J Korean Child Neurol Soc.  2006 Nov;14(2):207-214.

Clinical and Laboratorial Characteristics of Korean Children with Mitochondrial Respiratory Chain Defect

• Noh BH
• Lee YM
• Seo JH
• Hur YJ
• Jung DE
• Lee JS
• Kim HD

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.

Keyword

Mitochondrial Respiratory Chain Defect; Respiratory chain deficiency; MRC; Epilepsy; v

MeSH Terms

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