一例伴有明显共济失调和脑干受累的德热里纳-索塔斯病。临床、电生理、耳神经学及超微结构研究。

A case of Dejerine-Sottas disease with prominent ataxia and brain stem involvement. A clinical, electrophysiological, otoneurologic, and ultrastructural study.

作者信息

Barbieri F, Santangelo R, Bonuso S, Chiacchio L, Santoro L, Crisci C, Sequino L, Mosca F

机构信息

Clinica Neurologica, II Policlinico, Napoli, Italy.

出版信息

Clin Neurol Neurosurg. 1987;89(4):287-92. doi: 10.1016/s0303-8467(87)80033-1.

DOI:10.1016/s0303-8467(87)80033-1

PMID:2826063

Abstract

A case is presented of Dejerine-Sottas disease in a 12-year-old boy in which clinical signs made diagnosis of Friedreich's ataxia seem plausible. Based on marked slowing of motor conduction velocity, the sural nerve biopsy findings of a hypertrophic neuropathy with hypo- and demyelination of the nerve fibres, as well as the clinical history, the diagnosis of Dejerine-Sottas disease was made. ABR examination suggested involvement of brain stem at the roots and/or nuclei of the eighth cranial nerve, without involvement of higher structures.

摘要

本文报告了一名12岁男孩患德热里纳 - 索塔斯病的病例，其临床症状使得弗里德赖希共济失调的诊断看似合理。基于运动传导速度显著减慢、腓肠神经活检发现神经纤维肥大性神经病变伴神经纤维脱髓鞘和髓鞘变薄，以及临床病史，做出了德热里纳 - 索塔斯病的诊断。听觉脑干反应检查提示脑干在第八对脑神经的根部和/或核受累，而更高层次结构未受累。