Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption.
Neuropediatrics
; 36(3): 193-9, 2005 Jun.
Article
em En
| MEDLINE
| ID: mdl-15944905
ABSTRACT
Cerebral developmental abnormalities occur in various inborn errors of metabolism including peroxisomal deficiencies, pyruvate dehydrogenase complex deficiency and others. Associations with abnormalities of the respiratory chain are rare. Here we report male and female siblings with microcephaly, a complex neuromigrational disorder including ependymal cysts, leptomeningeal and subcortical heterotopia, polymicrogyria, multifocal cerebral calcifications, agenesis of the corpus callosum, and spongiform changes in brainstem and cerebellum. Intractable lactic acidosis, causing death on the first day of life, was associated with severely reduced activities of complex I and complex IV. The neuropathological and biochemical findings are closely similar to those reported previously. The findings confirm a distinct genetic syndrome of disrupted brain development with TORCH-like calcifications, and a complex neuronal migration disorder associated with a multicomplex disorder of the respiratory chain.
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Coleções:
01-internacional
Temas:
Geral
Base de dados:
MEDLINE
Assunto principal:
Acidose Láctica
/
Encéfalo
/
Deficiência de Citocromo-c Oxidase
/
Complexo I de Transporte de Elétrons
Limite:
Female
/
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Neuropediatrics
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
Holanda