Exploring the Use of Pyridostigmine for Treating Pediatric Chronic Intestinal Pseudo-Obstruction in a Patient with ACTL6B Mutation: A Case Study and Literature Review - Takeaways - MDSpire

Exploring the Use of Pyridostigmine for Treating Pediatric Chronic Intestinal Pseudo-Obstruction in a Patient with ACTL6B Mutation: A Case Study and Literature Review

  • By

  • Immacolata Rulli

  • Angelo Mattia Carcione

  • Claudio Romano

  • Roberto Chimenz

  • Valeria Chirico

  • Lucia Marseglia

  • Carmelo Romeo

  • Eloisa Gitto

  • April 23, 2026

  • 0 min

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  • 1

    ACTL6B mutations are linked to various neurodevelopmental disorders, with gastrointestinal dysmotility not previously associated with this gene.

  • 2

    Pediatric chronic intestinal pseudo-obstruction (PIPO) is a severe motility disorder characterized by ineffective gastrointestinal propulsion.

  • 3

    Pyridostigmine, an acetylcholinesterase inhibitor, has shown potential benefits in managing gastrointestinal symptoms in PIPO cases.

  • 4

    A 9-year-old girl with an ACTL6B mutation experienced improved feeding tolerance and reduced vomiting after pyridostigmine therapy.

  • 5

    This case suggests a possible link between ACTL6B-related disorders and gastrointestinal dysmotility, warranting further investigation.

Original Source(s)

Exploring the Use of Pyridostigmine for Treating Pediatric Chronic Intestinal Pseudo-Obstruction in a Patient with ACTL6B Mutation: A Case Study and Literature Review

  • by Immacolata Rulli, Angelo Mattia Carcione, Claudio Romano, Roberto Chimenz, Valeria Chirico, Lucia Marseglia, Carmelo Romeo, Eloisa Gitto

  • April 23, 2026

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