Moyamoya vascular pattern in Alagille syndrome.
Pediatr Neurol
; 47(2): 125-8, 2012 Aug.
Article
em En
| MEDLINE
| ID: mdl-22759690
ABSTRACT
We describe a girl with Alagille syndrome and a moyamoya angiographic pattern on magnetic resonance angiography. She was referred for genetic consultation because of posterior embryotoxon and peripheral pulmonary stenosis. Her facial appearance was typical, but she had no cholestasis or vertebral involvement. A heterozygous duplication of one nucleotide (a c.715dupA mutation) not previously described was identified in exon 5 of the JAG1 gene. We review similar cases in the literature and possible pathophysiologic mechanisms (e.g., the Jagged 1 and Notch signaling pathway) of this association.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Alagille
/
Doença de Moyamoya
Tipo de estudo:
Prognostic_studies
Limite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
Pediatr Neurol
Assunto da revista:
NEUROLOGIA
/
PEDIATRIA
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
Portugal