title: Mitochondrial encephalo-neuro-myopathy with myoclonus epilepsy, basal nuclei calcification and hyperlactacidemia.
abstract: We report a new case of MERRF (myoclonus epilepsy with ragged red fibers) syndrome with basal nuclei calcification on the brain CT scan, without hormonal abnormalities, with high CSF protein and hyperlactacidemia, juvenile onset and death at 18 years. Biochemical study of mitochondrial muscle enzymes showed decreased NADH-cytochrome-C-reductase and Succinate-cytochrome C-reductase activity, suggesting a Complex III defect of the respiratory chain. Similar reported cases are reviewed.
authors: Istituto di Scienze Neurologiche e Centro per lo studio delle Encefalo-Neuro-Miopatie Genetiche, dell'Università di Siena.
authors: A
authors: A
authors: Federico
authors: F
authors: F
authors: Cornelio
authors: S
authors: S
authors: Di Donato
authors: E
authors: E
authors: Ederli
authors: G M
authors: GM
authors: Fabrizi
authors: L
authors: L
authors: Manneschi
authors: G C
authors: GC
authors: Guazzi
mesh_terms: D000293:Adolescent; D001480:Basal Ganglia Diseases / Q000201:enzymology / Q000473:pathology*; D002114:Calcinosis / Q000201:enzymology / Q000473:pathology; D004827:Epilepsy / Q000201:enzymology / Q000473:pathology*; D006801:Humans; D007773:Lactates / Q000097:blood*; D019344:Lactic Acid; D008297:Male; D008931:Mitochondria, Muscle / Q000201:enzymology / Q000648:ultrastructure*; D009207:Myoclonus / Q000201:enzymology / Q000473:pathology*; D009245:NADH Dehydrogenase / Q000378:metabolism
chemical_list: D007773:Lactates; D019344:Lactic Acid; D009245:NADH Dehydrogenase