| Clinical and Laboratorial Characteristics of Korean Children with Mitochondrial Respiratory Chain Defect. |
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Byoung Ho Noh, Young Mock Lee, Joo Hee Seo, Yun Jung Hur, Da Eun Jung, Joon Soo Lee, Heung Dong Kim |
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Department of Pediatrics, Institute for Handicapped Children, Severance Children's Hospital Yonsei University College of Medicine, Seoul, Korea. hdkimmd@yumc.yonsei.ac.kr |
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| 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. |
| Key Words:
Mitochondrial Respiratory Chain Defect, Respiratory chain deficiency, MRC, Epilepsy, v |
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