title: Myofibrillar Myopathy Presenting as Neonatal Intestinal Pseudo-Obstruction: An Extremely Rare Entity.
abstract: BACKGROUND
  Although the most common cause of neonatal intestinal pseudoobstruction (IP) is Hirschprungs disease, rarely myofibrillar myopathy can cause the same.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: a Department of Pathology , All India Institute of Medical Sciences , New Delhi , India.
authors.forename: Parul
authors.initials: P
authors.lastname: Jain
authors.affiliation: a Department of Pathology , All India Institute of Medical Sciences , New Delhi , India.
authors.forename: S M
authors.initials: SM
authors.lastname: Rajeshwari
authors.affiliation: a Department of Pathology , All India Institute of Medical Sciences , New Delhi , India.
authors.forename: Jagjit
authors.initials: J
authors.lastname: Singh
authors.affiliation: a Department of Pathology , All India Institute of Medical Sciences , New Delhi , India.
authors.forename: Tarun
authors.initials: T
authors.lastname: Kumar
authors.affiliation: b Department of Pediatrics , All India Institute of Medical Sciences , New Delhi , India.
authors.forename: Sandeep P
authors.initials: SP
authors.lastname: Agarwal
authors.affiliation: a Department of Pathology , All India Institute of Medical Sciences , New Delhi , India.
authors.forename: Prasenjit
authors.initials: P
authors.lastname: Das
mesh_terms: D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D007418:Intestinal Pseudo-Obstruction / Q000209:etiology*; D008297:Male; D046529:Microscopy, Electron, Transmission; D020914:Myopathies, Structural, Congenital / Q000150:complications* / Q000473:pathology*
keywords: Z disk abnormality; desmin related myopathy; granulo-filamentous inclusions in muscles; myofibrillar myopathy; neonatal intestinal pseudoobstruction