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. 2010 May 5:4:128.
doi: 10.1186/1752-1947-4-128.

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 , Ignatius Losa
Affiliations

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 et al. J Med Case Rep. .

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.

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Figures

Figure 1
Figure 1
Coronal section of the gadolinium-enhanced MRI scan of the liver and portal system. The image shows a thready portal vein (arrow) with collateral vessels involving both left and right portal veins.
Figure 2
Figure 2
Thready portal vein with prominent collaterals seen in the coronal section of the gadolinium-enhanced MRI scan.
See this image and copyright information in PMC

References

    1. Czeizel A, Lundanyl I. VACTERL-association. Acta Morphol Hung. 1984;32(2):75–96. - PubMed
    1. Sanyal AJ, Shah VH. (Book review: N Engl J Med) 24. Vol. 353. Totowa, NJ: Humana Press; 2005. Portal Hypertension: Pathobiology, Evaluation, and Treatment.
    1. De Jong EM, Felix JF, Deurloo JA, van Dooren MF, Aronson DC, Torfs CP, Heij HA, Tibboel D. Non-VACTERL-type anomalies are frequent in patients with esophageal atresia/tracheo-esophageal fistula and full or partial VACTERL association. Birth Defects Res Part A Clin Mol Teratol. 2008;82(2):92–97. doi: 10.1002/bdra.20437. - DOI - PubMed
    1. Ando H, Kaneko K, Ito F, Seo T, Watanabe Y, Ito T. Anatomy and etiology of extrahepatic portal vein obstruction in children leading to oesophageal varices. J Am Coll Surg. 1996;183(6):543–547. - PubMed
    1. Shaw-Smith C. Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology. J Med Genet. 2006;43(7):545–554. doi: 10.1136/jmg.2005.038158. - DOI - PMC - PubMed

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