Two Cases of Leigh Disease
Journal of the Korean Pediatric Society
;
: 405-409, 1998.
Artigo
em Coreano
| WPRIM
| ID: wpr-191335
ABSTRACT
Leigh Disease, or subacute necrotizing encephalopathy (SNE), is a degenerative disorder characterized by lesions of the gray and white matter in the bran and spinal cord. The pathogenesis was known as mitochondrial enzyme defect of the respiratory chain system. We experienced 2 cases of Leigh disease. The first case, a seven-month old girl who was presented with weak respiration and failure to thrive, showed lactic acidemia and increased lactic acid in CSF fluid, high signal intensity in the bilateral putamen and head of caudate of nucleus at T2 weighted MR imaging. The second case, a 3-year-old girl with ataxic gait and bilateral ptosis also showed lactic acidemia, increased lactic acid in CSF fluid and high signal intensity in the bilateral basal ganglia. Respiratory difficuly developed in both cases and died within 1 month after visiting our hospital. The diagnosis was made by lactic acidosis and specific MRI finding. We report these cases with a brief review of its related literature.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Putamen
/
Respiração
/
Medula Espinal
/
Gânglios da Base
/
Acidose Láctica
/
Imageamento por Ressonância Magnética
/
Doença de Leigh
/
Ácido Láctico
/
Diagnóstico
/
Transporte de Elétrons
Tipo de estudo:
Estudo diagnóstico
Limite:
Criança, pré-escolar
/
Feminino
/
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Pediatric Society
Ano de publicação:
1998
Tipo de documento:
Artigo
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