Related Experiment Video
Updated: Mar 26, 2026

Author Spotlight: Enhancing Understanding and Treatment Strategies with the NEC-on-a-Chip Model
Published on: July 28, 2023
Myofibrillar Myopathy Presenting as Neonatal Intestinal Pseudo-Obstruction: An Extremely Rare Entity
Parul Jain1, S M Rajeshwari1, Jagjit Singh1
1a Department of Pathology , All India Institute of Medical Sciences , New Delhi , India.
Background:
Although the most common cause of neonatal intestinal pseudoobstruction (IP) is Hirschprungs disease, rarely myofibrillar myopathy can cause the same.
Case Report:
This 31+4/7 male infant at autopsy had marked narrowing of the jejunum (0.9 cm long), and colon (7.0 cm long) markedly narrowed segments of the jejunum and large intestine, were noted respectively. Sections from these segments showed eosinophilic periodic acid Schiff stain and desmin positive cytoplasmic inclusion bodies in the myocytes. Transmission electron microscopy performed revealed the presence of abnormal granulofilamentous material around the atrophic sarcomeres, subsarcolemmal rod-shaped and globoid fibrillar inclusions in the intestinal, skeletal, and cardiac myocytes, suggesting a myofibrillar myopathy.
Conclusion:
Pure phenotypic neonatal IP presentation in a myofibrillar myopathy is extremely rare and not reported in the literature. Along with other common causes of neonatal IP, neuromuscular causes should also be investigated.
Related Concept Videos
Gastrointestinal Motility Disorders
Inborn Errors of Metabolism
Formation of Muscle Fibers from Myoblasts
Muscle progenitor cells (MPCs) are formed from the myotomes. MPCs express genes that encode the transcription factors Pax3 and Pax7. Along with Pax 3/7, other transcription...
Disorders of the Skeletal Muscle
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Esophageal Strictures-I: Introduction
Etiology
The primary cause of esophageal strictures is long-standing gastroesophageal reflux disease (GERD), accounting for about 70 to 80% of adult cases. Chronic acid reflux can lead to injury and scarring of the esophageal lining, culminating in...

