Sung Kyoung-Su, Song Young-Jin
Department of Neurosurgery, College of Medicine, Dong-A University, Busan, Korea.
J Korean Neurosurg Soc. 2014 Jul;56(1):61-5. doi: 10.3340/jkns.2014.56.1.61. Epub 2014 Jul 31.
Neurocutaneous melanosis (NCM) is a rare congenital syndrome consisting of benign or malignant melanotic tumors of the central nervous system with large or numerous cutaneous melanocytic nevi. The Dandy-Walker complex (DWC) is characterized by an enlarged posterior fossa with high insertion of the tentorium, hypoplasia or aplasia of the cerebellar vermis, and cystic dilatation of the fourth ventricle. These each two conditions are rare, but NCM associated with DWC is even more rare. Most patients of NCM with DWC present neurological symptoms early in life such as intracranial hemorrhage, hydrocephalus, and malignant transformation of the melanocytes. We report a 14-year-old male patient who was finally diagnosed as NCM in association with DWC with extensive intracerebral and spinal cord involvement.
神经皮肤黑素沉着症(NCM)是一种罕见的先天性综合征,由中枢神经系统的良性或恶性黑素瘤以及大量或多发性皮肤黑素细胞痣组成。Dandy-Walker复合体(DWC)的特征是后颅窝扩大、小脑幕高位附着、小脑蚓部发育不全或缺失以及第四脑室囊性扩张。这两种情况都很罕见,但NCM合并DWC更为罕见。大多数患有DWC的NCM患者在生命早期就出现神经症状,如颅内出血、脑积水和黑素细胞恶变。我们报告一名14岁男性患者,最终被诊断为NCM合并DWC,伴有广泛的脑和脊髓受累。