[Optic disc drusen in alagille syndrome]

ABSTRACT

Alagille syndrome [AS] is one of the six forms of familial intrahepatic cholestasis, [AS] signs were neonatal jaundice and paucity of intrahepatic bile ducts. The ophthalmic features distinguish AS from the other forms of familial intrahepatic cholestasis. Posterior embrytoxon is the most common ophthalmic sign associated with this syndrome. We report a case of five months old boy that was suspected to have AS based on the association of jaundice, facial and skeletal abnormalities. Ocular examination revealed slightly elevated optic disc with irregular borders in both eyes. There was evidence of optic disc drusen in ocular B scan ultrasound in both eyes. Ocular ultrasound is a useful tool in the diagnosis of AS particularly in the cases which embrytoxon is absent or difficult to detect [young children]