Cecal volvulus in a child with CHARGE syndrome

Area of Science:

• Pediatric Surgery
• Clinical Case Report
• Medical Genetics

Background:

• CHARGE syndrome is a rare genetic disorder associated with multiple congenital anomalies.
• Patients with CHARGE syndrome often present complex medical histories, including gastrointestinal issues.
• Previous surgical interventions, such as Nissen's fundoplication, are common in managing associated conditions.

Observation:

• A 10-year-old boy with CHARGE syndrome developed cecal volvulus.
• The volvulus involved a 540-degree clockwise rotation of the terminal ileum.
• The rotated bowel segment was displaced to the right upper quadrant of the abdomen.

Findings:

• Surgical management included right hemicolectomy with ileo- and colostomy, followed by a staged ileocolostomy.
• Predisposing factors identified include midline structural defects, nonfixation of the cecum and ascending colon, chronic constipation, and prior abdominal surgery.
• The patient's complex congenital anomalies associated with CHARGE syndrome likely contributed to the cecal volvulus.

Implications:

• This case underscores the importance of recognizing cecal volvulus as a potential complication in children with CHARGE syndrome.
• Understanding predisposing factors is crucial for early diagnosis and management of gastrointestinal emergencies in this population.
• Further research may elucidate the specific mechanisms linking CHARGE syndrome and intestinal malrotation or volvulus.