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[异染性脑白质营养不良。晚发型青少年型。6例病例回顾]

[Metachromatic leukodystrophy. Late juvenile form. Review of 6 cases].

作者信息

Campistol Plana J, Colomer Orefil J, Poo Argüelles P, Vernet Bori A, Fernández Alvarez E

出版信息

An Esp Pediatr. 1983 Jul;19(1):41-8.

PMID:6139050
Abstract

Six cases of late infantile metachromatic leucodystrophy are presented. Behavioral changes and walking disturbances are the initial symptoms which tend to occur around 18 months of age. Slowing of nerve velocity conductions is a constant finding. Two out of six observations had normal CSF protein levels throughout their disease. Diagnosis was confirmed by sural nerve biopsy in two cases and by leucocyte arylsulfatase A measurement in the four remaining patients. Studies for carrier detection were performed in 4 of the 5 affected families.

摘要

本文报告了6例晚发性婴儿异染性脑白质营养不良病例。行为改变和行走障碍是最初出现的症状,往往在18个月左右出现。神经传导速度减慢是一个常见的表现。6例中有2例在整个病程中脑脊液蛋白水平正常。2例通过腓肠神经活检确诊,其余4例通过白细胞芳基硫酸酯酶A测定确诊。在5个受影响家庭中的4个进行了携带者检测研究。

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