Liau Yi-Ming J, Jabbour Austin J, Yerdon Heather, Chonillo Carlos Cevallos, Amjed Saira, Hong Andrew, Khan Behram
The University of Queensland Medical School, Ochsner Clinical School, New Orleans, LA.
Institute of Translational Research, Ochsner Clinic Foundation, New Orleans, LA.
Ochsner J. 2023 Spring;23(1):88-91. doi: 10.31486/toj.22.0052.
Agenesis of the internal carotid artery (ICA) is a rare congenital malformation that is often asymptomatic until the fourth or fifth decade. ICA agenesis is associated with several intracranial pathologies, the most reported being intracranial aneurysms, thought to be attributable to the increased flow in the collateral vessels supplying the anterior circulation. The cause of ICA agenesis is largely unknown and has not been consistently associated with any genetic mutations or syndromes. We present the case of a 37-year-old female who was incidentally found to have bilateral agenesis of the ICA system. Patient history revealed that the patient's father and 12 of his 14 siblings died from either ruptured brain aneurysms or cerebrovascular accidents before the age of 50 years. Presenting symptoms included right eye pain radiating to her right posterior neck, a 2-month history of diplopia, and associated nausea and vomiting. Differential diagnoses included immunoglobulin G4-related disease, sarcoidosis, lymphoma, and vasculitis. Absent internal carotids were attributed to congenital agenesis vs hypoplasia. The patient was seen by neurology and initiated on prednisone 80 mg by mouth once daily with a 2-week taper to treat systemic inflammation. The patient was deemed stable for discharge after a 2-day hospital admission and was scheduled for follow-up appointments with genetics, neurology, rheumatology, and ophthalmology. Bilateral ICA agenesis is a rare occurrence, with only 33 cases documented in a case report and literature review published in 2016. Because of the otherwise normal anatomy of the patient and the pervasive intracranial pathology seen in late adulthood in her family, we propose the likelihood of an inheritable form of bilateral ICA agenesis vs vascular disease or familial aneurysms.
颈内动脉发育不全是一种罕见的先天性畸形，通常在40或50岁之前没有症状。颈内动脉发育不全与多种颅内病变相关，最常报道的是颅内动脉瘤，被认为是由于供应前循环的侧支血管血流增加所致。颈内动脉发育不全的病因在很大程度上尚不清楚，并且尚未与任何基因突变或综合征始终相关联。我们报告一例37岁女性，偶然发现双侧颈内动脉系统发育不全。患者病史显示，患者的父亲及其14个兄弟姐妹中的12人在50岁之前死于脑动脉瘤破裂或脑血管意外。现有的症状包括放射至右后颈部的右眼疼痛、2个月的复视病史以及相关的恶心和呕吐。鉴别诊断包括免疫球蛋白G4相关疾病、结节病、淋巴瘤和血管炎。颈内动脉缺失归因于先天性发育不全与发育不良。患者由神经科诊治，并开始口服泼尼松80mg，每日1次，逐渐减量，为期2周，以治疗全身炎症。患者在住院2天后被认为病情稳定可以出院，并安排了与遗传学、神经科、风湿科和眼科的随访预约。双侧颈内动脉发育不全是一种罕见情况，在2016年发表的一篇病例报告和文献综述中仅记录了33例。由于患者其他方面解剖结构正常，且在其家族成年后期出现广泛的颅内病变，我们推测双侧颈内动脉发育不全可能存在遗传形式，而非血管疾病或家族性动脉瘤。
