Case Report: a rare pediatric case series of multiple endocrine neoplasia type 2B presenting with laryngotracheal involvement

Zhibo Xie, J Chen, Xu Hy, Xiaoyan Li

Background Multiple endocrine neoplasia type 2B (MEN2B) is a rare autosomal dominant genetic disorder caused by activating germline mutations in the RET proto-oncogene, typically arising during embryogenesis. The syndrome is characterized by the coexistence of medullary thyroid carcinoma, pheochromocytoma, gastrointestinal ganglioneuromas, and diffuse mucosal neuromas, the latter representing a pathognomonic clinical feature. In pediatric patients, mucosal neuromas most commonly involve the oral cavity, whereas laryngeal or other airway involvement is exceedingly rare and often underrecognized. Methods From 2013 to 2025, two pediatric patients diagnosed with MEN2B were identified at our center. Both cases were confirmed to harbor pathogenic RET gene mutations by genetic testing. Result In this study, we describe two pediatric cases of MEN2B in which laryngeal obstruction and progressive respiratory compromise were the initial clinical manifestations. Laryngoscope and CT examinations revealed mucosal neuromas within the laryngotracheal airway, and postoperative histopathology confirmed the diagnosis of neuroma. We further review the available literature on laryngotracheal involvement in MEN2B to elucidate its phenotypic spectrum and clinical implications. Timely recognition through detailed phenotypic assessment, molecular confirmation of RET mutations, and multidisciplinary management is essential to optimize outcomes. Conclusion Laryngeal or airway neuromas are extremely rare. Clinicians should maintain a high index of suspicion for laryngeal neuromas in children presenting with characteristic craniofacial dysmorphism or a family history suggestive of endocrine neoplasia, as prompt genetic evaluation and integrated management may be life-saving.