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.
Keywords: Z disk abnormality; desmin related myopathy; granulo-filamentous inclusions in muscles; myofibrillar myopathy; neonatal intestinal pseudoobstruction.