Derex L, Broussolle E, Martins A, Schiola C, Chazot G
Service de Neurologie, Hôpital Neurologique, Lyon.
Rev Neurol (Paris). 1995 Oct;151(10):559-62.
A family with two siblings presenting cerebral calcifications is reported. The sister was suffering from action tremor since the age of 10. The disease worsened by the age of 39. When aged 42, she was unable to walk and had severe rigidity and intellectual deterioration. She died at 43. The brother had mild debility. Action tremor started at the age of 14, without significant aggravation when seen at the age of 30. In both cases, brain CT scan showed calcifications of the dentate nuclei and cortical atrophy with ventricular enlargement. In addition, the sister had bilateral putaminal and pallidal calcifications. The other family members were unaffected and had normal CT scans. The nosology and the pathophysiology of this family report are discussed, particularly regarding the late occurrence of facial atrophy, reminiscent of the Cole-Engmann syndrome (Dyskeratosis Congenita).
报告了一个有两个患脑钙化症兄弟姐妹的家庭。姐姐从10岁起就患有动作性震颤。病情在39岁时恶化。42岁时，她无法行走，出现严重的僵硬和智力衰退。她于43岁去世。弟弟有轻度虚弱。动作性震颤始于14岁，30岁就诊时无明显加重。在这两个病例中，脑部CT扫描均显示齿状核钙化以及伴有脑室扩大的皮质萎缩。此外，姐姐还有双侧壳核和苍白球钙化。其他家庭成员未受影响，CT扫描结果正常。本文讨论了该家族报告的疾病分类学和病理生理学，特别是关于面部萎缩的晚期出现，这使人联想到科尔 - 恩格曼综合征（先天性角化不良）。
