Ross D L, Liwnicz B H, Chun R W, Gilbert E
Neurology. 1982 Sep;32(9):1013-6. doi: 10.1212/wnl.32.9.1013.
We studied a boy with macrocephaly, hypotonia, pigmentary retinopathy, unilateral whorled hypopigmented skin lesions, and seizures. Skin biopsy confirmed the clinical diagnosis of hypomelanosis of Ito. Postmortem examination at age 22 months revealed a severe neuronal migrational defect that altered the cerebral cortex architecture of white matter. There were many gray matter heterotopias characterized by altered neurons and giant cells. Electronmicroscopy revealed the astrocytic nature of the giant cells. Embryologic migration of both melanoblasts from neural crest and cortical neurons occurs in the second trimester, suggesting a common mechanism for the developmental pathology of skin and brain.
我们研究了一名患有巨头畸形、肌张力减退、色素性视网膜病变、单侧涡状色素减退性皮肤病变和癫痫发作的男孩。皮肤活检证实了伊藤色素减退症的临床诊断。22个月大时的尸体解剖显示出严重的神经元迁移缺陷，改变了大脑皮质白质结构。存在许多以神经元和巨细胞改变为特征的灰质异位。电子显微镜显示巨细胞具有星形胶质细胞的性质。来自神经嵴的黑素母细胞和皮质神经元的胚胎迁移均发生在妊娠中期，提示皮肤和大脑发育病理存在共同机制。
