Leigh syndrome and partial deficit of cytochrome c oxidase associated with epilepsia partialis continua

M Elia; S A Musumeci; R Ferri; V Colamaria; G Azan; D Greco; M C Stefanini

doi:10.1016/0387-7604(95)00126-3

Leigh syndrome and partial deficit of cytochrome c oxidase associated with epilepsia partialis continua

Brain Dev. 1996 May-Jun;18(3):207-11. doi: 10.1016/0387-7604(95)00126-3.

Authors

M Elia¹, S A Musumeci, R Ferri, V Colamaria, G Azan, D Greco, M C Stefanini

Affiliation

¹ Department of Neurology, Oasi Institute for Research on Mental Retardation and Brain Aging, Troina (EN), Italy.

PMID: 8836502
DOI: 10.1016/0387-7604(95)00126-3

Abstract

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.

Publication types

Case Reports

MeSH terms

Acidosis, Lactic / complications
Acidosis, Lactic / congenital
Child, Preschool
Cytochrome-c Oxidase Deficiency*
Electroencephalography
Epilepsia Partialis Continua / complications*
Epilepsia Partialis Continua / diagnosis
Epilepsia Partialis Continua / metabolism
Fibroblasts / enzymology
Humans
Leigh Disease / complications*
Leigh Disease / diagnosis
Leigh Disease / enzymology*
Magnetic Resonance Imaging
Male
Skin / cytology