Miyao M, Saito T, Yamamoto Y, Kamoshita S
Childs Brain. 1984;11(4):280-4. doi: 10.1159/000120188.
The authors report a 1-year-old Japanese boy, who was noted to have unilateral alopecia and a cloudy cornea since birth. Additional features included mild spasticity and mental retardation, DQ being 70. A non-communicating cystic lesion was found in the right middle cerebral fossa by metrizamide CT scan, and resection of the lesion by craniotomy revealed an arachnoid cyst. The case was diagnosed as encephalocraniocutaneous lipomatosis, a recently described neurocutaneous syndrome.
作者报告了一名1岁的日本男孩，自出生以来就被发现有单侧脱发和角膜混浊。其他特征包括轻度痉挛和智力迟钝，发育商为70。通过甲泛葡胺CT扫描在右侧中脑窝发现一个非交通性囊性病变，开颅切除该病变显示为蛛网膜囊肿。该病例被诊断为脑颅皮肤脂肪瘤病，这是一种最近描述的神经皮肤综合征。
