P2545 - From Lethargy to Laparotomy: Unexpected Ischemic Colitis and Sigmoid Volvulus in a Patient With DiGeorge Syndrome

Stella Zaringhalam, MD¹, Ariel Ahl, MD², Garo Kalfayan, MD¹, Kumar Desai, MD¹, Jasprit Takher, MD¹
1Los Robles Regional Medical Center, Thousand Oaks, CA; 2Los Robles Regional Medical center, Los Angeles, CA

Introduction: Ischemic colitis typically affects older adults with cardiovascular risks but is rare in young adults without these factors. DiGeorge syndrome, a congenital disorder with multiple systemic involvement, can complicate clinical assessment due to cognitive impairments. This case report describes a 26-year-old male with DiGeorge syndrome who developed severe ischemic colitis complicated by volvulus, requiring surgical intervention. The case emphasizes the need for broad differential diagnosis and early multidisciplinary care in complex patients with worsening colitis.

Case Description/

Methods: Patient is a 26-year-old male with history of DiGeorge syndrome who presented for generalized weakness, fever and diarrhea. A CT of abdomen and pelvis was significant for wall thickening of the rectosigmoid colon consistent with colitis. Empiric broad-spectrum antibiotics were initiated and a nasogastric tube was placed for decompression. Flex sigmoidoscopy showed a continuous area of nonbleeding ulcerated mucosa in the sigmoid and descending colon with pathology results suggestive of ischemic colitis. KUB revealed colonic dilation up to 11 cm and absence of rectal gas, raising concern for sigmoid volvulus.
A repeat sigmoidoscopy was attempted, revealing severe inflammation in the sigmoid and descending colon. An NG tube was placed in the descending colon for decompression. Despite maximal medical therapy, the patient experienced recurrent abdominal distention complicated by C.difficile infection. He underwent a sigmoid colectomy with Hartmann’s procedure with pathologic examination of the resected bowel showing non-specific colitis with ulceration, favoring ischemic colitis.

Discussion: Ischemic colitis typically affects the elderly due to vascular insufficiency but can rarely occur in young adults with underlying risk factors like hypercoagulability or congenital heart defects. This case involves a young patient with DiGeorge syndrome, whose congenital cardiac anomalies may predispose to colonic ischemia. Symptoms often mimic infectious or inflammatory colitis, complicating diagnosis. Imaging (CT with contrast) and colonoscopy with biopsy are key for diagnosis, showing mucosal injury and inflammation. Management is usually conservative with fluids, bowel rest, antibiotics, but surgery may be needed if complications like volvulus or necrosis develop. Early recognition and treatment are critical, especially in patients with complex medical backgrounds.


Figure: Mucosal ulceration and inflammation in sigmoid and descending colon


Figure: Dilated colon, lack of gas within the rectal vault suggestive of sigmoid volvulus

Disclosures:
Stella Zaringhalam indicated no relevant financial relationships.
Ariel Ahl indicated no relevant financial relationships.
Garo Kalfayan indicated no relevant financial relationships.
Kumar Desai indicated no relevant financial relationships.
Jasprit Takher indicated no relevant financial relationships.

Stella Zaringhalam, MD¹, Ariel Ahl, MD², Garo Kalfayan, MD¹, Kumar Desai, MD¹, Jasprit Takher, MD¹. P2545 - From Lethargy to Laparotomy: Unexpected Ischemic Colitis and Sigmoid Volvulus in a Patient With DiGeorge Syndrome, ACG 2025 Annual Scientific Meeting Abstracts. Phoenix, AZ: American College of Gastroenterology.