Clinical and Laboratorial Characteristics of Korean Children with Mitochondrial Respiratory Chain Defect.
- Author:
Byoung Ho NOH
1
;
Young Mock LEE
;
Joo Hee SEO
;
Yun Jung HUR
;
Da Eun JUNG
;
Joon Soo LEE
;
Heung Dong KIM
Author Information
1. Department of Pediatrics, Institute for Handicapped Children, Severance Children's Hospital Yonsei University College of Medicine, Seoul, Korea. hdkimmd@yumc.yonsei.ac.kr
- Publication Type:Original Article
- Keywords:
Mitochondrial Respiratory Chain Defect;
Respiratory chain deficiency;
MRC;
Epilepsy;
v
- MeSH:
Atrophy;
Basal Ganglia;
Brain;
Child*;
Diffuse Cerebral Sclerosis of Schilder;
Electron Transport*;
Epilepsy;
Female;
Humans;
Kearns-Sayre Syndrome;
Korea;
Leigh Disease;
Magnetic Resonance Imaging;
Male;
MELAS Syndrome;
Mitochondrial Diseases;
Retrospective Studies;
Spectrophotometry
- From:
Journal of the Korean Child Neurology Society
2006;14(2):207-214
- CountryRepublic of Korea
- Language:English
-
Abstract:
PURPOSE:The study was carried out to characterized the clinical and the laboratorial features of children with mitochondrial respiratoy chain disorders in Korea. METHODS:We retrospectively analyzed the clinical and the loboratorial data of 28 children with significantly low activities in respiratory chain complexes of muscle using spectrophotometry. RESULTS:The mean age was 6.67+/-4.44 years and the ratio males to female was 1.15:1. Eighteen patients (64.3%) showed defects in Complex I, 8 (28.6%) in Complex VI, 1 (3.6%) in Complex II, and 1 in Complex I and IV. Eight cases (28.6%) were diagnosed with Leigh disease, one with MELAS, Kearns-Sayre syndrome, and Alpers disease retrospectively, but the predominant clinical presentations were a nonspecific encephalopathy (17/28, 60.7%). Epilepsy was seen in 21 (75.0%) patients, while developmental delay in 27 (96.4%) patients. Fifteen out of 28 children (53.6%), clinical symptoms mostly appeared below age of 1 year. The brain MRI showed diffuse cortical atrophy in 18 (64.3%) patients and basal ganglia signal changes in 12 (42.9%) patients. CONCLUSION:The defects in mitochondrial respiratory chain complexes should be considered in any children with an unexplained neurological condition including even epilepsy.
