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Case Reports
. 2019 Jun 26;7(12):1456-1460.
doi: 10.12998/wjcc.v7.i12.1456.

Cirrhosis complicating Shwachman-Diamond syndrome: A case report

Sandra M Camacho  1 , Lucille McLoughlin  2 , Michael J Nowicki  3
Affiliations
Case Reports

Cirrhosis complicating Shwachman-Diamond syndrome: A case report

Sandra M Camacho et al. World J Clin Cases. .

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.

Keywords: Case report; Cirrhosis; Liver dysfunction; Shwachman-Diamond syndrome.

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Conflict of interest statement

Conflict-of-interest statement: The authors have no conflicts of interest to declare.

Figures

Figure 1
Figure 1
Changes in alanine aminotransferase levels with age. Alanine aminotransferase levels over time (expressed as fold-increase above upper limit of normal).
See this image and copyright information in PMC

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