成人异染性脑白质营养不良。II. 周围神经和骨骼肌的超微结构发现

Adult metachromatic leukodystrophy. II. Ultrastructural findings in peripheral nerve and skeletal muscle.

作者信息

Goebel H H, Pilz H, Argyrakis A

出版信息

Eur Neurol. 1977;15(6):308-17. doi: 10.1159/000114819.

PMID:20311

Abstract

Sural nerve biopsy in a 44-year-old woman with adult metachromatic leukodystrophy (MLD) confirmed by deficient arylsulfatase-A activity, showed a reduction in the number of large and small myelinated axons, and sparse metachromatic material. Ultrastructurally, the latter consisted of various types of residual bodies including the tufaceous and prismatic forms typical of MLD. In the striated muscle, large amounts of regular lipofuscin but no MLD-characteristic inclusions were encountered. Inclusion-bearing mitochondria in the muscle appeared to be an incidental finding.

摘要

一名44岁成年异染性脑白质营养不良（MLD）女性患者，经芳基硫酸酯酶A活性缺乏确诊，其腓肠神经活检显示，有髓大、小轴突数量减少，异染物质稀疏。超微结构上，后者由各种类型的残余小体组成，包括MLD典型的土状和棱柱状形式。在横纹肌中，发现大量规则的脂褐素，但未发现MLD特征性包涵体。肌肉中含包涵体的线粒体似乎是偶然发现。