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CASE REPORT article

Front. Pediatr.
Sec. Pediatric Gastroenterology, Hepatology and Nutrition
Volume 12 - 2024 | doi: 10.3389/fped.2024.1460658
This article is part of the Research Topic Multidisciplinary Approaches in Pediatric Gastrointestinal and Liver Disease View all 8 articles

Pyridostigmine as a Therapeutic Option for Pediatric Gastrointestinal Dysmotilities in ATR-X Syndrome. Case Report and Literature Review

Provisionally accepted
Francesco Fabrizio Comisi Francesco Fabrizio Comisi 1*Consolata Soddu Consolata Soddu 2Mara Corpino Mara Corpino 2Monica Marica Monica Marica 2Roberto Cacace Roberto Cacace 1Thomas Foiadelli Thomas Foiadelli 3Salvatore Savasta Salvatore Savasta 1
  • 1 Pediatric Clinic and Rare Diseases, Microcitemico Hospital “A. Cao”, University of Cagliari, Cagliari, Italy
  • 2 Pediatric Clinic and Rare Diseases, Microcitemico Hospital “A. Cao”, Cagliari, Italy
  • 3 Department of Pediatrics, San Matteo Hospital Foundation (IRCCS), Pavia, Lombardy, Italy

The final, formatted version of the article will be published soon.

    Background: Alpha-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 gastrointestinal (GI) complications, such as abdominal distension, chronic constipation, feeding difficulties, gastroesophageal reflux, and mild-to-moderate anemia secondary to alpha-thalassemia.We report a patient with ATR-X syndrome suffering from gastrointestinal dysmotility and highlight the beneficial effects of pyridostigmine. Knowledge about the role and appropriate dosage of pyridostigmine in GI motility disorders is limited. To date, only nine pediatric cases involving pyridostigmine for GI dysmotility have been reported.Considering current understanding about the treatment of gastrointestinal complications in patients with genetic syndromes, this case provides new insights into management of these complex clinical presentations.

    Keywords: Gastrointestinal Dysmotility, Alpha thalassemia, Alpha-thalassemia X-linked intellectual disability, ATR-X syndrome, Pyridostigmine, Constipation, therapy

    Received: 06 Jul 2024; Accepted: 30 Nov 2024.

    Copyright: © 2024 Comisi, Soddu, Corpino, Marica, Cacace, Foiadelli and Savasta. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Francesco Fabrizio Comisi, Pediatric Clinic and Rare Diseases, Microcitemico Hospital “A. Cao”, University of Cagliari, Cagliari, Italy

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.