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结节性硬化(TS)家族发生率为14%～44%,呈显性遗传。作者研究了至少有1个子代发生TS的60对双亲(平均年龄37.3岁),观察MRI是否有助于判断轻症TS病人有无其它影响子代的危险。结果62对配偶中除2对材料不全外,44对(73.3%)未发现TS的证据;8对除有白质小的高信号灶外亦无TS证据,小的信号灶比见于TS者均小;另8例(13.3%)通过家族史、体检和其它检查(包括MRI)确诊为TS,其中MRI显著异常3对、轻度异常3对、正常2对。仅1对配偶一方体检正常而通过MRI确诊TS。27对配偶作了CT,只2对呈典型TS表现。作者指出:只有1个TS子代、体检正常也无家族中其它成员受累的配偶,MRI不易
Tuberous sclerosis (TS) family incidence of 14% to 44%, was dominant inheritance. The authors studied 60 pairs of parents (mean age 37.3 years) with TS in at least one offspring and looked at whether MRI was helpful in judging whether other patients with mild TS were at risk for other offspring. Results There were no evidences of TS in 44 out of 62 couples (73.3%) except for 2 pairs of spikes. 8 There was also no evidence of TS except for high signal lesions with small white matter. Small signal lesions were smaller than those seen in TS ; The other 8 cases (13.3%) were diagnosed as TS by family history, physical examination and other tests (including MRI). There were 3 abnormalities of MRI, 3 pairs of mild abnormalities and 2 pairs of normal ones. Only one of the spouses is undergoing a physical examination and the TS is confirmed by MRI. 27 pairs of spouses made CT, only 2 pairs showed a typical TS performance. The authors point out that there is only one TS progeny that has a normal medical examination and no other spouses involved in the family, and MRI is not easy