Camacho SM, McLoughlin L, Nowicki MJ. Cirrhosis complicating Shwachman-Diamond syndrome: A case report. World J Clin Cases 2019; 7(12): 1456-1460 [PMID: 31363473 DOI: 10.12998/wjcc.v7.i12.1456]
Corresponding Author of This Article
Michael J Nowicki, MD, Professor, Division of Pediatric Gastroenterology, University of Mississippi Medical Center, 2500 North State Street, Jackson, MS 39216, United States. mnowicki@umc.edu
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/
World J Clin Cases. Jun 26, 2019; 7(12): 1456-1460 Published online Jun 26, 2019. doi: 10.12998/wjcc.v7.i12.1456
Cirrhosis complicating Shwachman-Diamond syndrome: A case report
Sandra M Camacho, Lucille McLoughlin, Michael J Nowicki
Sandra M Camacho, Michael J Nowicki, Division of Pediatric Gastroenterology, University of Mississippi Medical Center, Jackson, MS 39216, United States
Sandra M Camacho, Lucille McLoughlin, Division of Pediatric Gastroenterology, Children’s Hospital of San Antonio, San Antonio, TX 78207, United States
Author contributions: Camacho SM wrote the case report portion and edited the final manuscript; McLoughlin L reviewed and edited the final manuscript; Nowicki MJ wrote the discussion portion and reviewed and edited the final manuscript.
Informed consent statement: Informed consent was given by the parents.
Conflict-of-interest statement: None of the authors have any conflict of interest to report.
Open-Access: 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/
Corresponding author: Michael J Nowicki, MD, Professor, Division of Pediatric Gastroenterology, University of Mississippi Medical Center, 2500 North State Street, Jackson, MS 39216, United States. mnowicki@umc.edu
Telephone: +1-601-9845294 Fax: +1-601-8151053
Received: January 25, 2019 Peer-review started: January 25, 2019 First decision: March 14, 2019 Revised: April 11, 2019 Accepted: May 2, 2019 Article in press: May 3, 2019 Published online: June 26, 2019
Abstract
BACKGROUND
The features of Shwachman-Diamond syndrome (SDS) include exocrine pancreatic insufficiency, skeletal abnormalities and bone marrow dysfunction; an often overlooked feature is hepatic involvement.
CASE SUMMARY
We report a child who initially presented with failure to thrive and mildly elevated transaminase levels and was determined to have pancreatic insufficiency due to SDS. During follow-up he had persistently elevated transaminase levels and developed hepatosplenomegaly. An investigation was performed to determine the etiology of ongoing liver injury, including a liver biopsy which revealed hepatic cirrhosis.
CONCLUSION
Cirrhosis has rarely been reported with SDS. While many of the hepatic disorders associated with SDS improve with age, there are rare exceptions with serious implications for long-term outcome.
Core tip: Shwachman-Diamond syndrome (SDS) is an uncommon disorder characterized by skeletal abnormalities, bone marrow dysfunction and exocrine pancreatic insufficiency (EPI); a rarely reported complication is hepatic cirrhosis. Similar to the natural history of EPI, most of the hepatic abnormalities associated with SDS improve or resolve with age. We report this patient to highlight the importance of close follow-up of patients with SDS and hepatic dysfunction as some will progress to cirrhosis, which portends a less favorable prognosis.
