Clinical and Laboratorial Characteristics of Korean Children with Mitochondrial Respiratory Chain Defect / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 207-214, 2006.
Artigo
em Inglês
| WPRIM
| ID: wpr-163801
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Atrofia
/
Espectrofotometria
/
Gânglios da Base
/
Encéfalo
/
Imageamento por Ressonância Magnética
/
Doença de Leigh
/
Esclerose Cerebral Difusa de Schilder
/
Síndrome de Kearns-Sayre
/
Estudos Retrospectivos
/
Síndrome MELAS
Tipo de estudo:
Estudo observacional
Limite:
Criança
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of the Korean Child Neurology Society
Ano de publicação:
2006
Tipo de documento:
Artigo
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