Leigh syndrome with Fukuyama congenital muscular dystrophy: a case report.
Brain Dev
; 36(8): 730-3, 2014 Sep.
Article
en En
| MEDLINE
| ID: mdl-24113355
ABSTRACT
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedad de Leigh
/
Síndrome de Walker-Warburg
Límite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Brain Dev
Año:
2014
Tipo del documento:
Article