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例一、男性15岁,从一岁起即有不典型癫痫样发作,但智力降低不明显。四岁半时癫痫样发作渐明显,且次数增多,智力也明显下降。九岁入学,终因成绩差四年级时被迫中途退学。家族中无类似疾病,父母否认近亲婚配,母孕时体健,患者为足月顺产第五胎。查体:发育一般,表情痴呆,发际较低,轻度鞍鼻,唇厚,舌体略厚,良两侧皮脂腺瘤呈蝶形分布,颈部可见数个带蒂之纤维瘤,腰部可见10余处脱色斑,共济运动欠协调,步态不灵活,走直线欠佳,双手轮替笨拙,病理征(-)。
Example 1, a man of 15 years old, from the age of one who has atypical seizures, but mental retardation is not obvious. Four and a half years of epileptic seizures became apparent, and the frequency increased, mental capacity also decreased significantly. At the age of nine, he was forced to drop out halfway because of his poor grades. No similar family disease, parents denied the marriage of inces, maternal health, the full-term fifth-child fetus. Physical examination: general development, dementia, low hairline, mild saddle nose, lip thickness, tongue slightly thick, good bilateral sebaceous glandular tumor was butterfly distribution, the number of pedunculated fibroids can be seen at the neck, waist visible More than 10 blemishes, uncooperative ataxia movement, inflexible gait, poor straight line, clumsy hands, pathological sign (-).