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Pediatric Intestinal Pseudo-obstruction in the Era of Genetic Sequencing

  • Pediatric Gastroenterology (S Orenstein and S Khan, Section Editors)
  • Published:
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Abstract

Purpose of Review

The purpose of this review is to discuss current knowledge on pediatric intestinal pseudo-obstruction. We will also review new mutations that have been identified through advancement in genetic testing, allowing for a better understanding of the underlying mechanisms of intestinal dysmotility and potential etiologies.

Recent Findings

With the advancements in genetic testing, new mutations have been identified in the diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), a disorder leading to pediatric pseudo-obstruction. MYLK, LMOD1, MYL9, and MYH11 encode for various proteins within smooth muscle cells; abnormalities within these proteins lead to abnormal intestinal smooth muscle contractions.

Summary

Chronic intestinal pseudo-obstruction (CIPO) is defined by symptoms of bowel obstruction in the absence of a lumen-occluding lesion. CIPO is a heterogeneous group of disorders caused by abnormalities in the enteric neurons, intestinal smooth muscle, and/or the interstitial cells of Cajal (ICC). Symptoms can be non-specific and etiologies include both primary and secondary causes of CIPO that contribute to the delay in recognizing this condition and making the correct diagnosis. Chronic intestinal pseudo-obstruction has been recognized in both adults and children with fundamental differences in the etiology, symptom onset, clinical features and natural history of this disorder. For this reason, it has been considered a separate entity referred to as pediatric intestinal pseudo-obstruction (PIPO).

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Abbreviations

MMIHS:

Megacystis-microcolon-intestinal hypoperistalsis syndrome

CIPO:

Chronic intestinal pseudo-obstruction

PIPO:

Pediatric intestinal pseudo-obstruction

ICC:

Interstitial cells of Cajal

ENS:

Enteric nervous system

MMC:

Migrating motor complex

MNGIE:

Mitochondrial neurogastrointestinal encephalomyopathy

CREN:

Constant rate enteral nutrition

SIBO:

Small intestinal bacterial overgrowth

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  1. Division of Pediatric Gastroenterology, Hepatology and Nutrition, Medical College of Wisconsin, Children’s Hospital of Wisconsin, Milwaukee, WI, USA

    Heidi E. Gamboa & Manu Sood

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Gamboa, H.E., Sood, M. Pediatric Intestinal Pseudo-obstruction in the Era of Genetic Sequencing. Curr Gastroenterol Rep 21, 70 (2019). https://doi.org/10.1007/s11894-019-0737-y

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