de León G A, Breningstall G, Zaeri N
Acta Neuropathol. 1986;70(3-4):235-42. doi: 10.1007/BF00686077.
Diffuse degeneration of the cerebral cortex and claustrum was found in the brain of a 7-week-old baby with profound psychomotor retardation, multiple ankyloses, seizures, and hypothalamic dysfunction. There was ubiquitous Pick cell formation and gliosis in the affected gray matter. The cortex was not atrophic; in fact, the brain was moderately enlarged. The clinical and pathological findings suggest that the disorder should be distinguished from Pick's disease, as well as from other congenital encephalopathies.
在一名7周大的患有严重精神运动发育迟缓、多处关节强硬、癫痫发作和下丘脑功能障碍的婴儿大脑中,发现了大脑皮质和屏状核的弥漫性变性。在受影响的灰质中存在普遍的Pick细胞形成和胶质增生。皮质没有萎缩;事实上,大脑有中度肿大。临床和病理结果表明,该疾病应与Pick病以及其他先天性脑病相区分。