title: Maternally inherited Leigh syndrome: an unusual cause of infantile apnea.
abstract: BACKGROUND
  Leigh Syndrome is an uncommon cause of infantile apnea.
  
  
  METHODS
  We report a 5-month-old girl with sudden respiratory arrest followed by episodic hyper- and hypo-ventilation, encephalopathy, and persistent lactic acidosis. Computed tomography of the brain revealed symmetric low densities over the basal ganglia, internal capsule, thalami, and midbrain. Cardiac echocardiogram was suggestive of hypertrophic cardiomyopathy.
  
  
  CONCLUSIONS
  Diagnosis of Leigh syndrome due to T8993G mutation was confirmed with polymerase chain reaction and direct DNA sequencing of mitochondrial genome. To our knowledge, this is the first report of proven maternally inherited Leigh syndrome in Hong Kong.
authors: Department of Paediatrics & Adolescent Medicine, The University of Hong Kong, Queen Mary Hospital, Hong Kong, China.
authors: Christy
authors: C
authors: Shuk-kuen Chau
authors: Ka-li
authors: KL
authors: Kwok
authors: Daniel K
authors: DK
authors: Ng
authors: Ching-Wan
authors: CW
authors: Lam
authors: Sui-Fan
authors: SF
authors: Tong
authors: Yan-Wo
authors: YW
authors: Chan
authors: Wai-Kwan
authors: WK
authors: Siu
authors: Yuet-Ping
authors: YP
authors: Yuen
mesh_terms: D001921:Brain / Q000473:pathology; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D002544:Cerebral Infarction / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D041321:Chromosomes, Human, X / Q000235:genetics*; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D006333:Heart Failure / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008931:Mitochondria, Muscle / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D017354:Point Mutation; D012131:Respiratory Insufficiency / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D012135:Respiratory Sounds / Q000209:etiology; D017422:Sequence Analysis, DNA; D014057:Tomography, X-Ray Computed
chemical_list: D004272:DNA, Mitochondrial