Neurofibromatosis type 1 complicated with clitoral hypertrophy: a case report

  •  ZHANG Zhigang ,
  • YE Bin ,
  • YU Yongguo ,
  • LI Xing ,
  • FANG Danfeng
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  • 1.Department of Pediatrics, Taizhou Central Hospital, Taizhou University School of Medicine, Taizhou 318000, Zhejiang, China; 2.Department of Endocrinology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China

Received date: 2018-12-15

  Online published: 2018-12-15

Abstract

 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.

Cite this article

 ZHANG Zhigang , YE Bin , YU Yongguo , LI Xing , FANG Danfeng . Neurofibromatosis type 1 complicated with clitoral hypertrophy: a case report[J]. Journal of Clinical Pediatrics, 2018 , 36(12) : 924 . DOI: 10.3969/j.issn.1000-3606.2018.12.010

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