Velusamy S, Bharathi S Sindhu, Krishnakumar B
Department of Paediatric Neurology, Stanley Medical College, Chennai, Tamil Nadu, India.
J Pediatr Neurosci. 2017 Jan-Mar;12(1):102-104. doi: 10.4103/jpn.JPN_130_16.
Encephalocranial lipomatosis is a rare disorder that characteristically involves ectomesodermal tissues such as skin, eye, and the central nervous system. Here, we report a 3-year-old girl presented with developmental delay, seizures, limbal dermoid, and weakness of right lower limb. Imaging revealed hemiatrophy, arachnoid cyst, and polymicrogyria. The constellation of clinical finding and imaging leads to the diagnosis.
脑颅脂肪瘤病是一种罕见的疾病，其特征性地累及外胚层中胚层组织，如皮肤、眼睛和中枢神经系统。在此，我们报告一名3岁女孩，表现为发育迟缓、癫痫发作、角膜皮样瘤和右下肢无力。影像学检查显示半侧萎缩、蛛网膜囊肿和多小脑回。临床发现和影像学表现共同得出了诊断结果。
