Steichen-Gersdorf E, Felber S, Fuchs W, Russeger L, Twerdy K
Department of Paediatrics, University of Innsbruck, Austria.
Eur J Pediatr. 1992 Nov;151(11):861-3. doi: 10.1007/BF01957941.
A family with a history of cavernous angiomas of the brain was investigated by MRI. The disease was present in four generations of the family and is consistent with autosomal dominant inheritance. Among affected individuals, there was considerable variability in the extent of intraparenchymal cavernomas and neurological symptoms as a result of bleeding events. Three siblings manifested with seizures, two affected persons were symptom free at the time of investigation, and one sibling had neurological symptoms without certain correlation with cavernomas. The disease appeared to have an earlier onset in younger generations.
一个有脑海绵状血管瘤病史的家族接受了磁共振成像（MRI）检查。该疾病在家族的四代人中都有出现，符合常染色体显性遗传。在受影响的个体中，脑实质内海绵状血管瘤的范围以及因出血事件导致的神经症状存在相当大的差异。三个兄弟姐妹表现为癫痫发作，两个受影响的人在检查时无症状，还有一个兄弟姐妹有神经症状，但与海绵状血管瘤没有明确关联。该疾病在较年轻一代中似乎发病更早。
