LATE ONSET KRABBES LEUKODYSTROPHY - A REPORT OF 4 CASES

被引:33
作者
PHELPS, M
AICARDI, J
VANIER, MT
机构
[1] HOP NECKER ENFANTS MALAD,DEPT PEDIAT,UNITE NEUROL,149 RUE SEVRES,F-75743 PARIS 15,FRANCE
[2] CTR HOSP LYON SUD,HOP ST EUGENIE,FDN GILLET MARCEL MERIEUX,NEUROCHIM LAB,F-69310 PIERRE BENITE,FRANCE
关键词
D O I
10.1136/jnnp.54.4.293
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Four cases of late-onset Krabbe's leukodystrophy had varying clinical features. One sibling became wheelchair-bound while another leads an active working life. The computed tomography (CT) scan of a third patient showed occipital demyelination with contrast enhancement identical to that seen in an adrenoleucodystrophy. The fourth was the only patient with peripheral neuropathy. All patients had enzyme activity comparable to the classic infantile-onset form.
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页码:293 / 296
页数:4
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