Jiang S, Zhou YX, Sun XH, Chen PP, Tang H, Chen Y, Liu YP, Li YX, Kang L. Hereditary chronic intestinal pseudo-obstruction caused by a rare MYH11 mutation: A case report. World J Gastrointest Surg 2025; 17(6): 107235 [DOI: 10.4240/wjgs.v17.i6.107235]
Corresponding Author of This Article
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
Research Domain of This Article
Genetics & Heredity
Article-Type of This Article
Case Report
Open-Access Policy of This Article
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 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
Abstract
BACKGROUND
Chronic intestinal pseudo-obstruction (CIPO) is a rare and debilitating disorder, characterized by severe impairments in gastrointestinal motility. The affected sites include the enteric/intrinsic autonomic nerves (neuropathy), intestinal smooth muscle cells (myopathy), and interstitial cells of Cajal (mesenchymopathy). The etiology can be genetic, idiopathic, or acquired. Owing to its nonspecific clinical presentation and lack of definitive diagnostic methods, misdiagnosis of CIPO is common.
CASE SUMMARY
This case involved an older male with insidious onset in adolescence who presented with postprandial bloating, intermittent diarrhea, and weight loss. During the disease course, the patient experienced two episodes of intestinal obstruction. Imaging revealed multisegmental digestive tract abnormalities (gastric emptying disorder, significant duodenal dilatation, and segmental jejunal dilatation). Whole-exome sequencing revealed a rare MYH11 mutation [NM_001040113.2: C.5819del (p.Pro1940HisfsTer91)], confirming hereditary myopathic CIPO.
CONCLUSION
This report adds to our current understanding of CIPO etiology by reinforcing the role of MYH11 variants in the pathogenesis of the CIPO phenotype.
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.
