第三鳃裂畸形的临床诊断与治疗分析

Clinical diagnosis and treatment analysis of third branchial cleft malformation

摘要:

目的 本研究旨在总结第三鳃裂畸形（囊肿或瘘管），尤其是病变累及甲状腺内的罕见第三鳃裂畸形的临床特征、诊断方法与治疗策略，以期为该类疾病的诊断与治疗提供临床参考。方法 回顾性分析2015年 1月—2025年1月收治的9例确诊为第三鳃裂囊肿或瘘管患者的临床资料，并比较颈部(甲状腺外)肿块与甲状腺内肿块患者的第三鳃裂畸形的临床特征。结果 9例患者中，男6例，女3例，中位年龄37岁；病变位于甲状腺内 3例（ 33.3%），甲状腺外6例（66.7%）。所有患者术前均行颈部超声检查，部分患者加行MRI、CT或食管钡餐造影。 3例甲状腺内病变中，2例因术前误诊致初次治疗不彻底、术后复发，均经完整切除囊肿、瘘管（其中1例联合左侧甲状腺叶切除）后获治愈。9例术后病理均确诊为第三鳃裂囊肿，随访1~6年均无复发。结论 第三鳃裂畸形，尤其是病变累及甲状腺实质时，临床表现缺乏特异性，临床极易误诊为甲状腺来源疾病。术前开展多模态影像学检查（如超声、MRI与食管钡餐造影），对明确病变诊断、清晰显示瘘管走行具有关键临床价值。本病治疗的核心在于感染控制后完整切除囊肿与瘘管组织，针对甲状腺受累的病例，通常需联合施行甲状腺叶切除术，以降低术后复发风险。

Abstract:

Objective To summarize the clinical features, diagnostic methods, and treatment strategies of third branchial cleft malformations, especially those rare cases involving the thyroid gland, so as to provide clinical references for improving the diagnosis and treatment levels of such diseases. Methods Clinical data of 9 patients diagnosed with third branchial cleft malformations (cysts or fistulas) from January 2015 to January 2025 were retrospectively analyzed. The clinical characteristics of third branchial cleft malformations presenting as anterior cervical masses and thyroid masses were compared. Results Among the 9 patients, 6 were male and 3 were female, with a median age of 37 years. Lesions were located within the thyroid gland in 3 cases (33.3%) and outside the thyroid in 6 cases (66.7%). All patients underwent preoperative neck ultrasonography, with some additionally receiving computed tomography, magnetic resonance imaging, or barium esophagography. Among the 3 patients with intrathyroidal lesions, 2 had initial incomplete treatment due to misdiagnosis, leading to postoperative recurrence, and both were cured after complete excision of the cyst and fistula (one case with concomitant left thyroid lobectomy). Postoperative pathological examination confirmed third branchial cleft cysts in all 9 cases, and no recurrence was observed during follow-up periods ranging from 1 to 6 years. Conclusions Third branchial cleft malformations, especially those involving the thyroid parenchyma, have non-specific clinical manifestations, and are easily misdiagnosed as thyroid-origin diseases. Preoperative multimodal imaging examinations (such as ultrasound, MRI, and barium esophagography) are of crucial clinical value for clarifying the diagnosis of the lesion and clearly showing the course of the fistula. The core of this disease’s treatment lies in complete removal of the cyst and fistula tissues after infection control, and for cases with thyroid involvement, thyroid lobectomy is often required to reduce the risk of recurrence.