# A 10‐Year‐Old Boy With Chronic Atrial and Intestinal Dysrhythmia (CAID) and Chronic Intestinal Pseudo‐Obstruction (CIPO)

## TL;DR

A 10-year-old boy with severe gut and heart rhythm issues was diagnosed with a rare genetic disorder called CAID, which causes chronic intestinal pseudo-obstruction.

## Contribution

This case report highlights CAID as a rare but important genetic cause of CIPO and emphasizes the need for genetic evaluation in such cases.

## Key findings

- The patient's CIPO was confirmed to be caused by the rare genetic disorder CAID.
- Pharmacological treatment led to a clinically significant improvement in symptoms.
- Genetic counseling is recommended for patients with CIPO and cardiac symptoms to identify underlying causes like CAID.

## Abstract

Chronic intestinal pseudo‐obstruction (CIPO) is a severe gastrointestinal syndrome characterized by disruption of normal gut movement, resembling a mechanical obstruction, despite the absence of any physical obstruction. It can occur idiopathically or as a secondary manifestation of various underlying conditions, such as certain genetic disorders. Chronic atrial and intestinal dysrhythmia (CAID) is one of the rare causes of CIPO. This syndrome is an autosomal recessive cohesinopathy in which the SGOL1 (K23E) mutation disrupts cardiac and intestinal pacemaker cells, leading to sick sinus syndrome (SSS) and chronic intestinal pseudo‐obstruction (CIPO). In this case report, we present a 10‐year‐old male patient with severe gastrointestinal symptoms. After conducting all diagnostic procedures, the patient was diagnosed with Chronic Intestinal Pseudo‐Obstruction (CIPO), and further genetic testing confirmed CAID as the underlying cause of his condition. Pharmacological treatment was administered, and a clinically significant response was observed. When other causes are ruled out, and the patient also exhibits cardiac symptoms, we should consider CAID. We recommend considering genetic counseling for investigating underlying causes, such as CAID, in cases of CIPO.

Chronic intestinal pseudo‐obstruction (CIPO) is diagnosed through the exclusion of mechanical bowel obstruction. The management of CIPO is largely supportive, with surgical intervention not constituting first‐line treatment. Genetic etiologies may underlie CIPO, warranting genetic counseling and evaluation. The rare genetic disorder known as CAID represents one potential genetic cause of this condition.