Rysz A, Gajkowski K, Empel A
Oddziału Neurologii CSK MSW w Warszawie.
Neurol Neurochir Pol. 1988 Sep-Oct;22(5):459-62.
In two sisters aged 36 and 38 years symmetrical calcifications were found in the vicinity of the pallidum in brain CT. In the younger sister epileptic seizures and transient focal signs were due to arrhythmias of the heart caused by mitral valve leaflet prolapse. In the second case no neurological signs were found. The calcifications were probably genetically determined suggesting an autosomal recessive inheritance. The described cases are another example of familial calcifications in basal ganglia without neurological changes.
在两名年龄分别为36岁和38岁的姐妹中,脑部CT显示苍白球附近有对称性钙化。较年轻的妹妹癫痫发作和短暂性局灶性体征是由二尖瓣叶脱垂引起的心律失常所致。在第二个病例中未发现神经学体征。这些钙化可能由基因决定,提示常染色体隐性遗传。所描述的病例是基底节区家族性钙化且无神经学改变的又一实例。