Hsueh Chang-Wei, Ho Che-Sheng, Chiu Nan-Chang, Shen Ein-Yiao
Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
Acta Neurol Taiwan. 2004 Mar;13(1):29-33.
Neurocutaneous melanosis (NCM) is a rare nonfamilial syndrome and characterized by large or numerous congenital melanocytic nevi and excessive proliferation of melanin-containing cells in the leptomeninges. It is believed to be an embryonic neuroectodermal dysplasia. Patients with NCM may develop severe hydrocephalus and other neurological symptoms with extremely poor prognosis. We report an infant with multiple large congenital melanocytic nevi and hydrocephalus. He was admitted to our hospital due to intermittent projectile vomiting and irritable crying for one week. CSF cytology and brain magnetic resonance imaging revealed central nervous system involvement. His condition was much improved after ventriculoperitoneal shunting. Even though patients with NCM and hydrocephalus may have normal growth and development after shunt insertion, close follow-up for these patients is still warranted.
神经皮肤黑素沉着症（NCM）是一种罕见的非家族性综合征，其特征为存在巨大或众多先天性黑素细胞痣，以及软脑膜中含黑色素细胞的过度增殖。它被认为是一种胚胎神经外胚层发育异常。NCM患者可能会出现严重脑积水和其他神经症状，预后极差。我们报告一名患有多发性巨大先天性黑素细胞痣和脑积水的婴儿。他因间歇性喷射性呕吐和烦躁哭闹一周而入院。脑脊液细胞学检查和脑部磁共振成像显示中枢神经系统受累。脑室腹腔分流术后他的病情有了很大改善。尽管NCM合并脑积水的患者在分流术后可能生长发育正常，但仍需对这些患者进行密切随访。
