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A 10-Year-Old Boy With Chronic Atrial and Intestinal Dysrhythmia (CAID) and Chronic Intestinal Pseudo-Obstruction
Amirhossein Hosseini1, Mina Alibeik1, Soheil Omid2
1Pediatric Gastroenterology, Pediatric Gastroenterology, Hepatology and Nutrition Research Center, Research Institute for Children's Health Shahid Beheshti University of Medical Sciences Tehran Iran.
Insights
Chronic intestinal pseudo-obstruction (CIPO) can stem from rare genetic disorders like Chronic Atrial and Intestinal Dysrhythmia (CAID). This case highlights CAID as a treatable cause of CIPO, emphasizing genetic testing and counseling.
Area of Science:
- Gastroenterology
- Genetics
- Pediatrics
Background:
- Chronic Intestinal Pseudo-Obstruction (CIPO) is a severe motility disorder mimicking mechanical blockage.
- CIPO can be idiopathic or secondary to conditions including genetic disorders.
- Chronic Atrial and Intestinal Dysrhythmia (CAID) is a rare autosomal recessive cohesinopathy causing CIPO.
Purpose of the Study:
- To report a case of CIPO caused by CAID in a pediatric patient.
- To highlight the diagnostic approach and treatment response for CAID-associated CIPO.
- To emphasize the importance of considering CAID in CIPO cases with cardiac involvement.
Main Methods:
- Diagnostic workup for severe gastrointestinal symptoms.
- Genetic testing to identify the underlying cause of CIPO.
- Pharmacological treatment and clinical response assessment.
Main Results:
- A 10-year-old male diagnosed with CIPO.
- Genetic testing confirmed CAID due to an SGOL1 (K23E) mutation.
- Patient showed a clinically significant response to pharmacological treatment.
Conclusions:
- CAID is a significant, albeit rare, cause of CIPO, particularly when cardiac symptoms are present.
- Genetic counseling and testing are crucial for diagnosing CAID in CIPO patients.
- Early identification and management of CAID can lead to improved patient outcomes.
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.
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