Department of Neurology, Children's Hospital Boston, Boston, Massachusetts 02115, USA.
Pediatr Neurol. 2011 Jul;45(1):39-41. doi: 10.1016/j.pediatrneurol.2010.12.011.
Marfan syndrome is an autosomal dominant connective tissue disorder commonly due to mutation of the fibrillin-1 (FBN-1) gene that causes disruption of elastic fibers in large- and medium-size arteries and predisposes to aneurysm formation and arterial dissection. Cardiovascular complications occur in most patients with Marfan syndrome, but interestingly, neurovascular complications of Marfan syndrome are rare. We present a novel case of an adolescent with Marfan syndrome with spontaneous intracranial cerebral artery dissection and ischemic stroke with hemorrhagic transformation. This case is novel in that it reports spontaneous intracranial dissection in a young patient with Marfan syndrome and highlights the rare intrinsic neurovascular complications that can occur in these patients.
马凡综合征是一种常染色体显性遗传性结缔组织疾病,通常由原纤维蛋白-1(FBN-1)基因突变引起,导致大中动脉弹性纤维的破坏,易发生动脉瘤形成和动脉夹层。马凡综合征患者大多存在心血管并发症,但有趣的是,马凡综合征的神经血管并发症较为罕见。我们报告了 1 例马凡综合征青少年自发性颅内脑动脉夹层和缺血性卒中伴出血转化的病例。该病例的新颖之处在于报告了年轻马凡综合征患者的自发性颅内夹层,并强调了这些患者可能发生的罕见内在神经血管并发症。