Clinical and Laboratorial Characteristics of Korean Children with Mitochondrial Respiratory Chain Defect / 대한소아신경학회지
Journal of the Korean Child Neurology Society
; (4): 207-214, 2006.
Article
in English
| WPRIM (Western Pacific)
| ID: wpr-163801
Responsible library:
WPRO
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 1.151. 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.
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Atrophy
/
Spectrophotometry
/
Basal Ganglia
/
Brain
/
Magnetic Resonance Imaging
/
Leigh Disease
/
Diffuse Cerebral Sclerosis of Schilder
/
Kearns-Sayre Syndrome
/
Retrospective Studies
/
MELAS Syndrome
Type of study:
Observational study
Limits:
Child
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
English
Journal:
Journal of the Korean Child Neurology Society
Year:
2006
Document type:
Article