Federico A, Dotti M T, Fabrizi G M, Palmeri S, Massimo L, Robinson B H, Malandrini A, Guazzi G C
Istituto di Scienze Neurologiche e Centro per lo studio delle Encefalo-Neuro-Miopatie Genetiche, Università di Siena, Italia.
Eur Neurol. 1990;30(3):123-7. doi: 10.1159/000117327.
We report an 8-year-old patient with clinical features suggesting Leigh's syndrome and with a decreased activity of the E1 component of the pyruvate dehydrogenase complex in cultured skin fibroblasts. A nerve biopsy showed the presence of severe peripheral neuropathy, rarely described in the literature. The partial correction of lactic acidosis with oral sodium bicarbonate chronic therapy may result in a slow evolution of the clinical symptoms.
我们报告了一名8岁患者，其临床特征提示为 Leigh 综合征，且培养的皮肤成纤维细胞中丙酮酸脱氢酶复合体E1成分的活性降低。神经活检显示存在严重的周围神经病变，这在文献中很少有描述。口服碳酸氢钠长期治疗对乳酸酸中毒的部分纠正可能会导致临床症状缓慢进展。
