Ahlstrom's Syndrome with Type IV Choledochal Cyst.

ABSTRACT

Ahlstrom's syndrome is an autosomal recessive, single gene disorder with multisystem involvement with cone-rod retinal dystrophy leading to juvenile blindness, sensorineural hearing loss, obesity, insulin resistance and type 2 Diabetes mellitus. The other less common involvements may severely affect the prognosis and survival and include endocrine abnormalities, dilated cardiomyopathy(DCM) , pulmonary fibrosis and restrictive lung disease, progressive hepatic and renal failure.Apart from its typical, well known clinical features, hepatic & biliary involvement should be kept in mind. Though not known in literature, the biliary tract abnormalities might not be so uncommon. A routine MRCP in a child of AS with typical or atypical biliary tract involvement is thus advisable.