GIANT AXONAL NEUROPATHY - REPORT ON A CASE WITH FOCAL FIBER LOSS

被引：18

作者：

SABATELLI, M

BERTINI, E

SERVIDEI, S

FERNANDEZ, E

MAGI, S

TONALI, P

机构：

[1] NEUROL INST, ROME, ITALY

[2] VILDM, ROME, ITALY

[3] UNIV CATTOLICA SACRO CUORE, INST NEUROSURG, I-00168 ROME, ITALY

来源：

ACTA NEUROPATHOLOGICA | 1992年 / 83卷 / 05期

关键词：

GIANT AXONAL NEUROPATHY; INTERMEDIATE FILAMENTS;

D O I：

10.1007/BF00310034

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report on a 5 1/2 year-old boy with chronic progressive polyneuropathy. ataxia. and pyramidal signs. His hair was not curled. Sural nerve biopsy disclosed many axons enlarged by accumulation of 10-nm neurofilaments and a marked variability in the number of myelinated fibers as well as in the amount of axonal enlargements among different fascicles. These findings and the electrophysiological data were consistent with a giant axonal polyneuropathy with a multifocal fiber loss.

引用

页码：543 / 546

页数：4

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