Anterior spinal artery syndrome from type A aortic dissection in a patient with Marfan syndrome due to a novel fibrillin mutation

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.