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Journal of Child Neurology
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Evidence That Alpers-Huttenlocher Syndrome Could Be a Mitochondrial Disease

Magnhild Rasmussen, MD, PhD

Department of Pediatrics, National Hospital, Oslo, Norway

Truls Sanengen, MD, PhD

Department of Pediatrics, National Hospital, Oslo, Norway

Kari Skullerud, MD, PhD

Department of Pathology, National Hospital, Oslo, Norway

Eli Anne Kvittingen, MD, PhD

Institute of Clinical Biochemistry, National Hospital, Oslo, Norway

Ola H. Skjeldal, MD, PhD

Department of Pediatrics, National Hospital, Oslo, Norway

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. (J Child Neurol 2000; 15:473-477).

Journal of Child Neurology, Vol. 15, No. 7, 473-477 (2000)
DOI: 10.1177/088307380001500709


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