Dealing with congenital hepatic fibrosis? Remember COACH syndrome.
Clin J Gastroenterol
; 7(1): 48-51, 2014 Feb.
Article
em En
| MEDLINE
| ID: mdl-26183508
ABSTRACT
Coach Syndrome is a rare cause of Congenital Hepatic Fibrosis associated with neurological features. COACH is a mnemonic comprising of Cerebellar vermis hypo/aplasia, Oligophrenia (developmental delay/mental retardation), Ataxia, Coloboma and Hepatic fibrosis. Here we describe a 12 years boy who presented with hepatic encephalopathy. He was subsequently found to have marked developmental delay, bilateral ptosis and ataxia. CT scan revealed brain stem molar tooth sign, ophthalmoscopy showed optic disc coloboma and elastography showed hepatic fibrosis to confirm him as a case of COACH Syndrome.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Ataxia
/
Anormalidades Múltiplas
/
Encéfalo
/
Coloboma
/
Colestase
/
Doenças Genéticas Inatas
/
Cirrose Hepática
/
Hepatopatias
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Clin J Gastroenterol
Ano de publicação:
2014
Tipo de documento:
Article