Myotonic dystrophy type 1 and pseudo-obstruction in a child with smooth muscle α-actin deficiency and eosinophilic myenteric plexitis
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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 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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Severe phenotypes of myotonic dystrophy include pseudo-obstruction, including in pediatric cases with smooth muscle and myenteric pathology.
“Severe phenotypes include megacolon due to degenerative neuropathy of the myenteric plexus (Yoshida et al., 1988) and pseudo-obstruction, including in pediatric cases with smooth muscle and myenteric pathology (Ho et al., 2019; Pelizzo et al., 2018).”
From Autonomic nervous system and gastrointestinal manifestations with an emphasis on gastric dysfunction (2026) · cites this paper as Pelizzo et al., 2018
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Plewniok, J., Partyka, M., Janeczek, M., Szymańska, W. M., Kantor, K. K., Wójcik, J., Pamuła, K. W., Jaglarz, K., Kuca, M., & Cholewa, M. (2025) · Health Problems of Civilization · doi:10.5114/hpc.2025.153689
- Authors
- Pelizzo, G., Calcaterra, V., Villanacci, V., Mura, G. B., & Bassotti, G.
- Affiliations
- University of Pavia (IT)
- Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia (IT)
- University of Perugia (IT)
- Venue
- Turkish Journal of Gastroenterology
- Publisher
- AVES YAYINCILIK A.Ş.
- Published
- 2018-03-15
- Volume
- 29
- Issue
- 2
- Pages
- 226-229
- ISSN
- 1300-4948 (ISSN-L)
- 2148-5607
- PMC
- PMC6284701
- OpenAlex
- W2790427183
- Cited by
- 12
- References
- 12
- Citations by year
- 2026: 1 · 2025: 3 · 2022: 3 · 2021: 3 · 2020: 1 · 2019: 1
- FWCI
- 1.19
- Type
- journal article
- Language
- en
- Open access
- Locations
- The Turkish Journal of Gastroenterology (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano) (submittedVersion, other-oa)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Topics
- Health Sciences › Medicine › Gastroenterology › Gastrointestinal motility and disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Surgery › Intestinal Malrotation and Obstruction Disorders
- Keywords
- myotonic dystrophy type 1, chronic intestinal pseudo-obstruction, ileum, colon, pediatric patients, neuromuscular mechanisms
- MeSH terms
- Actins, Child, Enteritis, Eosinophilia, Gastritis, Humans, Intestinal Pseudo-Obstruction, Male, Myenteric Plexus, Myotonic Dystrophy
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