24.

Font RL , Ferry AP : The phakomatoses. Int Ophthalmol Clin 1972 ;12(1):1—50.

25.

Harkin JC : Differential diagnosis of peripheral nerve tumors, in Omer GE , Spinner M (eds): Management of Peripheral Nerve Problems. Philadelphia, WB Saunders, 1980, 657—668.

26.

Smith RJ , Lipke RW : Surgical treatment of peripheral nerve tumors of the upper limb, in Omer GE , Spinner M (eds): Management of Peripheral Nerve Problems. Philadelphia, WB Saunders, 1980, 693—711.

27.

Waring GO III, Rodrigues MM , Laibson PR : Anterior chamber cleavage syndrome. A stepladder classification. Surv Ophthalmol 1975;20:3—27.

28.

Lewis RA , Riccardi VM : von Recklinghausen neurofibromatosis. Incidence of iris hamartomas. Ophthalmology 1981;86:348—354.

29.

Easton DF , Ponder MA , Huson SM , Ponder AJ : An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): Evidence for modifying genes. Am J Hum Genet 1993;53:305—313.

Congenital Glaucoma and Neurofibromatosis in a Monozygotic Twin: Case Report and Review of the Literature

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