Cheng K, Perenyei M, Sayeed R
National Heart and Lung Institute, Royal Brompton Hospital, Sydney Street, London SW3 6NP, UK,
John Radcliffe Hospital, Oxford, UK.
J R Coll Physicians Edinb. 2018 Jun;48(2):120-123. doi: 10.4997/JRCPE.2018.204.
Type A aortic dissection is a rare but important cardiac surgical emergency. Few reports exist in the literature describing anterior spinal artery syndrome as a presenting feature. We report a case of anterior spinal artery syndrome due to aortic dissection in a patient with Marfan syndrome caused by a novel fibrillin mutation. A 53-year old female presented with chest pain and sudden-onset paralysis. Neurological examination revealed normal upper limb examination, reduced lower limb power and reflexes but normal sensation. CT scanning revealed type A acute aortic dissection which was treated with emergent cardiac surgical repair. At clinic follow up 3 years later, signs of Marfan syndrome were opportunistically noted and genetic testing revealed a novel mutation in the Fibrillin 1 gene. This case emphasises the importance of a good initial clinical assessment, including thorough neurological examination, as well as a low threshold of clinical suspicion for an aortic dissection in such a constellation of symptoms. The importance of family history should also be emphasised given the coincidental diagnosis of Marfan syndrome in a first-degree relative. Furthermore, this case illustrates the classical signs of anterior spinal artery syndrome.
A型主动脉夹层是一种罕见但重要的心脏外科急症。文献中很少有将脊髓前动脉综合征作为首发特征的报道。我们报告一例由新型原纤蛋白突变引起的马凡综合征患者因主动脉夹层导致脊髓前动脉综合征的病例。一名53岁女性出现胸痛和突发瘫痪。神经系统检查显示上肢检查正常，下肢肌力和反射减弱但感觉正常。CT扫描显示A型急性主动脉夹层，接受了紧急心脏手术修复。3年后门诊随访时，偶然发现马凡综合征体征，基因检测显示原纤蛋白1基因存在新型突变。该病例强调了良好的初始临床评估的重要性，包括全面的神经系统检查，以及在出现此类症状时对主动脉夹层保持较低的临床怀疑阈值。鉴于一级亲属中偶然诊断出马凡综合征，家族史的重要性也应得到强调。此外，该病例说明了脊髓前动脉综合征的典型体征。
