Sood V, Khanna R, Alam S, Rawat D, Bhatnagar S, Rastogi A. Ductal paucity and Warkany syndrome in a patient with congenital extrahepatic portocaval shunt. World J Hepatol 2014; 6(5): 358-362 [PMID: 24868329 DOI: 10.4254/wjh.v6.i5.358]
Corresponding Author of This Article
Dr. Rajeev Khanna, MD, Assistant Professor, Departments of Pediatric Hepatology, Radiology and Pathology, Institute of Liver and Biliary Sciences, D-1, Vasant Kunj, New Delhi 110070, India. drrajeev_khanna@rediffmail.com
Research Domain of This Article
Gastroenterology & Hepatology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Vikrant Sood, Rajeev Khanna, Seema Alam, Dinesh Rawat, Shorav Bhatnagar, Archana Rastogi, Departments of Pediatric Hepatology, Radiology and Pathology, Institute of Liver and Biliary Sciences, New Delhi 110070, India
Author contributions: Sood V and Khanna R contributed equally in compiling clinical and laboratory information and writing the full manuscript; Alam S and Rawat D helped in editing and revision; Bhatnagar S provided the radiologic information; Rastogi A provided the pathological details; and Khanna R drafted the article.
Correspondence to: Dr. Rajeev Khanna, MD, Assistant Professor, Departments of Pediatric Hepatology, Radiology and Pathology, Institute of Liver and Biliary Sciences, D-1, Vasant Kunj, New Delhi 110070, India. drrajeev_khanna@rediffmail.com
Telephone: +91-96542-46963 Fax: +91-96542-46963
Received: November 14, 2013 Revised: January 9, 2014 Accepted: March 17, 2014 Published online: May 27, 2014
Abstract
An eleven-year-old clinically dysmorphic and developmentally retarded male child presenting with complaints of 5 episodes of recurrent cholestatic jaundice since 3 years of age was evaluated. Imaging revealed features consistent with congenital extrahepatic portocaval shunt (Abernethy type 1b), multiple regenerative liver nodules and intrahepatic biliary radical dilatation. The presence of ductal paucity and trisomy 8 were confirmed on liver biopsy and karyotyping. The explanation for unusual and previously unreported features in the present case has been proposed.
Core tip: This study highlights the association between the congenital extrahepatic portocaval shunt with hepatic ductal paucity and trisomy 8 for the first time in the world literature. Although the exact pathophysiology remains uncertain, plausible explanations are proposed.
