van den Berg J S, Limburg M, Hennekam R C
Department of Neurology, University of Amsterdam, Netherlands.
Stroke. 1996 Jan;27(1):10-2. doi: 10.1161/01.str.27.1.10.
Marfan syndrome is a heritable disorder of connective tissue caused by a deficiency of the glycoprotein fibrillin. In several publications and neurological textbooks, a relationship between Marfan syndrome and intracranial aneurysms has been assumed.
The records of 135 patients classified as having Marfan syndrome who visited the Amsterdam Marfan clinic or were admitted to the departments of neurology and neurosurgery and the records of all patients with a subarachnoid hemorrhage or intracranial aneurysm who visited or were admitted to the departments of neurology and neurosurgery between January 1, 1982, and January 1, 1994, were retrieved. The literature was reviewed regarding Marfan syndrome and intracranial aneurysms.
No patient visiting the Marfan clinic had a symptomatic intracranial aneurysm. No patient with Marfan syndrome had been admitted with a ruptured intracranial aneurysm at the departments of neurology or neurosurgery in this period, while during that period 826 patients with symptomatic intracranial aneurysms had been admitted. During follow-up of 129 of the 135 patients with Marfan syndrome (2850 retrospective patient observation years and 581 prospective patient observation years), none presented a symptomatic intracranial aneurysm. The suggested relationship between Marfan syndrome and intracranial aneurysms is based mainly on 10 case reports. However, the diagnosis of Marfan syndrome is doubtful in several of these reports. Several large studies of patients with Marfan syndrome did not mention a ruptured intracranial aneurysm as a clinical manifestation.
We conclude that there is insufficient evidence to presume a relationship between symptomatic intracranial aneurysms and Marfan syndrome on the basis of currently available data.
马凡综合征是一种由糖蛋白原纤维蛋白缺乏引起的遗传性结缔组织疾病。在一些出版物和神经学教科书中，已假定马凡综合征与颅内动脉瘤之间存在关联。
检索了135例被归类为患有马凡综合征的患者的记录，这些患者曾就诊于阿姆斯特丹马凡诊所或被收入神经内科和神经外科，同时检索了1982年1月1日至1994年1月1日期间就诊于或被收入神经内科和神经外科的所有蛛网膜下腔出血或颅内动脉瘤患者的记录。对有关马凡综合征和颅内动脉瘤的文献进行了综述。
就诊于马凡诊所的患者中没有出现有症状的颅内动脉瘤。在此期间，没有马凡综合征患者因颅内动脉瘤破裂而被收入神经内科或神经外科，而在此期间有826例有症状的颅内动脉瘤患者被收入。在135例马凡综合征患者中的129例的随访期间（回顾性患者观察年数为2850年，前瞻性患者观察年数为581年），没有患者出现有症状的颅内动脉瘤。马凡综合征与颅内动脉瘤之间的假定关联主要基于10例病例报告。然而，在其中一些报告中，马凡综合征的诊断存在疑问。几项针对马凡综合征患者的大型研究并未提及颅内动脉瘤破裂是一种临床表现。
我们得出结论，根据目前可得的数据，没有足够的证据假定有症状的颅内动脉瘤与马凡综合征之间存在关联。
