Potential Fatal Complication of Neurofibromatosis Type 1: Acute Upper Airway Obstruction Due to Ruptured Transverse Cervical Artery Aneurysm

Neurofibromatosis type 1 (NF1) can cause vascular complications even in undiagnosed NF1 patients. A ruptured aneurysm of the branches of the subclavian artery is a rare but life-threatening event, and the hemorrhage can cause upper airway obstruction. We present a case of NF1 patient with a ruptured transverse cervical artery aneurysm, which led to a nearly obstructed airway. A 52-year-old man who was not previously diagnosed with NF1 presented with sudden pain from the left shoulder to the neck. Since childhood, he has had multiple cutaneous neurofibromas and café-au-lait macules, and freckling in the bilateral axillae. His swollen left side of the neck and left shoulder suggested a hematoma, which compressed the upper airway. Contrast-enhanced computed tomography revealed a cervical hematoma caused by a ruptured aneurysm of the transverse cervical artery. We performed awake fiberoptic intubation because a difficult airway was predicted and surgical airway management may have been impossible due to the anterior cervical hematoma. His airway was secured, and his aneurysm was successfully treated by coil embolization. Based on his cutaneous findings, he was finally diagnosed with NF1. Those who have café-au-lait macules and cutaneous neurofibromas may present with acute cervical hematoma, and it is important to consider the possibility of ruptured aneurysms in the neck region. When patients develop an acute cervical hematoma that causes an acute upper airway obstruction, emergency physicians should consider awake fiberoptic intubation to secure the airway.