| Summary: | <p>Abstract</p> <p>Introduction</p> <p>We report for the first time a unique case of VACTERL (vertebral anomalies, anal atresia or imperforate anus, cardiac anomalies, tracheoesophageal fistula, renal and limb defect) spectrum associated with portal hypertension. The occurrence of both VACTERL spectrum and extrahepatic portal hypertension in a patient has not been reported in the literature. We examined whether or not there was any association between extrahepatic portal hypertension and VACTERL spectrum.</p> <p>Case Presentation</p> <p>A two-and-half-year-old Caucasian girl with VACTERL spectrum presented with hematemesis and abdominal distension. She had <it>caput medusae</it>, ascites, splenomegaly, gastric and esophageal varices. Her liver function tests were within normal limits. Magnetic resonance imaging of the liver with contrast showed a thready portal vein with collateral vessels involving both right and left portal veins without intrahepatic duct dilation.</p> <p>Conclusion</p> <p>A thready portal vein, with features of extrahepatic portal hypertension, is a rare non- VACTERL-type defect in patients with VACTERL spectrum. Understandably, clinicians should give low priority to looking for portal hypertension in VACTERL spectrum patients presenting with gastrointestinal bleeding. However before routinely looking for a thready portal vein and/or extrahepatic portal hypertension in asymptomatic VACTERL spectrum patients, we need further evidence to support this rare association.</p>
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