MEN2B syndrome presenting as an acute respiratory emergency

An 18-year-old girl presented to the emergency department with a history of noisy breathing and breathlessness progressively increasing for few days. The patient had stridor and tachypnoea. She was tall with a long thin face, wrist sign and high-arched palate suggestive of marfanoid features. X-ray of the neck revealed critical tracheal narrowing. Emergency tracheostomy was performed as a lifesaving procedure. Non-contrast CT neck revealed extratracheal compression by a mass surrounding it. Contrast-enhanced CT scan of the neck revealed heterogeneous mass arising from the right lobe of the thyroid and tracheal deviation with narrowing. Fine-needle aspiration cytology of the mass revealed medullary carcinoma of the thyroid, positive for calcitonin. Calcitonin levels were raised. Apart from the marfanoid features she had localised swellings over the lips, lower eyelid and the lateral aspects of the tongue, clinically suggestive of neuromas. A clinical diagnosis of multiple endocrine neoplasia type 2B syndrome was made. The patient underwent total thyroidectomy with central lymphnode dissection. This case highlights an unusual presentation of a rare disease.