Hager B C, Dyme I Z, Guertin S R, Tyler R J, Tryciecky E W, Fratkin J D
Department of Pediatrics and Human Development, Michigan State University, East Lansing.
Pediatr Neurol. 1991 Jan-Feb;7(1):45-9. doi: 10.1016/0887-8994(91)90105-t.
A 3-month-old white male with linear nevus sebaceous syndrome (LNSS), facial deformities, brain malformations, and cortical blindness is presented. Facial deformities included left ear hypertrophy and a left-sided hamartomatous neck mass. Magnetic resonance imaging suggested that a central nervous system (CNS) abnormality, involving gray and white matter, should be linked with LNSS. Magnetic resonance imaging was more useful than computed tomography in demonstrating the full spectrum of CNS anomalies, including unilateral lissencephaly, a paucity of white matter, excessive and heterotopic gray matter, apparent left schizencephaly, and unilateral left colpocephaly (dilation of atrium and posterior horn of lateral ventricle). Postmortem examination revealed left hemisphere megalencephaly with a dilated posterior horn of the lateral ventricle. The impressive gray matter heterotopias likely were the source of the patient's seizures and perhaps the ultimate cause of death. Megalencephaly and other deviations of neuronal migration should be considered as a dramatic component of LNSS.
本文报告了一名3个月大的白人男性，患有线性皮脂腺痣综合征（LNSS）、面部畸形、脑畸形和皮质盲。面部畸形包括左耳肥大和左侧错构瘤性颈部肿块。磁共振成像显示，涉及灰质和白质的中枢神经系统（CNS）异常应与LNSS相关。在显示CNS异常的全貌方面，磁共振成像比计算机断层扫描更有用，这些异常包括单侧无脑回畸形、白质稀少、灰质过多和异位、明显的左侧脑裂畸形以及单侧左侧脑室球囊扩张（侧脑室房部和后角扩张）。尸检显示左半球巨脑症，侧脑室后角扩张。令人印象深刻的灰质异位可能是患者癫痫发作的根源，也许是最终的死亡原因。巨脑症和其他神经元迁移异常应被视为LNSS的一个显著组成部分。
