Payne Mary S, Nadell Joseph M, Lacassie Yves, Tilton Ann H
Department of Neurology, Children's Hospital, New Orleans, Louisiana 70118, USA.
J Child Neurol. 2003 Jul;18(7):504-8. doi: 10.1177/08830738030180071101.
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.
我们描述了一例戏剧性的病例，一对同卵双胞胎出生时即患有单侧先天性青光眼。由于怀疑患有1型神经纤维瘤病，因此对神经轴进行了磁共振成像检查，结果显示存在丛状神经纤维瘤并伴有脊髓受压。在3个月大时出现咖啡牛奶斑，从而确诊为1型神经纤维瘤病。将该病例与英文文献中发表的所有19例与先天性青光眼相关的1型神经纤维瘤病报告进行了比较。回顾了1型神经纤维瘤病合并先天性青光眼婴儿的初始表现、家族史、临床综合征特征以及青光眼的转归。8例患者出现同侧眼睑丛状神经纤维瘤，3例患者出现同侧面部肥大。咖啡牛奶斑出现在5周龄至8岁之间；没有报告称任何患者出生时就有咖啡牛奶斑。患有单侧先天性青光眼的新生儿应高度怀疑患有1型神经纤维瘤病及其相关表现，可能需要立即进行干预。
