Leigh syndrome and partial deficit of cytochrome c oxidase associated with epilepsia partialis continua.
Epilepsia partialis continua (EPC) has previously been reported in only two patients with Leigh syndrome (LS). We report here a subject in whom LS and partial deficit of cytochrome c oxidase (COX) were associated with EPC. Epilepsy in this subject appeared when neurologic impairment was clearly evident and MRI showed cortical lesions typically associated with congenital lactic acidosis.
Elia
M
M
Department of Neurology, Oasi Institute for Research on Mental Retardation and Brain Aging, Troina (EN), Italy.
Musumeci
S A
SA
Ferri
R
R
Colamaria
V
V
Azan
G
G
Greco
D
D
Stefanini
M C
MC
D000140:Acidosis, Lactic / Q000150:complications / Q000151:congenital; D002675:Child, Preschool; D030401:Cytochrome-c Oxidase Deficiency; D004569:Electroencephalography; D017036:Epilepsia Partialis Continua / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007888:Leigh Disease / Q000150:complications* / Q000175:diagnosis / Q000201:enzymology*; D008279:Magnetic Resonance Imaging; D008297:Male; D012867:Skin / Q000166:cytology