Purpose or Case Report: 5 yo male with PMHx significant only for autism presented to ED with acute abdominal pain, hematemesis, and melena. Patient was tachycardic but normotensive with Hgb 5.6 g/dL (normal 11.5 – 13.5 g/dL) requiring transfusion. Patient was also jaundiced with scleral icterus, markedly elevated liver enzymes, and direct hyperbilirubinemia. Abdominal X-ray and Abdominal US did not demonstrate significant bowel pathology. However, gallbladder was abnormal with thickened, hyperemic wall and abundant internal debris. Common bile duct was massively dilated to the level of ampulla and filled with heterogeneous, avascular debris. No cholelithiasis or mass was demonstrated. Based on US, a differential diagnosis of cholecystitis, cholangitis, or choledochal cyst complicated by hemobilia was offered. MRI demonstrated dilated central intrahepatic and extrahepatic bile ducts containing layering T1 bright, T2 dark material. On arterial post-contrast images, the right hepatic artery was immediately adjacent to dilated common hepatic duct and blush of enhancement was seen concerning for active hemorrhage into type 4b choledochal cyst. The patient proceeded to diagnostic angiography, which was unable to demonstrate a site of arterial bleeding. Biliary drain was placed across the choledochal cyst with initial drainage of bloody material followed by drainage of bile. Patient subsequently underwent open cholecystectomy. Pathology demonstrated "mucinous papillary proliferation with increased histiocytes in lamina propria, consistent with gallbladder changes in Metachromatic Leukodystrophy (MDL)." Subsequent brain MRI demonstrated classic findings of MDL.
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Conclusions: Hemobilia is a rare finding in children and most commonly seen in the setting of trauma, such as hepatic laceration with subsequent bleeding into the biliary tree. Non-traumatic causes of hemobilia have been described, most commonly infection, underlying biliary abnormalities, or bleeding disorders. Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder that results in accumulation of sulfated glycosphingolipids in the brain, peripheral nerves, and other organs including the gallbladder. Various case reports have described gallbladder polyposis in MLD including 4 cases associated with massive, life-threatening hemobilia. Thus, hemorrhagic cholecystitis in the setting of MLD should be considered in the differential diagnosis of non-traumatic hemobilia.