title: [MELAS syndrome in a five year-old child: clinical, biological and genetic characteristics].
abstract: BACKGROUND
  MELAS syndrome is a rare mitochondrial cytopathy; its diagnosis can be difficult.
  
  
  METHODS
  A 6-month-old boy presented with febrile seizures, possibly due to viral meningitis. At 7 months, he developed myoclonia and "brain attacks" and, subsequently, myoclonical attacks, regression of psychomotor and mental acquisitions, and progressive visual loss. The ratio of lactatorachia/lactacidemia was increased. The molecular genetic analysis showed an heteroplasmic point mutation with A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(leu) (UUR) gene. He was the second child of a mother having frequent headaches. His great aunt, a sister of his maternal grandmother, was mentally retarded and had frequent epileptic seizures and hemiparesy since her childhood.
  
  
  CONCLUSIONS
  Any unusual neurological symptom, particularly when combined with "illegitimate" symptoms, should lead to search for a mitochondrial cytopathy.
authors.affiliation: Service de pédiatrie, centre hospitalier général, Saint-Pierre-de-la-Réunion, France.
authors.forename: A
authors.initials: A
authors.lastname: Edmar
authors.forename: A
authors.initials: A
authors.lastname: Lombès
authors.forename: M
authors.initials: M
authors.lastname: Renouil
authors.forename: A
authors.initials: A
authors.lastname: Bangui
authors.forename: D
authors.initials: D
authors.lastname: Lamblin
authors.forename: B
authors.initials: B
authors.lastname: Boumahni
authors.forename: G
authors.initials: G
authors.lastname: Chaurand
authors.forename: J B
authors.initials: JB
authors.lastname: Mariette
authors.forename: A
authors.initials: A
authors.lastname: Fourmaintraux
authors.forename: L
authors.initials: L
authors.lastname: Vallee
mesh_terms: D002675:Child, Preschool; D004827:Epilepsy / Q000235:genetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D017241:MELAS Syndrome / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D008297:Male; D017354:Point Mutation; D012313:RNA / Q000235:genetics; D000077278:RNA, Mitochondrial; D012356:RNA, Transfer, Leu / Q000235:genetics
chemical_list: D000077278:RNA, Mitochondrial; D012356:RNA, Transfer, Leu; D012313:RNA