亚急性坏死性脑脊髓病中的丙酮酸脱羧酶缺乏症。

Pyruvate decarboxylase deficiency in subacute necrotizing encephalomyelopathy.

作者信息

Evans O B

出版信息

Arch Neurol. 1981 Aug;38(8):515-9. doi: 10.1001/archneur.1981.00510080077012.

DOI:10.1001/archneur.1981.00510080077012

Abstract

A partial deficiency of pyruvate decarboxylase (PDC) was demonstrated in a child with hyperlactatemia and progressive ataxia, bulbar paresis, ophthalmoplegia, and polyneuropathy. Subacute necrotizing encephalomyelopathy (SNE) was found at necropsy. The association of SNE and PDC deficiency has been reported rarely, but a review of the diverse metabolic defects associated with SNE suggests that decreased PDC activity may be the common feature of SNE.

摘要

在一名患有高乳酸血症、进行性共济失调、延髓麻痹、眼肌麻痹和多发性神经病的儿童中，证实存在丙酮酸脱羧酶（PDC）部分缺乏。尸检发现有亚急性坏死性脑脊髓病（SNE）。SNE与PDC缺乏的关联鲜有报道，但对与SNE相关的各种代谢缺陷进行回顾后发现，PDC活性降低可能是SNE的共同特征。