[Leigh disease in a 3-year-old girl].
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.
Kałuza
J
J
II Katedry i Kliniki Pediatrii Sl. A.M, Katowicach.
Krauze
M
M
Marszał
E
E
Wojczańska-Stanek
K
K
Jamroz
E
E
Szwed-Białozyt
B
B
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*
D007773:Lactates; D019344:Lactic Acid
Choroba Leigh'a u trzyletniej dziewczynki.