Gangemi M, Maiuri F, Donati P, Cinalli G, De Caro M, Sigona L
Institute of Neurosurgery, 2nd School of Medicine, University of Naples, Italy.
Neurol Res. 1990 Sep;12(3):131-6. doi: 10.1080/01616412.1990.11739932.
Three families with two or more members affected by cavernous angiomas of the brain are described and the other 17 reported in the literature are reviewed. The familial occurrence of cerebral cavernous angiomas has been considered a rare event; nevertheless, the experience of the authors (positive familiarity in three patients where two or more relatives have been explored radiologically) suggests that cavernous angiomas of the brain might be, at least in most cases, a familial disease. Therefore, when a patient with cerebral cavernous angioma is observed, a careful familial history and the exploration of the familial members by computerized tomography or better still by magnetic resonance must be performed. The high frequency of multiple lesions in familial cases, the surgical indications and the role of the ultrasonic prenatal diagnosis are also discussed.
本文描述了三个有两名或更多成员患脑海绵状血管瘤的家庭,并对文献中报道的其他17个家庭进行了综述。脑海绵状血管瘤的家族性发病一直被认为是罕见事件;然而,作者的经验(在三名患者中有阳性家族史,其中两名或更多亲属接受了放射学检查)表明,脑海绵状血管瘤至少在大多数情况下可能是一种家族性疾病。因此,当观察到一名患脑海绵状血管瘤的患者时,必须仔细询问家族史,并通过计算机断层扫描或更好的磁共振成像对家族成员进行检查。本文还讨论了家族性病例中多发病变的高频率、手术指征以及超声产前诊断的作用。