Leigh syndrome with Fukuyama congenital muscular dystrophy: a case report.
Brain Dev
; 36(8): 730-3, 2014 Sep.
Article
em En
| MEDLINE
| ID: mdl-24113355
We report the first case of Leigh syndrome (LS) with Fukuyama congenital muscular dystrophy (FCMD). A neonate suffered from lactic acidosis and subsequently presented with poor feeding, muscle weakness, hypotonia, cardiopulmonary dysfunction, and hydrocephalus. He died at 17 months. The findings of brain magnetic resonance imaging indicated some specific features of both LS and FCMD, and FCMD gene mutation was detected. Decreased mitochondrial respiratory complex I and II activity was noted. Mitochondrial DNA sequencing showed no pathogenic mutation. A case with complex I+II deficiency has rarely been reported, suggesting a nuclear gene mutation.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Leigh
/
Síndrome de Walker-Warburg
Limite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Brain Dev
Ano de publicação:
2014
Tipo de documento:
Article