title: [Mitochondrial encephalomyelitis, lactic acidosis and cerebrovascular accidents (MELAS) in pediatric age with the A3243G mutation in the tRNALeu(UUR) gene of mitochondrial DNA].
abstract: OBJECTIVE
  To evaluate three patients with the mitochondrial encephalopathy, lactic acidosis and cerebrovascular accident syndrome (MELAS) diagnosed in childhood, with particular reference to the initial symptoms and clinical evolution during the first stage at a pediatric age, and to compare them with other studies on the subject.
  
  
  METHODS
  Two boys and a girl of 10, 11 and 13 years had tests on lactate, pyruvate and aminoacids in biological fluids under basal conditions and also functional tests and enzyme activity assay of the mitochondrial respiratory chain of a muscle biopsy. We also analysed the particular DNA mutations related to MELAS in different tissues from these patients and in lymphocytes from members of the mothers' families who could be tested.
  
  
  RESULTS
  The patients fulfilled the clinical criteria for the MELAS syndrome. Neuroimaging showed cerebrovascular accidents. Neurophysiological studies showed myopathy in one patient and neuroaxonal neuropathy in another. In two cases ophthalmological study showed retinitis pigmentaria and during cerebrovascular accidents transient phenomena of homonymous hemianopsia and cortical blindness were seen. In all patients muscle biopsy showed ragged red fibres and the biochemical study showed an enzyme deficit in the respiratory mitochondrial chain. On molecular genetic study of the mitochondrial DNA (mtDNA) there was a particular mutation A3243G on the tRNA(Leu) in all patients and some members of the mothers' families.
  
  
  CONCLUSIONS
  In children with frequent episodes of migraine headaches, vomiting, refractory epilepsy and fatigue the presence of a mitochondrial disease should be suspected. On detection of mtDNA mutations MELAS may be diagnosed even without all the clinical criteria which characterise this syndrome.
authors: Servicio de Neuropediatría, Hospital Sant Joan de Déu, Universitat de Barcelona, Esplugues de Llobregat, Barcelona.
authors: L
authors: L
authors: Coelho-Miranda
authors: A
authors: A
authors: Playan
authors: R
authors: R
authors: Artuch
authors: M A
authors: MA
authors: Vilaseca
authors: J
authors: J
authors: Colomer
authors: P
authors: P
authors: Briones
authors: J
authors: J
authors: Coll-Cantí
authors: J
authors: J
authors: Conill
authors: A
authors: A
authors: Sans
authors: A
authors: A
authors: López de Munain
authors: A
authors: A
authors: Solano
authors: M J
authors: MJ
authors: Alcaine
authors: J
authors: J
authors: Montoya
authors: M
authors: M
authors: Pineda
mesh_terms: D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D017241:MELAS Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012356:RNA, Transfer, Leu / Q000235:genetics*; D014057:Tomography, X-Ray Computed
chemical_list: D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu