Pyridostigmine as a therapeutic option for pediatric gastrointestinal dysmotilities in ATR-X syndrome. Case report and literature review

Pyridostigmine as a therapeutic option for pediatric gastrointestinal dysmotilities in ATR-X syndrome. Case report and literature review

BackgroundAlpha-thalassemia X-linked intellectual disability (ATR-X) syndrome, is a rare genetic disorder, caused by mutations in the ATRX gene. Clinical manifestations include typical facial dysmorphisms, mild-to-severe intellectual disability, hypotonia, genital anomalies, significant gastrointest...

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Bibliographic Details
Main Authors: F. F. Comisi, C. Soddu, M. Corpino, M. Marica, R. Cacace, T. Foiadelli, S. Savasta
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-12-01
Series:Frontiers in Pediatrics
Subjects:
gastrointestinal dysmotility
alpha thalassemia
alpha-thalassemia X-linked intellectual disability
ATR-X syndrome
pyridostigmine
constipation
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1460658/full
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