Evidence that Alpers-Huttenlocher syndrome could be a mitochondrial disease

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 increa sing neurologic symptoms, including epilepsia partialis continua, and died. Autopsy findings in liver and cerebrum were consistent with progressive ne uronal degeneration of childhood with liver disease, also called Alpers-Hut tenlocher syndrome. Ragged red fibers and cytochrome c oxidase negative fib ers were present in muscle. These results suggest that Alpers-Huttenlocher syndrome, at least in some patients, is a mitochondrial disease.