Del Bigio M R, Chudley A E, Booth F A, Pacin S
Department of Pathology, University of Manitoba, Health Sciences Centre, Manitoba Institute for Child Health, Winnipeg, Canada.
Neuropediatrics. 2004 Oct;35(5):297-301. doi: 10.1055/s-2004-821172.
Krabbe disease, a disorder caused by the deficiency of lysosomal galactosylceramidase, is typically associated with cerebral white matter degeneration, cortical sparing, accumulation of macrophages ("globoid cells"), and ultrastructural needle-shaped inclusions. Two sisters presented with progressive neurological deterioration beginning before the age of 2.5 years. The first, who died at the age of 9 years, exhibited profound destruction of cerebral white matter with sparing of subcortical fibers but no globoid cells. The brain of the second, who died at the age of 15 years and who had a proven galactosylceramidase deficiency, exhibited white matter destruction, previously undescribed circumscribed spongiform cortical degeneration (postcentral, inferior temporal, cingulate), and cerebellar atrophy, but no globoid cells. The peripheral nerve biopsies from both girls exhibited typical needle-shaped inclusions in Schwann cells. These observations confirm the rare reports that Krabbe disease is not always associated with globoid cells in the brain. Psychosine, which accumulates in the brain, might be toxic to cortical neurons following prolonged survival. The reason for the regional susceptibility in the cerebral cortex is unknown.
克拉伯病是一种由溶酶体半乳糖神经酰胺酶缺乏引起的疾病，通常与脑白质变性、皮质保留、巨噬细胞（“球样细胞”）积聚以及超微结构针状包涵体有关。两名姐妹在2.5岁之前就开始出现进行性神经功能恶化。第一名在9岁时死亡，其脑白质遭到严重破坏，皮质下纤维得以保留，但没有球样细胞。第二名在15岁时死亡，经证实存在半乳糖神经酰胺酶缺乏，其大脑表现出白质破坏、此前未描述过的局限性海绵状皮质变性（中央后回、颞下回、扣带回）以及小脑萎缩，但没有球样细胞。两名女孩的周围神经活检均显示施万细胞中有典型的针状包涵体。这些观察结果证实了罕见的报道，即克拉伯病并不总是与脑中的球样细胞相关。在脑中积聚的半乳糖鞘氨醇，在长期存活后可能对皮质神经元有毒性。大脑皮质区域易感性的原因尚不清楚。
