Guevara Carlos, Farias Gonzalo, Bulatova Kateryna, Alarcón Pablo, Soruco Wendy, Robles Carlos, Morales Marcelo
Clínica de Neurología, Servicio de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Santiago, Chile.
Sección Genética, Departamento de Medicina, Hospital Clínico Universidad de Chile, Santiago, Chile.
Front Neurol. 2017 Jun 9;8:245. doi: 10.3389/fneur.2017.00245. eCollection 2017.
Dissections of extracranial arteries are estimated to account for only 2% of all ischemic strokes but for approximately 20% of strokes in patients younger than 45 years old. Most dissections of extracranial arteries involve some trauma stretch, mechanical stress, or connective tissue abnormalities. In the absence of these disorders, determining the etiology of recurrent extracranial dissections is quite challenging because the underlying nature of these cases is poorly understood. We report the case of a 44-year-old female with recurrent dissections of the vertebral and carotid arteries associated with a heterozygous mutation p.Pro2122Leu in the NOTCH 1 gene. Her mother with a thoracic aortic aneurysm was also positive for this variant.
据估计，颅外动脉夹层仅占所有缺血性中风的2%，但在45岁以下的患者中，约占中风的20%。大多数颅外动脉夹层涉及某种创伤性拉伸、机械应力或结缔组织异常。在没有这些疾病的情况下，确定复发性颅外动脉夹层的病因极具挑战性，因为这些病例的潜在本质尚不清楚。我们报告了一例44岁女性，其椎动脉和颈动脉反复夹层，与NOTCH 1基因的杂合突变p.Pro2122Leu有关。她患有胸主动脉瘤的母亲也携带此变异。
