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.