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.
作者
张志刚
叶斌
余永国
李星
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)
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2018年第12期924-926,共3页
Journal of Clinical Pediatrics
