Barth P G, Valk J, Kalsbeek G L, Blom A
Neuropadiatrie. 1977 Nov;8(4):418-28. doi: 10.1055/s-0028-1091537.
A 3 1/2-year-old boy with this syndrome is reported. The clinical features were: linear organoid nevus, characteristically involving the midline of the face with extension to one side (right side in this case), hemimacrocephaly, mental and motor retardation, epilepsy originating from a focus in the right hemisphere, a malformed hemisphere and ventricular system on the right side on pneumoencephalographic and angiographic study and a hamartoma-like malformation protruding into the frontal horn of the right lateral ventricle.
报告了一名患有该综合征的3岁半男孩。临床特征为:线状类器官痣,典型地累及面部中线并延伸至一侧(本例为右侧),半侧巨脑畸形,智力和运动发育迟缓,起源于右侧半球病灶的癫痫,气脑造影和血管造影研究显示右侧半球和脑室系统畸形,以及一个突出到右侧侧脑室额角的错构瘤样畸形。