Abdul-Hafez Hamza A, Abudeyak Yazan, Mansour Mahmoud S, Barakat Mohammed A, Abuzahra Mohanad A
Department of Medicine, Faculty of Medicine and Health Sciences, An-Najah National University, Nablus, Palestine.
Palestinian Ministry of Health, Darwish Nazzal Government Hospital, Qalqilya, Palestine.
Int J Emerg Med. 2025 Apr 10;18(1):76. doi: 10.1186/s12245-025-00854-y.
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.
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.
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.
1型神经纤维瘤病（NF1）是一种常染色体显性疾病，与皮肤和血管并发症相关。动脉破裂，包括罕见的锁骨下动脉受累，可能危及生命。我们报告1例NF1患者甲状腺下动脉破裂，表现为颈部血肿迅速扩大。
一名有NF1病史的35岁男性因突发右侧颈部肿胀和疼痛就诊于急诊科。肿胀迅速扩大，导致严重呼吸困难、烦躁和声音嘶哑，需要紧急插管。插管尝试失败后，进行了外科气管切开术。影像学检查显示甲状腺下动脉靠近甲状腺颈干处有活动性动脉外渗，颈部有一个大血肿延伸至纵隔。进行了弹簧圈栓塞，结果良好。术后随访证实栓塞成功且症状缓解。
NF1通常与皮肤表现相关，但由于血管内皮和平滑肌细胞功能受损，也可导致血管并发症，包括动脉狭窄和动脉瘤。NF1患者甲状腺下动脉破裂极为罕见，可表现为声音嘶哑、吞咽困难和肿胀等症状，使初步诊断复杂化。由于受累血管脆弱，NF1血管并发症的管理具有挑战性。血管内介入治疗，如弹簧圈栓塞，提供了一种侵入性较小的治疗选择，效果良好。在本病例中，快速气道管理后进行血管造影栓塞成功解决了问题。
