Chronic atrial and intestinal dysrhythmia: A rare genetic disorder of intestinal pseudo-obstruction.

Abstract

Pediatric intestinal pseudo-obstruction (PIPO) is a rare and severe disorder of gastrointestinal (GI) motility; patients with PIPO display signs and symptoms of intestinal obstruction in the absence of occluding lesions. Chronic atrial and intestinal dysrhythmia (CAID) syndrome is an exceedingly rare autosomal recessive disorder caused by mutations in the SGO1 gene; SGO1 mutations disrupt the cohesin complex, a protein involved in chromosome organization during cell division and hence, DNA stability. CAID leads to both GI and cardiac dysfunction. This case report highlights an exceptional instance of early-onset pediatric CAID marked by recurrent pseudo-obstruction and, notably, developmental delay, which has not been previously described. The case emphasizes the importance of genetic evaluation in pediatric patients with unexplained pseudo-obstruction, and the importance of multidisciplinary management.