ArticleThe Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology2018
Myotonic dystrophy type 1 and pseudo-obstruction in a child with smooth muscle α-actin deficiency and eosinophilic myenteric plexitis.
Article in The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 10 citations in OpenAlex.
- Autonomic nervous system and gastrointestinal manifestations with an emphasis on gastric dysfunction.Autonomic neuroscience : basic & clinical · 2026Review
- MBNL loss of function in smooth muscle as a model for myotonic dystrophy associated gastrointestinal dysmotility.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Clinical and Molecular Insights into Gastrointestinal Dysfunction in Myotonic Dystrophy Types 1 & 2.International journal of molecular sciences · 2022Review
- Gastrointestinal motility disorders in neurologic disease.The Journal of clinical investigation · 2021Review
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Authors and funding
5 authors at 5 institutions in 2 countries.
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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.
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