表皮痣综合征1例

A Case of Schimmelpenning Syndrome

患儿男,3个月,心律不齐3个月,抽搐5次。生长发育落后,面容特殊,右侧眼球、眼睑异常。头顶、枕部及右侧额面部条带状分布黄色斑块。心脏听诊律不齐。动态心电图、心脏彩超异常。脑电图异常,脑MRI提示多处结构异常。诊断:表皮痣综合征。

A 3-month-old boy had arrhythmia at birth and hyperspasmia for five times. Physical examination showed growth retardation, special facial features, and anomal right eye and eyelid. Yellow patches could be detected in overhead and occipital area and right forehead as well. Arrhythmia eould also be found when taking cardiac auscultation. Dynamic electroeardiogram and cardiac rhrasonography were abnormal. Abnormal electroencephalogram and brainmagnetic resonanee imaging suggested several structural disorders. Diagnosis ： Schimmelpenning syndrome.