例1.女,10岁。第2胎,足月顺产。2岁会走,至今仅会说简单话,不识数,3岁后看物近视,4岁起反复惊厥。父母健康,非近亲婚配。同胞4人,其姐健,妹、弟同样发病。体检:身长148cm、指距150cm,表情愚呆,身材瘦长,毛发纤细,色棕黄。心音纯,律整,100次/分,指、趾细长,左右眼视力1米数指,瞳孔不等大,双晶体不全脱位。脑电图示广泛中度异常、阵发性棘慢波发放。切面超声心动图:心内结构未见异常。脑 CT 扫描:脑实质内可见点状高密度灶。WISC—A Example 1. Female, 10 years old. The second child, full-term delivery. 2-year-old will go, so far will only say simple words, anonymous, after 3 years old to see myopia, 4-year-old repeatedly convulsions. Parents health, non-relatives marriage. 4 fellow compatriots, their sister-in-law, sister, brother the same disease. Physical examination: length 148cm, finger distance 150cm, dull expression, slim, slender hair, color brown. Heart sounds pure, law, 100 times / min, refers to, toe slender, about 1 meter left and right eyes vision means that the pupil ranging from large, double crystal dislocation. EEG showed a wide range of moderate anomalies, paroxysmal spikes and waves issued. Echocardiography: no abnormalities in the structure of the heart. Brain CT scan: visible parenchyma within the parenchyma high density lesions. WISC-A