Related Experiment Video

Updated: Nov 5, 2025

Multimodality Diagnosis of Mesenteric Ischemia
05:07

Multimodality Diagnosis of Mesenteric Ischemia

Published on: July 21, 2023

855

Recurrent spontaneous small bowel perforations with a rare pathology: non-familial visceral myopathy

Meiyi Shi1, Young Mee Choi2, Elizabeth Kiselak3

  • 1Department of Surgery, Hackensack University Medical Center, Hackensack, New Jersey, USA meiyi.shi@hmhn.org.

BMJ Case Reports
|May 14, 2021
PubMed

Insights

Visceral myopathy, a rare gastrointestinal disorder, can cause recurrent intestinal perforations. Early consideration is vital for accurate diagnosis and management of this challenging condition.

Area of Science:

  • Gastroenterology
  • Rare Diseases
  • Surgical Pathology

Background:

  • Visceral myopathy is a rare gastrointestinal disorder affecting smooth muscle.
  • It often presents with non-specific symptoms like pseudo-obstruction and dysmotility.
  • Misdiagnosis is common due to overlapping symptoms with other GI conditions.

Observation:

  • A 51-year-old man with a history of recurrent small bowel perforations presented with acute abdomen.
  • Laparotomy revealed a distal jejunal perforation, treated with resection and anastomosis.
  • Pathology showed histiocytic inflammation and muscle layer loss, indicative of visceral myopathy.

Findings:

  • The patient's presentation mimicked other gastrointestinal disorders, complicating diagnosis.
  • Genetic testing identified a variant of uncertain significance in the myosin light chain kinase gene.
  • Histopathological findings strongly suggested visceral myopathy.

Implications:

  • This case highlights the importance of considering visceral myopathy in patients with unexplained recurrent intestinal perforations.
  • Accurate diagnosis of visceral myopathy is crucial for appropriate patient management.
  • Further research into the genetic basis and diagnostic criteria for visceral myopathy is warranted.
Keywords:
gas/free gasgeneral surgerysmall intestine

More Related Videos

A Mouse Model of Intestinal Partial Obstruction07:33

A Mouse Model of Intestinal Partial Obstruction

Published on: March 5, 2018

21.9K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.8K

Related Concept Videos

Esophageal Perforation-I: Introduction01:22

Esophageal Perforation-I: Introduction

Esophageal perforation is a severe medical condition characterized by a breach in the integrity of the esophageal wall. This breach can occur due to various factors such as trauma, medical procedures, or underlying diseases. When the esophageal wall is compromised, it allows food, fluids, and digestive juices into the chest cavity or adjacent structures, leading to potential complications and health risks.
The location of esophageal perforation can vary, occurring anywhere along the esophagus....
227
Esophageal Perforation-II: Clinical Manifestations and Management01:28

Esophageal Perforation-II: Clinical Manifestations and Management

Esophageal perforations manifest in various clinical forms, influenced by factors such as the perforation's cause and location (cervical, intrathoracic, or intra-abdominal), the extent of contamination, and potential injury to adjacent mediastinal structures. The timing between the perforation occurrence and treatment initiation also affects the clinical presentation.
Clinical Manifestations:
212
Chronic Bowel Disorders: Introduction01:17

Chronic Bowel Disorders: Introduction

Chronic bowel diseases are a group of long-term conditions affecting the digestive tract, characterized by inflammation and damage to the gut lining. These conditions primarily include irritable bowel syndrome and inflammatory bowel disease.
Irritable Bowel Syndrome (IBS) is a common disorder affecting the gastrointestinal tract. The distinctive feature is recurrent abdominal pain associated with altered bowel movements, manifesting as constipation, diarrhea, or fluctuating between both. The...
594
Inflammatory Bowel Disease II: Crohn's Disease01:30

Inflammatory Bowel Disease II: Crohn's Disease

Introduction
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by...
520
Inflammatory Bowel Disease I: Ulcerative Colitis01:27

Inflammatory Bowel Disease I: Ulcerative Colitis

Introduction
Inflammatory bowel disease, or IBD, encompasses a group of disorders characterized by chronic inflammation or ulceration of the gastrointestinal tract.
Risk Factors
The exact cause of IBD remains unclear, although it is believed to be due to a mix of genetic, environmental, microbial, and immune factors. Genetic factors are significant in determining susceptibility to IBD, with family history being a critical risk factor. Individuals with a first-degree relative who has IBD are at...
493
Appendicitis-I: Introduction01:22

Appendicitis-I: Introduction

The appendix, a small, narrow, blind tube extending from the inferior part of the cecum, is widely regarded as a vestigial organ, having lost much of its original function through evolution. Despite its diminished role, the appendix can become inflamed, a condition known as appendicitis.
Etiology: Appendicitis can arise from various causes, primarily rooted in the obstruction of the appendix lumen. Factors contributing to this obstruction include fecal accumulation, lymphoid hyperplasia and, in...
945