title: Congenital glaucoma and neurofibromatosis in a monozygotic twin: case report and review of the literature.
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 ofthe 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.
authors.affiliation: Department of Neurology, Children's Hospital, New Orleans, Louisiana 70118, USA. mpayne1@tulane.edu
authors.forename: Mary S
authors.initials: MS
authors.lastname: Payne
authors.forename: Joseph M
authors.initials: JM
authors.lastname: Nadell
authors.forename: Yves
authors.initials: Y
authors.lastname: Lacassie
authors.forename: Ann H
authors.initials: AH
authors.lastname: Tilton
mesh_terms: D019080:Cafe-au-Lait Spots / Q000209:etiology; D005260:Female; D005901:Glaucoma / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008279:Magnetic Resonance Imaging; D018318:Neurofibroma, Plexiform / Q000209:etiology* / Q000235:genetics / Q000473:pathology*; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D014430:Twins, Monozygotic