Priya Lakshmi,  Illimoottil Mathew,  Errampalli Eric,  Kosaraju Sriya,  Orscheln Emily

Final Pr. ID: Poster #: EDU-085

Metachromatic leukodystrophy is an autosomal recessive lysosomal storage disorder that primarily affects the white matter tracts of the central nervous system. This occurs due to the build up of sulfatides, which leads to demyelinating disease in the brain. On T2 weighted MR imaging, this disorder often exhibits hyperintense periventricular white matter sparing of the subcortical U-fibers. One may also see hypointense stripes and dots within the affected areas. This is commonly referred to as the tigroid or leopard pattern and is a result of peri-vascular sparing. Other features include low signal on T1 weighted images and typically no enhancement on contrast-enhanced T1 weighted images. Metachromatic leukodystrophy can also lead to sulfatide buildup in organs outside the central nervous system, such as the gallbladder, and lead to gallbladder polyposis. This educational exhibit will provide a comprehensive review of the imaging features of metachromatic leukodystrophy, discuss the clinical categorization, and will highlight some of the most common differential diagnoses. Read More

Authors:  Priya Lakshmi , Illimoottil Mathew , Errampalli Eric , Kosaraju Sriya , Orscheln Emily

Keywords:  Metachromatic leukodystrophy

Richards Morgan,  Riedesel Erica,  Richer Edward

Final Pr. ID: Poster #: CR-009

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. Read More

Authors:  Richards Morgan , Riedesel Erica , Richer Edward

Keywords:  Metachromatic Leukodystrophy, Gallbladder, Hemobilia