When genetics disrupt the gut: Dysmotility and ganglioneuromatosis in multiple endocrine neoplasia type 2B syndrome
- 1Division of Pediatric Gastroenterology, Hepatology and Nutrition Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA
- 2University of Cincinnati, College of Medicine Cincinnati Ohio USA
Abstract
Multiple Endocrine Neoplasia type 2B (MEN2B) is a rare hereditary cancer syndrome characterized by medullary thyroid carcinoma, mucosal neuromas, and pheochromocytoma. Gastrointestinal involvement is common and often manifests as diffuse intestinal ganglioneuromatosis (IGN), which can impair motility and lead to severe constipation, pseudo‐obstruction, or megacolon. We report a male infant with known MEN2B who developed progressive abdominal distension and obstructive symptoms refractory to medical management. Initial rectal suction biopsies were unrevealing. Due to persistent symptoms, a diverting ileostomy was created for decompression, during which full‐thickness biopsies were obtained, ultimately establishing the definitive diagnosis of colonic ganglioneuromatosis. This case highlights the limitations of mucosal biopsies in detecting deeper neural pathology and underscores the importance of maintaining clinical suspicion for IGN in patients with MEN2B and persistent gastrointestinal symptoms despite a normal initial evaluation.
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BibTeX
@article{yeb2026when,
title = {{When genetics disrupt the gut: Dysmotility and ganglioneuromatosis in multiple endocrine neoplasia type 2B syndrome}},
author = {Aldo Majluta Yeb and Alexander Nasr and Ajay Kaul},
journal = {JPGN reports},
year = {2026},
month = nov,
doi = {10.1002/jpr3.70271},
url = {https://europepmc.org/article/PMC/PMC13729037},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - When genetics disrupt the gut: Dysmotility and ganglioneuromatosis in multiple endocrine neoplasia type 2B syndrome
AU - Aldo Majluta Yeb
AU - Alexander Nasr
AU - Ajay Kaul
PY - 2026
DA - 2026/11/03
JO - JPGN reports
DO - 10.1002/jpr3.70271
UR - https://europepmc.org/article/PMC/PMC13729037
AB - Multiple Endocrine Neoplasia type 2B (MEN2B) is a rare hereditary cancer syndrome characterized by medullary thyroid carcinoma, mucosal neuromas, and pheochromocytoma. Gastrointestinal involvement is common and often manifests as diffuse intestinal ganglioneuromatosis (IGN), which can impair motility and lead to severe constipation, pseudo‐obstruction, or megacolon. We report a male infant with known MEN2B who developed progressive abdominal distension and obstructive symptoms refractory to medical management. Initial rectal suction biopsies were unrevealing. Due to persistent symptoms, a diverting ileostomy was created for decompression, during which full‐thickness biopsies were obtained, ultimately establishing the definitive diagnosis of colonic ganglioneuromatosis. This case highlights the limitations of mucosal biopsies in detecting deeper neural pathology and underscores the importance of maintaining clinical suspicion for IGN in patients with MEN2B and persistent gastrointestinal symptoms despite a normal initial evaluation.
SN - 2691-171X
ER -