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 affectsmultiple organs and systems and is potentially fatal if undetected early. We presenta case of a seven week old male infant with jaundice from birth who presented withabdominal distension and feeding difficulties. He was ill looking at admission withmoderate pallor, jaundice, hepatosplenomegaly and ascites. Investigations revealedanaemia, coagulopathy and deranged liver enzymes. A limited work up for cholestaticliver disease was suggestive of galactosaemia and the patient improved remarkablyon institution of a galactose free diet.