Ohtake M, Takada G, Miyabayashi S, Arai N, Tada K, Morinaga S
Tohoku J Exp Med. 1982 Aug;137(4):379-86. doi: 10.1620/tjem.137.379.
A 23-month-old boy with progressive muscular hypotonia and mental and motor deterioration was described. Four days after the admission he had a respiratory arrest and required the care in a respirator thereafter. Laboratory examinations showed metabolic acidosis and high levels of pyruvate, lactate and alanine in blood and cerebrospinal fluid. Oral administration of thiamine-HCl and lipoic acid was noneffective and he died 7 months after the admission. Autopsy findings were compatible with subacute necrotizing encephalomyelopathy (Leigh's disease). The activity of pyruvate decarboxylase in autopsy samples was not detectable and that in fibroblasts was 9% of that in control cell lines. The present study confirmed that pyruvate decarboxylase deficiency is one of the causes of Leigh's disease.
报告了一名23个月大的男孩，患有进行性肌肉张力减退以及智力和运动功能退化。入院四天后，他出现呼吸骤停，此后需要使用呼吸机进行护理。实验室检查显示代谢性酸中毒，血液和脑脊液中的丙酮酸、乳酸和丙氨酸水平升高。口服盐酸硫胺素和硫辛酸无效，入院7个月后死亡。尸检结果符合亚急性坏死性脑脊髓病（Leigh病）。尸检样本中丙酮酸脱羧酶的活性无法检测到，而成纤维细胞中的活性为对照细胞系的9%。本研究证实丙酮酸脱羧酶缺乏是Leigh病的病因之一。
