Acute liver failure in a seven-week-old infant with galactosaemia: Case report

Abstract

Galactosaemia is a rare metabolic disorder that presents in early infancy and affects multiple organs and systems and is potentially fatal if undetected early. We present a case of a seven week old male infant with jaundice from birth who presented with abdominal distension and feeding difficulties. He was ill looking at admission with moderate pallor, jaundice, hepatosplenomegaly and ascites. Investigations revealed anaemia, coagulopathy and deranged liver enzymes. A limited work up for cholestatic liver disease was suggestive of galactosaemia and the patient improved remarkably on institution of a galactose free diet.