Abstract
BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder associated with cutaneous and vascular complications. Arterial rupture, including the rare involvement of the subclavian artery, can be life-threatening. We present a case of a ruptured inferior thyroid artery in a patient with NF1, presenting with a rapidly expanding neck hematoma. CASE PRESENTATION: A 35-year-old male with a history of NF1 presented to the emergency department with sudden-onset right-sided neck swelling and pain. The swelling rapidly expanded, leading to severe dyspnea, irritability, and hoarseness, necessitating emergent intubation. After failed attempts of intubation, a surgical tracheostomy was performed. Imaging revealed active arterial extravasation at the inferior thyroid artery near the thyrocervical trunk, with a large neck hematoma extending into the mediastinum. Coil embolization was performed, resulting in a favorable outcome. Postoperative follow-up confirmed successful embolization and resolution of symptoms. DISCUSSION AND CONCLUSION: NF1 is commonly associated with cutaneous manifestations but can also lead to vascular complications, including arterial stenosis and aneurysms, due to impaired vascular endothelial and smooth muscle cell function. Rupture of the inferior thyroid artery in NF1 is extremely rare and can present with symptoms such as hoarseness, dysphagia, and swelling, complicating initial diagnosis. Management of vascular complications in NF1 can be challenging due to the fragility of affected vessels. Endovascular interventions, such as coil embolization, offer a less invasive treatment option with promising outcomes. In this case, rapid airway management followed by angiographic embolization led to a successful resolution.