# Laparoscopy-assisted total colectomy for progressive megacolon due to intestinal ganglioneuromatosis in a young adult with multiple endocrine neoplasia type 2B: a case report

## TL;DR

A young adult with a rare genetic syndrome underwent laparoscopic surgery to treat severe colon dilation caused by a rare condition.

## Contribution

First reported use of laparoscopy-assisted total colectomy for megacolon in multiple endocrine neoplasia type 2B.

## Key findings

- Laparoscopic surgery is technically feasible and effective for treating megacolon in MEN2B patients.
- Laparoscopic approach may benefit patients requiring multiple surgeries due to syndromic disease.
- Case highlights the need for ongoing monitoring of gastrointestinal symptoms in MEN2B patients.

## Abstract

Multiple endocrine neoplasia type 2B (MEN2B) is a rare hereditary syndrome requiring multidisciplinary management from pediatric to adult care. Gastrointestinal manifestations, particularly megacolon due to intestinal ganglioneuromatosis, pose significant challenges during the adolescent and young adult (AYA) transition period. Here, we report the first case of laparoscopy-assisted total colectomy for MEN2B-associated megacolon caused by intestinal ganglioneuromatosis.

At age 13, he was evaluated for oral cavity masses, and was diagnosed with mucosal neuromas of his tongue, raising suspicion for MEN2B. Genetic testing confirmed a RET M918T variant, and he subsequently underwent total thyroidectomy for medullary thyroid carcinoma. At age 16, he underwent partial resection of the descending colon for recurrent diverticulitis caused by intestinal ganglioneuromatosis. Subsequently, he experienced alternating bouts of constipation and diarrhea with progressive colonic dilation. At ages 26 and 27, he was hospitalized for bowel obstruction due to progressive megacolon. After conservative treatment, he underwent laparoscopy-assisted total colectomy with ileorectal anastomosis.

Our case demonstrates that laparoscopy-assisted total colectomy is both technically feasible and effective for treating megacolon in patients with MEN2B. This approach may be particularly beneficial for these patients, who often require multiple surgeries throughout their lives due to the syndromic nature of their disease. Regular monitoring for recurrent gastrointestinal symptoms will be essential for early detection of any future involvement of the remaining intestinal tract.

Laparoscopic surgery represents an effective, minimally invasive approach for managing progressive megacolon in AYA patients with MEN2B, offering advantages for long-term syndrome management.

•Laparoscopic surgery offers effective megacolon management in adolescent and young adult multiple endocrine neoplasia type 2B cases•Laparoscopic surgery in patients with syndromes who require lifelong multiple surgeries•First reported laparoscopy-assisted total colectomy for multiple endocrine neoplasia type 2B-associated megacolon

Laparoscopic surgery offers effective megacolon management in adolescent and young adult multiple endocrine neoplasia type 2B cases

Laparoscopic surgery in patients with syndromes who require lifelong multiple surgeries

First reported laparoscopy-assisted total colectomy for multiple endocrine neoplasia type 2B-associated megacolon