对乙酰唑胺有反应的非家族性周期性共济失调。

Non-familial periodic ataxia responding to acetazolamide.

作者信息

Verlooy P, Velis D N

出版信息

Clin Neurol Neurosurg. 1985;87(1):35-7. doi: 10.1016/0303-8467(85)90063-0.

Abstract

A 44-year-old man presented with symptoms of periodic ataxia, dysarthria, nausea and excessive sweating during the last twenty years. These symptoms could be provoked by physical or emotional stress and disappeared after bedrest for several hours. No other members of his family were known to have such complaints. Acetazolamide (Diamox) proved effective in preventing these symptoms. A disturbance of tryptophan metabolism is suggested as a cause of this disorder.

摘要

一名44岁男性在过去20年中出现周期性共济失调、构音障碍、恶心和多汗症状。这些症状可由身体或情绪压力诱发，卧床休息数小时后消失。其家族中无其他成员有此类主诉。乙酰唑胺（醋氮酰胺）被证明对预防这些症状有效。提示色氨酸代谢紊乱是该疾病的病因。