Myotonic dystrophy type 1 and pseudo-obstruction in a child with smooth muscle ?-actin deficiency and eosinophilic myenteric plexitis

Gloria Pelizzo, Valeria Calcaterra, Vincenzo Villanacci, Giovanni Battista Mura, Gabrio Bassotti

Research output: Contribution to journalArticle

Abstract

Myotonic dystrophy (MD) frequently involves the gastrointestinal tract, where it can manifest as chronic intestinal pseudo-obstruction (CIPO), particularly in adults. This manifestation is quite uncommon in children. We report the case of a 12-year-old boy with MD type 1 and CIPO, in which a pathologic assessment revealed an association with smooth muscle ?-actin deficiency in the external muscular layer of the ileum, and with features of eosinophilic plexitis and eosinophilic muscle infiltration in the colon. In this peculiar case, the clinical aspects of CIPO might have been due to the involvement of several neuromuscular mechanisms.

Original languageEnglish
Pages (from-to)226-229
Number of pages4
JournalTurkish Journal of Gastroenterology
Volume29
Issue number2
DOIs
Publication statusPublished - Mar 1 2018

Keywords

  • Child
  • Eosinophils
  • Myenteric plexitis
  • Myotonic dystrophy
  • Pseudo-obstruction
  • Smooth muscle ?-actin

ASJC Scopus subject areas

  • Gastroenterology

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