Clinical and Laboratory Features of Children with Mitochondrial Respiratory Chain Enzyme Complexes Defect and Neurological Abnormalities: A case report
Journal of the Korean Academy of Rehabilitation Medicine
;
: 118-122, 2009.
Artigo
em Coreano
| WPRIM
| ID: wpr-722735
ABSTRACT
Mitochondrial cytopathies represent a heterogeneous group of multisystem disorder that preferentially affects the muscle and nervous systems. Mitochondrial respiratory chain enzyme complexes (MRC) defect can be the cause of many unexplained neurological disorders including epilepsy, cerebral palsy, delayed development and hypotonia. We retrospectively reviewed clinical and laboratory features of 16 patients who showed defects in MRC activity, confirmed by biochemical assay from spectrophotometry in muscles to characterize clinical and laboratory features for MRC defects and provide more precise diagnosis and effective treatments. In the patients with uncontrolled seizure activity, developmental regression, characteristic features of bilateral symmetric high signal intensity at deep nucleus and/or white matter in T2WI, the mitochondrial cytopathies should be added to the list of differential diagnoses. And lactate elevation in magnetic resonance spectroscopy (MRS) can be useful in the diagnosis of mitochondrial cytopathies.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Convulsões
/
Espectrofotometria
/
Espectroscopia de Ressonância Magnética
/
Paralisia Cerebral
/
Síndrome de Kearns-Sayre
/
Estudos Retrospectivos
/
Miopatias Mitocondriais
/
Ácido Láctico
/
Diagnóstico Diferencial
/
Transporte de Elétrons
Tipo de estudo:
Estudo diagnóstico
/
Estudo observacional
Limite:
Criança
/
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Academy of Rehabilitation Medicine
Ano de publicação:
2009
Tipo de documento:
Artigo
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