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

doi:10.5152/tjg.2018.17582

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

IRCCS Fondazione Policlinico San Matteo

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	226-229
Number of pages	4
Journal	Turkish Journal of Gastroenterology
Volume	29
Issue number	2
DOIs	https://doi.org/10.5152/tjg.2018.17582
Publication status	Published - Mar 1 2018

Keywords

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

ASJC Scopus subject areas

Gastroenterology

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10.5152/tjg.2018.17582

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Myotonic dystrophy type 1 and pseudo-obstruction in a child with smooth muscle ?-actin deficiency and eosinophilic myenteric plexitis. / Pelizzo, Gloria; Calcaterra, Valeria; Villanacci, Vincenzo; Mura, Giovanni Battista; Bassotti, Gabrio.

In: Turkish Journal of Gastroenterology, Vol. 29, No. 2, 01.03.2018, p. 226-229.

Research output: Contribution to journal › Article › peer-review

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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.",

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AU - Mura, Giovanni Battista

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

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Keywords

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