Mitochondrial encephalomyopathy with 15915 mutation: Clinical report

被引：9

作者：

Seki, A ^{[1
]}

Nishino, I ^{[1
]}

Goto, Y ^{[1
]}

Maegaki, Y ^{[1
]}

Koeda, T ^{[1
]}

机构：

[1] NATL CTR NEUROL & PSYCHIAT,NATL INST NEUROSCI,DEPT ULTRASTRUCT RES,KODAIRA,TOKYO 187,JAPAN

来源：

PEDIATRIC NEUROLOGY | 1997年 / 17卷 / 02期

关键词：

D O I：

10.1016/S0887-8994(97)00080-5

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A 16-year-old boy with mitochondrial encephalomyopathy had seizures, short stature, muscle weakness, progressive hearing loss, mental retardation, and myoclonus. His cranial computed tomography showed progressive calcification in the basal ganglia and cerebral atrophy. Muscle biopsy revealed many ragged-red fibers with variable cytochrome c oxidase activity and some strongly succinate dehydrogenase-reactive blood vessels, Sequence analysis of the entire mitochondrial DNA revealed a novel point mutation in the tRNA-Thr gene at nucleotide pair 15915, Serum lactate levels were decreased by high-dose coenzyme Q10 (CoQ10) therapy. The spectral power density, a parameter of background activity on electroencephalography, was markedly improved after additional administration of idebenone, After initiation of combined CoQ10 and idebenone therapy, the clinical abnormalities did not progress for 16 months. (C) 1997 by Elsevier Science Inc. All rights reserved.

引用

页码：161 / 164

页数：4

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