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 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.
Rasmussen
M
M
Department of Pediatrics, National Hospital, Oslo, Norway.
Sanengen
T
T
Skullerud
K
K
Kvittingen
E A
EA
Skjeldal
O H
OH
D002540:Cerebral Cortex / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis* / Q000473:pathology; D004832:Epilepsy, Absence / Q000175:diagnosis / Q000188:drug therapy / Q000473:pathology; D017809:Fatal Outcome; D005500:Follow-Up Studies; D006801:Humans; D008099:Liver / Q000473:pathology; D017093:Liver Failure / Q000175:diagnosis / Q000473:pathology; D017243:MERRF Syndrome / Q000175:diagnosis* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis* / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D014635:Valproic Acid / Q000008:administration & dosage / Q000009:adverse effects
D014635:Valproic Acid