Unusual gallbladder findings in two brothers with metachromatic leukodystrophy

Characteristic biliary tree abnormalities in metachromatic leukodystrophy (MLD) include gallbladder polyposis and haemobilia. We report two brothers with MLD, who presented with uncommon biliary complications. One presented with gastric outlet obstruction secondary to gallbladder enlargement, which was treated by percutaneous aspiration. He later developed gallbladder carcinoma with liver metastases. His brother demonstrated US findings consistent with gallstones.