A rare genetic condition called MEN2B usually announces itself with lumps on the tongue or lips. But for two children, the first sign was something far more frightening: trouble breathing.
Doctors report that both children came in with progressive breathing problems caused by nerve growths (neuromas) in the larynx and trachea. These growths blocked the airway. Genetic testing later confirmed both had MEN2B, caused by a mutation in the RET gene.
This is an unusual presentation. MEN2B is known for causing medullary thyroid cancer and pheochromocytoma, a tumor of the adrenal gland. Airway involvement is exceedingly rare. The report is based on just two cases, so it's unclear how common this pattern is.
The takeaway for doctors: when a child has unexplained airway blockage, MEN2B should be on the radar, especially if other signs like mucosal neuromas are present. Early diagnosis can change the course of the disease.
Common questions
What is MEN2B?
MEN2B is a rare genetic condition that raises the risk of medullary thyroid cancer and pheochromocytoma. It is caused by a mutation in the RET gene. People with MEN2B often have distinctive features like bumps on the lips and tongue.
What were the first symptoms in these two children?
Both children came to doctors with progressive breathing trouble caused by nerve growths (neuromas) blocking their airway. This is an unusual first sign. Usually, MEN2B first shows as lumps on the tongue or lips.
How was the diagnosis confirmed?
Doctors used a laryngoscope and CT scans to find the nerve growths in the airway. After surgery, tissue analysis confirmed neuromas. Genetic testing then showed both children had a RET gene mutation, confirming MEN2B.
Is airway blockage common in MEN2B?
No, it is exceedingly rare. This report describes only two cases. Most people with MEN2B do not have airway problems as a first symptom. The usual signs are bumps on the tongue and lips, and later, thyroid cancer or adrenal tumors.
