Pyridostigmine as treatment for chronic gastrointestinal dysmotility in a child with Mowat‐Wilson syndrome: A case report and literature review

Gastrointestinal dysmotility is commonly reported among patients with Mowat-Wilson syndrome (MWS) and poses a significant symptomatic burden. Unfortunately, there remains a knowledge gap regarding effective treatment strategies. A 2-year-old male with MWS presented with chronic paradoxical abdominal pain, constipation, and progressively restricted oral intake. He was diagnosed with intestinal pseudo-obstruction, due to recurrent transient small bowel intussusception identified on ultrasound. Pyridostigmine, an acetylcholinesterase inhibitor, was successfully used to promote gastrointestinal motility, improving the child's pain symptoms and allowing return to his baseline activities. This case adds to emerging evidence of low-dose pyridostigmine as a viable treatment to consider for children with symptoms related to impaired gastrointestinal motility, by demonstrating its successful use in a child with MWS for the first time.