title: [Leigh disease in a 3-year-old girl].
abstract: A case of Leigh disease in a 3-year-old girl is reported. The child had regression of the psychomotor development, muscular hypotonia, weak tendinous reflexes, opsoclonus, tremor of the whole body, hypertrichosis, autonomic system disturbances. Laboratory investigations demonstrated raised serum lactic acid level. Postmortem histological examination of the brain confirmed the diagnosis of Leigh disease established before death.
authors.affiliation: II Katedry i Kliniki Pediatrii Sl. A.M, Katowicach.
authors.forename: J
authors.initials: J
authors.lastname: Kałuza
authors.forename: M
authors.initials: M
authors.lastname: Krauze
authors.forename: E
authors.initials: E
authors.lastname: Marszał
authors.forename: K
authors.initials: K
authors.lastname: Wojczańska-Stanek
authors.forename: E
authors.initials: E
authors.lastname: Jamroz
authors.forename: B
authors.initials: B
authors.lastname: Szwed-Białozyt
mesh_terms: D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007773:Lactates / Q000097:blood; D019344:Lactic Acid; D007888:Leigh Disease / Q000097:blood / Q000175:diagnosis* / Q000473:pathology; D009123:Muscle Hypotonia / Q000175:diagnosis*; D011596:Psychomotor Disorders / Q000175:diagnosis*
chemical_list: D007773:Lactates; D019344:Lactic Acid
vernacular_title: Choroba Leigh'a u trzyletniej dziewczynki.