1型神经纤维瘤病合并阴蒂肥大1例报告  

Neurofibromatosis type 1 complicated with clitoral hypertrophy:a case report

作　　者：张志刚[1] 叶斌[1] 余永国[2] 李星[1] 方丹枫 ZHANG Zhigang;YE Bin;YU Yongguo;LI Xing;FANG Danfeng(Department of Pediatrics,Taizhou Central Hospital,Taizhou University School of Medicine,Taizhou 318000,Zhejiang,China;Department of Endocrinology,Xinhua Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200092,China)

机构地区：[1]台州市中心医院儿科,浙江台州318000 [2]上海交通大学医学院附属新华医院儿童内分泌科,上海200092

出　　处：《临床儿科杂志》2018年第12期924-926,共3页Journal of Clinical Pediatrics

摘　　要：目的探讨1型神经纤维瘤病(NF1)的临床表现、诊断和治疗。方法回顾分析1例利用高通量测序技术确诊的合并阴蒂肥大的1型神经纤维瘤病患儿的临床资料,并复习相关文献。结果女性患儿,生后即发现牛奶咖啡斑伴阴蒂肥大。NF1基因检测结果c,655-7-655-2delTTTATA,为新发突变,有致病性。结论 NF1同时合并外生殖器异常者临床罕见。NF早期临床诊断困难,对疑似病例应尽早行基因检测确诊。Objective To explore the clinical manifestations,diagnosis and treatment of neurofibromatosis type 1(NF1).Method The clinical data of NF1 diagnosed by high throughput sequencing in a child were retrospectively analyzed and the related literature were reviewed.Results A female child was found milk coffee spots and clitoris hypertrophy immediately after birth.NF1 gene test showed C,655-7-655-2del TTTATA,which was a new pathogenic mutation.Conclusion NF1 combined with genital abnormalities is rare in clinic.Early diagnosis of NF is difficult,and suspected cases should be diagnosed as early as possible by genetic testing.

关 键 词：1型神经纤维瘤病 阴蒂肥大 先天性肾上腺皮质增生症 NF1基因 

分 类 号：R725.9[医药卫生—儿科]