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.
|
Authors | B C Acharyya, M K Goenka, S Chatterjee, U Goenka |
Journal | Clinical journal of gastroenterology
(Clin J Gastroenterol)
Vol. 7
Issue 1
Pg. 48-51
(Feb 2014)
ISSN: 1865-7265 [Electronic] Japan |
PMID | 26183508
(Publication Type: Case Reports, Journal Article)
|
Topics |
- Abnormalities, Multiple
(diagnosis)
- Ataxia
(diagnosis)
- Brain
(abnormalities)
- Child
- Cholestasis
(diagnosis)
- Coloboma
(diagnosis)
- Diagnosis, Differential
- Genetic Diseases, Inborn
(diagnosis)
- Humans
- Liver Cirrhosis
(diagnosis)
- Liver Diseases
(diagnosis)
- Male
|