Repeated upper gastrointestinal hemorrhage caused by metachromatic leukodystrophy of the gall bladder

A 27-year-old man with metachromatic leukodystrophy (MLD) of the adult type had developed repeated severe gastrointestinal (GI) bleeding. During endoscopic retrograde cholangiography (ERC), hemobilia was observed on two occasions. The definite diagnosis was obtained by a biopsy specimen taken from the lumen of the gall bladder during ERC, demonstrating large masses of metachromatic material inside the gall bladder. Upon cholecystectomy, papillomatosis of the gall bladder was found virtually obliterating the lumen of the gall bladder. A blood clot was observed at the angle of the cystic duct; histologic examination revealed diffuse hemorrhage into the stroma of the gall bladder. The patient is without upper GI hemorrhage since 3 years. In patients with MLD and upper GI bleeding, one should, therefore, be aware of the gall bladder as a possible source of hemorrhage.