王素梅中药治疗Xia-Gibbs综合征病例报告1例
增强出版One Case Report of Sumei Wang: Traditional Chinese Medicine in the Treatment of the Xia-Gibbs Syndrome
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1.北京中医药大学第三附属医院儿科,北京 100029
2.北京中医药大学东方医院儿科,北京 100078
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张雯, 孟艳丽, 王素梅. 王素梅中药治疗Xia-Gibbs综合征病例报告1例[DB/OL].(2022-09-06)[2023-11-05].http://cccl-tcm.cacm.org.cn/thesisDetails?columnId=29636395&Fpath=home&index=0
Wen ZHANG, Yanli MENG, Sumei WANG. One Case Report of Sumei Wang: Traditional Chinese Medicine in the Treatment of the Xia-Gibbs Syndrome[DB/OL].(2022-09-06)[2023-11-05].http://cccl-tcm.cacm.org.cn/thesisDetails?columnId=29636395&Fpath=home&index=0
张雯, 孟艳丽, 王素梅. 王素梅中药治疗Xia-Gibbs综合征病例报告1例[DB/OL].(2022-09-06)[2023-11-05].http://cccl-tcm.cacm.org.cn/thesisDetails?columnId=29636395&Fpath=home&index=0 DOI:
Wen ZHANG, Yanli MENG, Sumei WANG. One Case Report of Sumei Wang: Traditional Chinese Medicine in the Treatment of the Xia-Gibbs Syndrome[DB/OL].(2022-09-06)[2023-11-05].http://cccl-tcm.cacm.org.cn/thesisDetails?columnId=29636395&Fpath=home&index=0 DOI:
病史摘要,2,患儿周某,女,4岁,主因“语言发育迟缓”于2021年5月23日就诊于北京市东城中医院王素梅名老中医门诊。患儿3个月时因抬头欠佳,1岁不能走路、不会说话就诊于外院,后基因检测提示:AHDC1变异,考虑诊断Xia-Gibbs综合征,自5月龄开始行感统训练至今。为求系统治疗,来门诊就诊。四诊信息:走路不稳,身材矮小,双眼斜视,可表达吃饭、大小便需求,可进行简单、重复性言语,但缺乏主动言语。纳可,眠可,二便可。面色白,舌红,指纹浮,脉细。中医诊断 五迟 脾肾两虚,痰蒙清窍证西医诊断 1.全面发育迟缓;2.Xia-Gibbs综合征干预措施 以温补脾肾、化痰开窍为基本治法,给予附桂益智汤加减治疗。疗效转归 经过四个月治疗,患儿语言、运动进步明显,语言方面可背诵歌谣并有部分少量主动言语,与人对视时间增加,可独立走路。
Summary of case history ,Zhou, female, 4 years old, with her parents she was admitted to our specialist clinic for 'language development delay' on May 23, 2021. When she was three months years old,she couldn't look up like other babies. When she was one year ago, she couldn't walk and speak like other babies, too. Therefore, her parents took her to other hospital to see a doctor, Whole-exon sequencing revealed a de novo mutation in AHDC 1. She was received sensory integration training from 5 months old. Now her parents took her to our outpatient clinic in order to seek TCM treatment. Diagnostic information: she couldn't walk steadily by herself. She had short stature and esotropia in eyes. She had no spontaneous language, but retelling language. She could express basic physiological needs through gesture, such as eating and going to the restroom. What's more, she had good appetite, solid sleep and normal pee. Her face looked white. Her tongue was red. And the pulse felt thin.,TCM diagnosis ,five Kinds of Retardations, deficiency of spleen and kidney, symptom of mental confusion due to phlegm.,Western medicine diagnosis ,1. Global Developmental Delay; 2. Xia-Gibbs Syndrome,Therapeutic methods ,Treatment principle is warming and supplementing the spleen and kidney, and dissolving phlegm to open the orifices. Fugui Yizhi Tang is used to treatment.,Clinical outcomes ,The child made a great progress in language and walking. She could recite songs, had active language, looked at other's eyes for a few moment and walked by herself.
五迟附桂益智汤Xia-Gibbs综合征全面发育迟缓
five Kinds of Retardationsfugui Yizhi TangXia-Gibbs SyndromeGlobal Developmental Delay
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路通,吴冰冰,王艺.AHDC1基因突变致Xia-Gibbs综合征1例报告并文献复习[J]. 中国循证儿科杂志, 2018,13(3): 224-227.
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