Pediatric intestinal motility disorders

Abstract

Pediatric intestinal motility disorders affect many children and thus not only impose a significant impact on pediatric health care in general but also on the quality of life of the affected patient. Furthermore, some of these conditions might also have implications for adulthood. Pediatric intestinal motility disorders frequently present as chronic constipation in toddler age children. Most of these conditions are functional, meaning that constipation does not have an organic etiology, but in 5% of the cases, an underlying, clearly organic disorder can be identified. Patients with organic causes for intestinal motility disorders usually present in early infancy or even right after birth. The most striking clinical feature of children with severe intestinal motility disorders is the delayed passage of meconium in the newborn period. This sign is highly indicative of the presence of Hirschsprung disease (HD), which is the most frequent congenital disorder of intestinal motility. HD is a rare but important congenital disease and the most significant entity of pediatric intestinal motility disorders. The etiology and pathogenesis of HD have been extensively studied over the last several decades. A defect in neural crest derived cell migration has been proven as an underlying cause of HD, leading to an aganglionic distal end of the gut. Numerous basic science and clinical research related studies have been conducted to better diagnose and treat HD. Resection of the aganglionic bowel remains the gold standard for treatment of HD. Most recent studies show, at least experimentally, the possibility of a stem cell based therapy for HD. This editorial also includes rare causes of pediatric intestinal motility disorders such as hypoganglionosis, dysganglionosis, chronic intestinal pseudo-obstruction and ganglioneuromatosis in multiple endocrine metaplasia. Underlying organic pathologies are rare in pediatric intestinal motility disorders but must be recognized as early as possible.

Keywords: Intestinal motility disorder; Children; Hirschsprung disease; Chronic constipation; Delayed passage of meconium; Rectal biopsy; Stem cell based treatment; Multiple endocrine metaplasia

Core tip: Intestinal motility disorders are frequent in early childhood. Despite the fact that most of these patients suffer from functional problems it is of major importance to recognize the cases with severe underlying organic causes. Pediatric patients with intestinal motility disorders require a standardized diagnostic and if necessary therapeutic approach. Functional constipation is the most frequent condition in toddlers and preschool age, which requires demystification, diet and concomitant laxative treatment. Functional constipation carries a very good prognosis. Organic causes are rare in intestinal motility disorders and require therefore meticulous diagnostics and adequate surgical treatment. Hirschsprung disease is the most relevant organic cause for pediatric intestinal motility disorders.