Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Dec 6, 2022; 10(34): 12623-12630
Published online Dec 6, 2022. doi: 10.12998/wjcc.v10.i34.12623
Pseudoileus caused by primary visceral myopathy in a Han Chinese patient with a rare MYH11 mutation: A case report
Na Li, Yi-Ming Song, Xian-Da Zhang, Xue-Song Zhao, Xiang-Yi He, Li-Fen Yu, Duo-Wu Zou
Na Li, Department of Geriatrics, Qinghai Provincial People’s Hospital, Xining 810007, Qinghai Province, China
Yi-Ming Song, Department of Gastroenterology, Fenghua District People’s Hospital, Ningbo 315000, Zhejiang Province, China
Xian-Da Zhang, Medical College, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China
Xue-Song Zhao, Department of Radiology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China
Xiang-Yi He, Li-Fen Yu, Duo-Wu Zou, Department of Gastroenterology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China
Author contributions: Song YM and Zhang XD contributed to the investigation of this study; Zhao XS contributed to the methodology; Zou DW contributed to the project administration; Yu LF participated in the supervision of the manuscript; Li N wrote the original draft; Li N and He XY contributed to manuscript writing, review, and editing.
Informed consent statement: The studies involving human participants were reviewed and approved by Ruijin Hospital Ethics Committee, Shanghai Jiao Tong University School of Medicine (2020-136). The authors declare that appropriate written informed consent was obtained from the patient for the publication of this manuscript and accompanying images.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
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: Xiang-Yi He, PhD, Doctor, Department of Gastroenterology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, No. 197, Ruijin Er Road, Shanghai 200025, China. hexiangyi317@126.com
Received: June 27, 2022
Peer-review started: June 27, 2022
First decision: September 5, 2022
Revised: September 17, 2022
Accepted: November 7, 2022
Article in press: November 7, 2022
Published online: December 6, 2022
Abstract
BACKGROUND

Chronic intestinal pseudo-obstruction (CIPO) is a syndrome of intestinal motor dysfunction caused by intestinal nerve, muscle, and/or Cajal stromal cell lesions. CIPO is a serious category of gastrointestinal dynamic dysfunction, which can eventually lead to the death of patients with intestinal failure. Due to considerable phenotypic heterogeneity, the estimated incidence of CIPO is 1/476190 and 1/416666 in men and women, respectively. According to the etiology, CIPO can be divided into idiopathic and secondary, of which the latter is the most common, often secondary to tumor, virus infection, connective tissue disease, neurological diseases, and endocrine diseases. Idiopathic CIPO in the intestinal tract is divided into visceral myopathy, neuropathy, and stromal cell lesions according to the location. Surgery is usually not recommended for CIPO, because it often does not benefit patients with CIPO, and postoperative intestinal obstruction is likely to occur, which may even worsen the condition.

CASE SUMMARY

Here, we describe the case of a 43-year-old male Han Chinese patient with a 15-year history of recurrent abdominal distention with no clear cause. The results of physical, biochemical, and other relevant examinations showed no clear abnormalities. Contrast-enhanced computed tomography (CT) indicated a large duodenum, clear expansion of the intestinal lumen, and CIPO. Whole exome sequencing (WES) of the patient and his mother confirmed the diagnosis of primary familial visceral myopathy type 2 chronic pseudoileus with a rare heterozygous gene mutation in MYH11. This is the second reported case of CIPO with a heterozygous MYH11 [NM_001040113.1: c.5819delC (p.Pro1940Hisfs*91)] mutation.

CONCLUSION

This case report indicates that physicians can perform routine clinical examinations, CT, and WES to achieve a diagnosis and treatment of CIPO in early disease stages.

Keywords: Pseudoileus, Heterozygous MHY11 gene mutation, Whole exome sequencing, Contrast-enhanced computed tomography, Case report

Core Tip: Chronic intestinal pseudo-obstruction is a rare abdominal disease with high morbidity and mortality. A patient developed abdominal symptoms with no mechanical intestinal obstruction, characterized by symptoms of chronic intestinal obstruction; whole exome sequencing (WES) was performed and revealed a rare autosomal dominant mutation associated with primary familial visceral myopathy type 2, MYH11, NM_001040113.1:c.5819delC (p.Pro1940Hisfs*91), which is a rare heterozygous mutation. In this case, mechanical ileus and secondary causes of pseudoileus were excluded, and the location, nature, and extent of the lesions were determined by small bowel computed tomography examination, and the etiology was determined by WES.