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

Department of Neurology,Children's Hospital and Louisiana State University Health Sciences Center New Orleans, Louisiana, mpayne1{at}tulane.edu

Joseph M. Nadell

Department of Neurosurgery,Children's Hospital and Louisiana State University Health Sciences Center New Orleans, Louisiana

Yves Lacassie

Department of Genetics and Pediatrics, Children's Hospital and Louisiana State University Health Sciences Center New Orleans, Louisiana

Ann H. Tilton

Department of Neurology Children's Hospital and Louisiana State University Health Sciences Center New Orleans, Louisiana

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).

Journal of Child Neurology, Vol. 18, No. 7, 504-508 (2003)
DOI: 10.1177/08830738030180071101


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