Myofibrillar Myopathy Presenting as Neonatal Intestinal Pseudo-Obstruction: An Extremely Rare Entity

Fetal and Pediatric Pathology
Parul JainPrasenjit Das

Abstract

Although the most common cause of neonatal intestinal pseudoobstruction (IP) is Hirschprungs disease, rarely myofibrillar myopathy can cause the same. 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. 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.

References

Jul 1, 1996·Journal of Pediatric Surgery·T Mele, M Evans
Apr 28, 2004·Neurology·Duygu Selcen, Andrew G Engel
Oct 13, 2006·Biochimica Et Biophysica Acta·Bjarne Udd
Nov 22, 2007·Journal of Pediatric Gastroenterology and Nutrition·Mayank ShuklaAsit K Tripathy
Jan 25, 2011·Neuromuscular Disorders : NMD·Duygu Selcen
Mar 26, 2014·Virchows Archiv : an International Journal of Pathology·Saumyaranjan MallickDatta Gupta Siddhartha

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