Total small bowel and colon aganglionosis

Area of Science:

• Gastroenterology
• Pediatric Surgery
• Pathology

Background:

• Total intestinal aganglionosis is a rare congenital disorder affecting the entire gastrointestinal tract.
• Previous cases often reported poor outcomes, limiting the study of aganglionic small bowel behavior.
• This case highlights prolonged survival, enabling detailed observation of the aganglionic small bowel.

Purpose of the Study:

• To present a case of total small bowel and colon aganglionosis.
• To investigate the functional capacity of the aganglionic small bowel in a long-term survivor.
• To emphasize the importance of early diagnosis in cases of Hirschsprung's disease with small bowel involvement.

Main Methods:

• Case presentation of total intestinal aganglionosis.
• Review of 11 previously reported cases.
• Functional assessment of the aganglionic small bowel, including absorption and response to enteral feeding.
• Radiological studies to evaluate small bowel motility and dilation.

Main Results:

• The patient survived with good condition, allowing for study of the aganglionic small bowel.
• Despite absent propulsion, absorption remained intact, supporting the feasibility of enteral feeding.
• Aganglionosis of the ileum did not abolish all muscle activity, leading to potential misinterpretation of bowel sounds and X-ray findings.
• Affected small bowel segments were often dilated.

Conclusions:

• Enteral feeding is possible in total intestinal aganglionosis due to preserved absorption.
• Small bowel aganglionosis can present with misleading motility signs and dilation.
• Routine full-thickness jejunal biopsy is recommended for early diagnosis of total intestinal aganglionosis in Hirschsprung's disease.