伴有溶酶体酶缺乏的青少年神经源性肌肉萎缩：新疾病还是黏多糖贮积症的变异型？
Juvenile neurogenic muscle atrophy with lysosomal enzyme deficiencies: new disease or variant of mucopolysaccharidosis?
作者信息
Goto I, Nakai H, Tabira T, Shinno N, Tanaka Y, Shibasaki H, Kuroiwa Y
出版信息
J Neurol. 1983;229(1):45-54. doi: 10.1007/BF00313495.
PMID:6189976
Abstract
An 18-year-old boy showed childhood onset of mental retardation, neurogenic muscle atrophy with hyperreflexia, Marfan-like features, multiple epiphyseal dysplasia, increased urinary excretion of dermatan sulfate, and decreased lysosomal enzyme activities in beta-galactosidase, beta-glucuronidase, and N-acetyl-beta-D-glucosaminidase. This case may be a new syndrome, the combination of neurogenic muscle atrophy with lysosomal enzyme deficiencies.
摘要
一名18岁男孩自童年起出现智力发育迟缓、神经性肌肉萎缩伴反射亢进、类马凡氏特征、多发性骨骺发育异常、硫酸皮肤素尿排泄增加以及β-半乳糖苷酶、β-葡萄糖醛酸酶和N-乙酰-β-D-氨基葡萄糖苷酶的溶酶体酶活性降低。该病例可能是一种新的综合征，即神经性肌肉萎缩与溶酶体酶缺乏症的组合。
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