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2岁女童患罕见快乐木偶综合症 每天拍手欢笑--亲稳舆论引导监测室
2013-03-13
孩子脸上挂着笑容本该是件让家长开心的事情,然而,长沙的陈女士每天看着女儿星星(化名)拍手欢笑,却是种难以言说的心痛。原来,陈女士刚刚拿到的检查结果告诉她,两岁半的女儿星星得了一种世界罕见的怪异疾病——快乐木偶综合症,这种病的发病率仅1/40000至1/10000。
Children face a smile was supposed to make parents happy thing,however,Changsha Chen daughter every day looking at the stars(Not his real name)Clap laugh,Is a heartache of ill-defined.The original,Ms Chen has just got the test results tell her,Two and a half years old, the daughter of the stars got a strange disease, rare in the happy puppet syndrome,The incidence of this disease is only 1/40000 to 1/10000.
据陈女士介绍,星星现在还不会走路,也不会说话,发育较同龄孩子慢。星星一直爱笑,总是一边微笑一边鼓掌。后来,陈女士渐渐发现女儿除微笑外无其他特殊表情。一个多月前,陈女士更是发现星星突然开始出现抽搐的症状,于是来到湖南省第二人民医院就诊。
According to Ms. Chen,The stars can't walk now,Could not speak,Slow growth is age children.The stars always love to laugh,Always smile and clap.later,Ms. Chen gradually find daughter besides smile no other special expression.More than a month ago,Ms Chen is found that the stars suddenly started to twitch symptoms,Then came the second people's hospital in hunan province.
据该院儿科主任薛亦男教授介绍,星星患上的是非常罕见的“快乐木偶综合症”。
According to the hospital of pediatrics professor xue also male director is introduced,The stars is very rare"Happy puppet syndrome".
“快乐木偶综合症” 又称天使综合症,是一种因基因缺陷而造成的疾病,90%患儿3岁后有癫痫发作。对这种遗传代谢性疾病,目前尚无法治愈,只能通过药物控制抽搐症状同时减轻抽搐对小儿生长发育的影响,或经过长期训练智力及运动能力可能有所提高。
"Happy puppet syndrome" Also known as angel syndrome,Is a disease caused by a genetic defect,90% of children 3 years old after seizures.To this kind of hereditary metabolic disease,It is cannot be cured,Only through drug control tics and mitigate the effects of tic on child growth and development,Or after a long training mental and motor ability could be improved.
薛亦男表示,目前的医学水平还无法预测哪些新生儿会患这种疾病,应从家族史方面考虑进行优生优育,如有此病家族史的夫妻,怀孕后建议进行羊水脱落细胞染色体检查,利于早期诊断。(记者 唐江澎 通讯员 杨文 晏芬)
Xue also said men,The current medical level it is impossible to predict which newborn babies will suffer from this disease,Eugenics from family history into consideration,If you have the disease family history of husband and wife,Proposal of amniotic fluid cells exfoliated chromosome examination after pregnancy,To facilitate early diagnosis.(Reporter Tang Jiangpeng correspondent Ellen pau YanFen)
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