[HTML][HTML] Myotonic dystrophy type 1 and pseudo-obstruction in a child with smooth muscle α-actin deficiency and eosinophilic myenteric plexitis
G Pelizzo, V Calcaterra, V Villanacci… - The Turkish Journal …, 2018 - ncbi.nlm.nih.gov
G Pelizzo, V Calcaterra, V Villanacci, GB Mura, G Bassotti
The Turkish Journal of Gastroenterology, 2018•ncbi.nlm.nih.govMyotonic 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 …
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 …
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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