TY - JOUR
T1 - Myotonic dystrophy type 1 and pseudo-obstruction in a child with smooth muscle ?-actin deficiency and eosinophilic myenteric plexitis
AU - Pelizzo, Gloria
AU - Calcaterra, Valeria
AU - Villanacci, Vincenzo
AU - Mura, Giovanni Battista
AU - Bassotti, Gabrio
PY - 2018/3/1
Y1 - 2018/3/1
N2 - 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.
AB - 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.
KW - Child
KW - Eosinophils
KW - Myenteric plexitis
KW - Myotonic dystrophy
KW - Pseudo-obstruction
KW - Smooth muscle ?-actin
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U2 - 10.5152/tjg.2018.17582
DO - 10.5152/tjg.2018.17582
M3 - Article
AN - SCOPUS:85043249972
VL - 29
SP - 226
EP - 229
JO - The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology
JF - The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology
SN - 1300-4948
IS - 2
ER -