title: [A case with MELAS associated with epilepsia partialis continua].
abstract: We report a 14-year-old boy with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) who presented repeated episodes of abdominal pain and vomiting since the age of 8 years. In addition, he developed strokelike episodes with myoclonic seizures and transient hemiplegia on three occasions. At the age of 14-1/12-years, he also developed epilepsia partialis continua persisting for 10 days, which was associated with myoclonic seizures synchronized with spike discharges at the right central area. Laboratory examination disclosed increased levels of lactate and pyruvate in serum and CSF and low density areas in the bilateral temporal regions on CT scan. Muscle biopsy showed scattered ragged-red fibers. The enzyme activities (pyruvate dehydrogenase complex, pyruvate carboxylase, phosphoenol pyruvate carboxykinase, and cytochrome c oxidase) and the rates of decarboxylation of [3-14C]pyruvate in cultured skin fibroblasts were within normal ranges.
authors.affiliation: Department of Pediatrics, School of Medicine, University of Tokushima.
authors.forename: M
authors.initials: M
authors.lastname: Miyazaki
authors.forename: T
authors.initials: T
authors.lastname: Saijo
authors.forename: K
authors.initials: K
authors.lastname: Mori
authors.forename: M
authors.initials: M
authors.lastname: Tayama
authors.forename: E
authors.initials: E
authors.lastname: Naito
authors.forename: T
authors.initials: T
authors.lastname: Hashimoto
authors.forename: Y
authors.initials: Y
authors.lastname: Kuroda
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
mesh_terms: D000140:Acidosis, Lactic / Q000150:complications*; D000293:Adolescent; D001927:Brain Diseases / Q000150:complications*; D002561:Cerebrovascular Disorders / Q000150:complications*; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000175:diagnosis / Q000209:etiology* / Q000473:pathology; D006429:Hemiplegia / Q000175:diagnosis / Q000209:etiology* / Q000473:pathology; D006801:Humans; D008297:Male; D008931:Mitochondria, Muscle / Q000473:pathology*; D009132:Muscles / Q000473:pathology; D013577:Syndrome; D014057:Tomography, X-Ray Computed