ISSN 1300-4948 | E-ISSN 2148-5607
Case Report
Myotonic dystrophy type 1 and pseudo-obstruction in a child with smooth muscle α-actin deficiency and eosinophilic myenteric plexitis
1 Department of Pediatric Surgery, Children’s Hospital, Mediterranean Institute for Pediatric Excellence, Palermo, Italy  
2 Department of Pediatry, University of Pavia and Fondazione IRCCS Policlinico San Matteo, Pavia, Italy  
3 Department of Pathology, Spedali Civili di Brescia, Brescia  
4 Department of Pediatric Surgery, Santa Maria della Misericordia Hospital, Perugia, Italy  
5 Division of Gastroenterology, Department of Medicine, University of Perugia Medical School, Perugia, Italy  
Turk J Gastroenterol 2018; 29: 226-229
DOI: 10.5152/tjg.2018.17582
Key Words: Child, eosinophils, myenteric plexitis, myotonic dystrophy, pseudo-obstruction, smooth muscle α-actin
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 α-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.

 

Cite this article as: Pelizzo G, Calcaterra V, Villanacci V, Mura GB, Bassotti G. Myotonic dystrophy type 1 and pseudo-obstruction in a child with smooth muscle α-actin deficiency and eosinophilic myenteric plexitis. Turk J Gastroenterol 2018; 29: 226-9.

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AVES | Copyright © 2018 Turkish Society of Gastroenterology | Latest Update: 21.05.2018