JPGN Reports · 9 authors, 4 centres
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A 5-year-old boy with unrecognized developmental regression presented with massive upper gastrointestinal bleeding from hemobilia caused by extensive gallbladder polyposis, which led to the new diagnosis of metachromatic leukodystrophy. Laparoscopic cholecystectomy confirmed extensive gallbladder polyps with histological and ultrastructural evidence of sulfatide accumulation consistent with MLD.
This case report describes a 5-year-old male with a presumed diagnosis of autism who presented with acute hematemesis and melena. Laboratory evaluation revealed anemia with hemoglobin 6.9 g/dL, elevated transaminases, and direct hyperbilirubinemia. Abdominal ultrasound showed gallbladder wall thickening and bile duct dilatation. MRCP and angiography suggested a possible choledochal cyst with erosion into the common hepatic artery. A percutaneous transhepatic biliary drain was placed to tamponade bleeding, with subsequent clinical improvement over 72 hours. Additional history revealed developmental regression over 4 months, prompting neurology consultation. Cholecystectomy revealed extensive elongated gallbladder polyps with histology showing sulfatide-laden histiocytes. The patient was discharged with multidisciplinary follow-up. This is among the first reported cases where massive gastrointestinal bleeding led to a new diagnosis of previously unrecognized MLD.
