Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia.
We describe a 16-year-old boy who has a progressive dementia and seizures. On investigation, he was found to have a mitochondrial myopathy and elevated lactate levels in the blood and cerebrospinal fluid. His sister died at 18 years of age of a similar condition.
D000293:Adolescent; D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000473:pathology; D007773:Lactates / Q000097:blood / Q000134:cerebrospinal fluid; D008297:Male; D008928:Mitochondria; D009130:Muscle, Smooth / Q000648:ultrastructure; D009132:Muscles / Q000473:pathology*; D009207:Myoclonus / Q000473:pathology; D010101:Oxygen Consumption; D011773:Pyruvates / Q000097:blood; D013577:Syndrome; D014057:Tomography, X-Ray Computed
D007773:Lactates; D011773:Pyruvates