Total colonic aganglionosis: a 15-year single center experience

Area of Science:

• Pediatric Surgery
• Gastroenterology
• Clinical Outcomes Research

Background:

• Total colonic aganglionosis (TCA) is a rare congenital disorder characterized by the absence of ganglion cells in the distal colon.
• Management of TCA is complex, and comprehensive outcome data are limited.
• This study reviews the experience with TCA at a single institution.

Purpose of the Study:

• To review the demographics, treatment strategies, and clinical outcomes of patients with total colonic aganglionosis (TCA).
• To identify challenges and long-term functional results in TCA management.
• To inform future management approaches for this rare condition.

Main Methods:

• A retrospective case note review was conducted over a 15-year period at a single center.
• Data collected included patient demographics, surgical procedures, complications, and long-term functional outcomes.
• Analysis focused on treatment variations and their associated outcomes.

Main Results:

• Nine patients (5 male) with TCA were identified, presenting with distal intestinal obstruction in early infancy.
• Seven patients underwent staged pull-through procedures (Soave, Duhamel, Martin) with no short-term complications.
• All patients experienced readmissions for enterocolitis, diarrhea, or high stoma output; four required further procedures, and only one achieved continence by age 3.
• Two patients requested stoma reformation due to incontinence at age 8.

Conclusions:

• Total colonic aganglionosis (TCA) is associated with high morbidity and poor functional outcomes, including a significant likelihood of requiring a long-term stoma.
• Continence is rarely achieved, and persistent incontinence may necessitate stoma revision.
• A long-term stoma should be considered a primary management option in TCA cases.