ArticleJournal of pediatric gastroenterology and nutrition2026
Clinical, manometric, genetic, and histologic associations in pediatric intestinal pseudo-obstruction: A case series.
Article in Journal of pediatric gastroenterology and nutrition, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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The trial behind it
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Who cites it
2 citing papers in PubMed.
- Unmasking the "Braided" Bowel: Chronic Intestinal Pseudo-Obstruction-A Case Report.Diagnostics (Basel, Switzerland) · 2026Article
- Clinical, manometric, genetic, and histologic associations in pediatric intestinal pseudo-obstruction: A case series.Journal of pediatric gastroenterology and nutrition · 2026Article
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
objectivesPediatric intestinal pseudo-obstruction (PIPO) is a severe bowel motility disorder characterized by impaired propulsion of gastrointestinal contents without mechanical obstruction. PIPO encompasses congenital and acquired disorders, including neuropathies, myopathies, and mesenchymopathies. PIPO presents with abdominal distension, bilious vomiting, and severe constipation. Diagnosis is based on objective measures of neuromuscular dysfunction, dilated bowel on imaging, parenteral and/or enteral nutrition dependence, and genetic or metabolic testing. Antroduodenal manometry permits objective assessment of proximal bowel neuromuscular function. Genetic testing is increasingly valuable although causes of PIPO often remain incompletely defined. Understanding genotype-phenotype correlations is essential for clarifying disease mechanisms and guiding therapies. This study aimed to characterize the clinical and genetic profiles of children with PIPO, utilizing manometric data for subtype classification.
methodsA retrospective chart review was conducted at a tertiary care pediatric medical center, with inclusion criteria of PIPO diagnosis, completed manometry testing, and genetic evaluation.
resultsNineteen children met inclusion criteria. Antroduodenal manometry classified 59% as neuropathic, 35% as myopathic, and one with mixed neuropathic and myopathic dysfunction. Genetic testing revealed pathogenic ACTG2 mutations in all myopathic cases, while neuropathic PIPO exhibited more genetic variability. Histopathology was inconsistent and often nonspecific. Therapeutic approaches focused on nutritional support and promotility agents, with surgical intervention more common in myopathic cases.
conclusionsThis study highlights the association of ACTG2 mutations with a myopathic phenotype, and genetic diversity in neuropathic PIPO, emphasizing the need for further research to improve phenotyping to enhance diagnosis and treatment.
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