Guo HJ. Adult presentation of Shwachman-Diamond syndrome complicated by liver cirrhosis and pancreatic fat infiltration: A case report. World J Hepatol 2025; 17(6): 108558 [DOI: 10.4254/wjh.v17.i6.108558]
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 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/
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
Abstract
BACKGROUND
Shwachman-Diamond syndrome (SDS) is a rare genetic disorder that affects multiple organs, primarily the liver. Most patients are diagnosed during infancy or early childhood. As they grow older, the majority of affected children may experience spontaneous remission, and cases of cirrhosis in adults are rarely reported.
CASE SUMMARY
A 36-year-old male patient presented with massive ascites. Laboratory tests revealed pancytopenia and a serum-ascites albumin gradient greater than 1.1 g/dL. An abdominal computed tomography scan demonstrated cirrhosis, splenomegaly, pancreatic fat infiltration, and a substantial accumulation of peritoneal fluid. Gastroscopy identified esophageal varices. Liver stiffness measurement indicated a value of 32.7 kPa. Based on the results of auxiliary examinations, common causes of cirrhosis were excluded, and a mutation in the Shwachman-Bodian-Diamond syndrome gene was ultimately identified through whole-exome sequencing. The patient was diagnosed with cirrhosis secondary to SDS. Following the correction of hypoalbuminemia and administration of diuretics, the patient's ascites resolved.
CONCLUSION
Patients with liver cirrhosis who also exhibit pancreatic fat infiltration and pancytopenia necessitate further exon testing to exclude the possibility of SDS.
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.
