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

Area of Science:

• Genetics
• Pediatric Gastroenterology
• Rare Diseases

Background:

• Pediatric intestinal pseudo-obstruction (PIPO) is a severe gastrointestinal (GI) motility disorder presenting as intestinal obstruction without mechanical blockage.
• Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome is an ultra-rare autosomal recessive disorder caused by mutations in the SGO1 gene, affecting the cohesin complex.
• CAID syndrome results in both GI and cardiac dysfunction due to impaired chromosome organization and DNA stability.

Purpose of the Study:

• To report a unique case of early-onset pediatric CAID syndrome.
• To describe the presentation of recurrent pseudo-obstruction and developmental delay in a pediatric patient with CAID syndrome.
• To underscore the significance of genetic evaluation for unexplained pediatric pseudo-obstruction.

Main Methods:

• Case report detailing clinical presentation, diagnostic workup, and genetic analysis.
• Review of relevant literature on PIPO and CAID syndrome.
• Multidisciplinary team approach for patient management.

Main Results:

• An exceptional case of early-onset pediatric CAID syndrome was identified.
• The patient presented with recurrent pseudo-obstruction and previously undescribed developmental delay.
• SGO1 gene mutation was implicated in the observed GI and developmental abnormalities.

Conclusions:

• This case highlights a novel association between CAID syndrome, pseudo-obstruction, and developmental delay in pediatric patients.
• Genetic evaluation is crucial for diagnosing rare motility disorders like CAID syndrome in children with unexplained pseudo-obstruction.
• Comprehensive, multidisciplinary management is essential for addressing the complex needs of these patients.