Adult presentation of Shwachman-Diamond syndrome complicated by liver cirrhosis and pancreatic fat infiltration: A case report

doi:10.4254/wjh.v17.i6.108558

Advanced Search

BPG is committed to discovery and dissemination of knowledge

Home / Archive / Volume 17, Issue 6

This Article

Academic Content and Language Evaluation of This Article

CrossCheck and Google Search of This Article

Academic Rules and Norms of This Article

Citation of this article

Corresponding Author of This Article

Research Domain of This Article

Article-Type of This Article

Open-Access Policy of This Article

Times Cited Counts in Google of This Article

Number of Hits and Downloads for This Article

Total Article Views (2)

All Articles published online

The chart showing PDF series, HTML series, Figures (1-2) series.

Item

Count

PDF

HTML

Figures (1-2)

Sum=2

Jun 27, 2025 (publication date) through Jun 25, 2025

Times Cited of This Article

Times Cited (0)

Journal Information of This Article

Publication Name

World Journal of Hepatology

ISSN

1948-5182

Publisher of This Article

Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

Case Report

World J Hepatol. Jun 27, 2025; 17(6): 108558
Published online Jun 27, 2025. doi: 10.4254/wjh.v17.i6.108558

Adult presentation of Shwachman-Diamond syndrome complicated by liver cirrhosis and pancreatic fat infiltration: A case report

Hai-Jun Guo

Hai-Jun Guo, Department of Hepatic, Xingtai People's Hospital, Xingtai 054001, Hebei Province, China

Author contributions: Guo HJ contributed to manuscript writing and editing, data collection, read and approved the final version of the manuscript to be published.

Informed consent statement: Informed consent was obtained from the patient for the publication of this case report and the accompanying images. All data were anonymized to ensure the protection of patient privacy.

Conflict-of-interest statement: All authors declare no conflicts of interest related to this work.

CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).

Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (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: https://creativecommons.org/Licenses/by-nc/4.0/

Corresponding author: Hai-Jun Guo, Associate Chief Physician, Deputy Director, Department of Hepatic, Xingtai People's Hospital, No. 16 Hongxing Street, Xingtai 054001, Hebei Province, China. 18631966153@163.com

Received: April 17, 2025
Revised: May 13, 2025
Accepted: May 29, 2025
Published online: June 27, 2025
Processing time: 69 Days and 4.2 Hours

Core Tip

Core Tip: Shwachman-Diamond syndrome (SDS) frequently results in abnormal liver function and hepatomegaly during infancy and early childhood. However, adult liver pathologies caused by SDS are rare. We present a unique case of a 36-year-old patient diagnosed with SDS through whole-exome sequencing, highlighting the possibility of SDS in cases of unexplained cirrhosis and pancreatic fat infiltration.