Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: VACTERL (vertebral anomalies, anal atresia or imperforate anus, cardiac anomalies, tracheoesophageal fistula, renal and limb defect) spectrum presenting with portal hypertension: a case report | Bhurtel and Losa Journal of Medical Case Reports 2010 4 128 http content 4 1 128 jA CASE REPORTS CASE REPORT Open Access VACTERL vertebral anomalies anal atresia or imperforate anus cardiac anomalies tracheoesophageal fistula renal and limb defect spectrum presenting with portal hypertension a case report Dilli Raj Bhurtel 1 and Ignatius Losa2 Abstract Introduction 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. Case Presentation A two-and-half-year-old Caucasian girl with VACTERL spectrum presented with hematemesis and abdominal distension. She had caput medusae 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. Conclusion 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. Introduction The clinical manifestation of VACTERL association includes vertebral anomalies anal atresia congenital heart disease tracheoesophageal fistula renal .
