A Familial Case of Leigh Disease / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 147-152, 1997.
Artigo
em Coreano
| WPRIM
| ID: wpr-57170
ABSTRACT
In two female siblings, growth and developmental retardation, poor sucking, anorexia, floppiness and respiratory difficulty developed around 2 and 4 monthes of age in each, and the respiratory symptoms rapidly aggravated to comatose states and finally into death one month later. On admission at emergency room, severe acidosis and high lactate and pyruvate levels in serum and cerebrospinal fluid were revealed in one. Brain computed tomography and magnetic resonance imaging revealed identical bilateral involvement of putamen in both of the sibs, which made the diagnosis of Leigh disease(subacute necrotizing encephalomyelopathy) possible. There is also a family history of early death in infancy period; an elder sister and a brother of mother died with unknown cause at their 5 and 10 months of age. Mitochondrial enzyme functions could not be assayed.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Putamen
/
Acidose
/
Encéfalo
/
Imageamento por Ressonância Magnética
/
Anorexia
/
Doença de Leigh
/
Líquido Cefalorraquidiano
/
Coma
/
Ácido Láctico
/
Ácido Pirúvico
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Child Neurology Society
Ano de publicação:
1997
Tipo de documento:
Artigo
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