克拉贝病：球形细胞脑白质营养不良。
Krabbe's disease: globoid cell leukodystrophy.
作者信息
Jacob J C, Kutty K M, Islam M, Dominic R G, Dawson G
出版信息
Can Med Assoc J. 1973 Jun 2;108(11):1398-400.
The clinical features of regression in mental and motor development of a 7-month-old child are reported, together with the demonstration of a profound deficiency of galactosylceramide beta-D-galactosidase in a liver biopsy. The diagnosis of Krabbe's disease or globoid cell leukodystrophy (GLD) is therefore unequivocally established. The clinical features and morbid anatomical findings permitting the diagnosis of GLD in two of the child's sibs are summarized. This is the first report from Newfoundland of this inborn error of sphingolipid metabolism.
报告了一名7个月大儿童精神和运动发育倒退的临床特征，同时还展示了肝脏活检中β-D-半乳糖苷神经酰胺半乳糖苷酶严重缺乏的情况。因此，明确诊断为克拉伯病或球样细胞脑白质营养不良（GLD）。总结了该患儿两名同胞中可诊断为GLD的临床特征和病理解剖学发现。这是来自纽芬兰关于这种鞘脂代谢先天性缺陷的首例报告。
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