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Cirrhosis Complicating Shwachman-Diamond Syndrome: A Case Report

Overview
Journal World J Clin Cases
Publisher Baishideng Publishing Group
Specialty General Medicine
Date 2019 Aug 1
PMID 31363473
Citations 6
Authors
Sandra M Camacho
Lucille McLoughlin
Michael J Nowicki
Affiliations
Soon will be listed here.
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.

Citing Articles

Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature.

Veltra D, Marinakis N, Kotsios I, Delaporta P, Kekou K, Kosma K Children (Basel). 2024; 11(6).

PMID: 38929284 PMC: 11201973. DOI: 10.3390/children11060705.

Shwachman-Diamond syndrome mimicking mitochondrial hepatopathy.

Kaufman O, Donnelly C, Cork E, Fiel M, Chu J, Ganesh J JPGN Rep. 2024; 5(2):213-217.

PMID: 38756125 PMC: 11093899. DOI: 10.1002/jpr3.12064.

Posttransplant complications in patients with marrow failure syndromes: are we improving long-term outcomes?.

Hudda Z, Myers K Hematology Am Soc Hematol Educ Program. 2023; 2023(1):141-148.

PMID: 38066882 PMC: 10727016. DOI: 10.1182/hematology.2023000471.

An Unusual Presentation of Extremely Early Neonatal Cirrhosis in Shwachman-Diamond Syndrome: A Case Report.

Reddy T, Kotha Sr R, M A Cureus. 2023; 15(5):e38583.

PMID: 37288222 PMC: 10241746. DOI: 10.7759/cureus.38583.

Two mutations in the gene reveal a diagnosis of Shwachman-Diamond syndrome in a patient with atypical symptoms.

Spangenberg M, Grille S, Simoes C, DellOca N, Boada M, Guillermo C Cold Spring Harb Mol Case Stud. 2022; 8(7).

PMID: 36577524 PMC: 9808556. DOI: 10.1101/mcs.a006237.

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