Evidence that Alpers-Huttenlocher syndrome could be a mitochondrial disease

被引：19

作者：

Rasmussen, M ^{[1
]}

Sanengen, T

Skullerud, K

Kvittingen, EA

Skjeldal, OH

机构：

[1] Natl Hosp Norway, Dept Pediat, N-0027 Oslo, Norway

[2] Natl Hosp Norway, Dept Pathol, N-0027 Oslo, Norway

[3] Natl Hosp Norway, Inst Clin Biochem, N-0027 Oslo, Norway

来源：

JOURNAL OF CHILD NEUROLOGY | 2000年 / 15卷 / 07期

关键词：

D O I：

10.1177/088307380001500709

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report an 11-year-old boy with a slight developmental delay and epilepsy. After he was placed on valproate, he developed hepatic failure and increasing neurologic symptoms, including epilepsia partialis continua, and died. Autopsy findings in liver and cerebrum were consistent with progressive neuronal degeneration of childhood with liver disease, also called Alpers-Huttenlocher syndrome. Ragged red fibers and cytochrome c oxidase negative fibers were present in muscle. These results suggest that Alpers-Huttenlocher syndrome, at least in some patients, is a mitochondrial disease.

引用

页码：473 / 477

页数：5

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