Premium
Mitochondrial respiratory chain defects: Underlying etiology in various epileptic conditions
Author(s) -
Lee Young Mock,
Kang Hoon Chul,
Lee Joon Soo,
Kim Se Hoon,
Kim Eung Yeop,
Lee Seung Koo,
Slama Abdelhamid,
Kim Heung Dong
Publication year - 2008
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/j.1528-1167.2007.01522.x
Subject(s) - leigh disease , epilepsy , respiratory chain , etiology , encephalopathy , medicine , west syndrome , atrophy , mitochondrial respiratory chain , mitochondrial disease , pediatrics , mitochondrial myopathy , gastroenterology , lactic acidosis , ketogenic diet , pathology , cerebral atrophy , epileptic spasms , magnetic resonance imaging , radiology , mitochondrion , biology , psychiatry , mitochondrial dna , biochemistry , gene , microbiology and biotechnology
SummaryPurpose: To determine if defects in mitochondrial respiratory chain enzyme complexes (MRCs) contribute to the etiology of childhood epilepsy.Methods: We reviewed the clinical and laboratory features of 48 epileptic patients (23 male, 25 female) with MRC defects that were confirmed by biochemical assays using muscle biopsies.Results: (1) Thirty‐five cases (72.9%) were MRC I deficient, one case (2.1%) was MRC II deficient, 11 cases (22.9%) were MRC IV deficient, and one case (2.1%) had combined MRC I and IV deficiencies. (2) In our clinical diagnosis, there were 10 cases (20.8%) with Leigh disease and one case each with myopathy, encephalopathy, lactic acidosis, stroke‐like episodes (MELAS) or Alpers' disease (2.1%). Most of the remaining cases (75.0%) had uncategorized mitochondrial cytopathy with nonspecific encephalopathy. (3) For epileptic classification, there were two cases (4.2%) of Ohtahara syndrome, 10 cases (20.8%) of West syndrome, 12 cases (25.0%) of Lennox‐Gastaut syndrome, two cases (4.2%) of Landau‐Kleffner syndrome, 14 cases (29.2%) of generalized epilepsy, and eight cases (16.7%) of partial epilepsy. (4) The mean age of seizure onset was 2.68 ± 2.21 (range: 1 month – 5.5 years). (5) Magnetic resonance imaging (MRI) showed diffuse cortical atrophy in 34 cases (70.8%), basal ganglia signal changes in 18 cases (37.5%) and thalamus signal changes in 12 cases (25.0%). (6) A ketogenic diet produced clinical improvements, including seizure reduction and global functional improvement in 75% of 24 patients.Conclusions: MRC defects are one of the important causes of probably symptomatic childhood epilepsy. A ketogenic diet should be carefully considered for treatment of intractable epilepsy related to MRC defects.