Case Report
Copyright ©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastrointest Surg. Jun 27, 2025; 17(6): 107235
Published online Jun 27, 2025. doi: 10.4240/wjgs.v17.i6.107235
Hereditary chronic intestinal pseudo-obstruction caused by a rare MYH11 mutation: A case report
Shan Jiang, Ya-Xuan Zhou, Xiao-Hong Sun, Pei-Pei Chen, Hao Tang, Yang Chen, Ya-Ping Liu, Yi-Xuan Li, Lin Kang
Shan Jiang, Xiao-Hong Sun, Lin Kang, Department of Geriatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
Ya-Xuan Zhou, Hao Tang, Yang Chen, Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
Pei-Pei Chen, Department of Clinical Nutrition, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences& Peking Union Medical College, Beijing 100730, China
Ya-Ping Liu, Yi-Xuan Li, Rare Disease Medical Center, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences& Peking Union Medical College, Beijing 100730, China
Author contributions: Jiang S contributed to manuscript writing/editing and data collection; Zhou YX contributed to data collection and data analysis; Sun XH, Jiang S, Chen PP, Tang H, and Chen Y contributed to patient diagnosis and treatment; Liu YP and Li YX assisted with the interpretation of whole-exome sequencing; Kang L contributed to conceptualization and supervision; all authors have read and approved the final manuscript.
Supported by The National High Level Hospital Clinical Research Funding, No. 2022-PUMCH-B-129.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest to disclose.
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: Lin Kang, MD, PhD, Chief Physician, Department of Geriatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, No. 1 Shuaifuyuan, Dongcheng District, Beijing 100730, China. kangl@pumch.cn
Received: March 19, 2025
Revised: April 12, 2025
Accepted: May 9, 2025
Published online: June 27, 2025
Processing time: 73 Days and 1.6 Hours
Core Tip

Core Tip: Chronic intestinal pseudo-obstruction (CIPO) is a rare disorder, characterized by severe impairments of gastrointestinal motility. This case involves an elderly male with an insidious onset during adolescence and a disease course spanning several decades, who experienced two episodes of intestinal obstruction requiring ileocecal resection. The histopathological findings confirmed the diagnosis of CIPO. Whole-exome sequencing identified a rare heterozygous MYH11 mutation [NM_001040113.2: C.5819del (p.Pro1940HisfsTer91)], confirming the diagnosis of hereditary myopathic CIPO. This case provides evidence to support the role of MYH11 variants in the CIPO phenotype.