A Case of Neurofibromatosis Type 1 Complicated with Bilateral Sensorineural Hearing Loss

Ruzhen GAO; Xinmiao FAN; Wei GU; Tengyu YANG; Zhuhua ZHANG; Tao WANG; Mingsheng MA; Zenan XIA; Hanhui FU; Yaping LIU; Xiaowei CHEN

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A Case of Neurofibromatosis Type 1 Complicated with Bilateral Sensorineural Hearing Loss

VernacularTitle:1型神经纤维瘤病合并双耳感音神经性耳聋一例
Author: Ruzhen GAO ¹ ; Xinmiao FAN ² ; Wei GU ² ; Tengyu YANG ² ; Zhuhua ZHANG ³ ; Tao WANG ⁴ ; Mingsheng MA ⁵ ; Zenan XIA ⁶ ; Hanhui FU ⁷ ; Yaping LIU ⁸ ; Xiaowei CHEN ²
Author Information

1. Department of Clinical Laboratory, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
2. Department of Otolaryngology, Head and Neck Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
3. Department of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
4. Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
5. Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
6. Department of Plastic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
7. Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
8. The Institute of Clinical Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
Publication Type:Journal Article
Keywords: neurofibromatosis type 1; hearing loss; cochlear implantation
From: JOURNAL OF RARE DISEASES 2025;4(3):348-354
CountryChina
Language:Chinese
Abstract:
Neurofibromatosis type 1 (NF1) presents with a diverse range of symptoms that can affect the skin, bones, eyes, central nervous system, and other organs. This article reports the diagnosis and treatment process of a patient with NF1 complicated by bilateral severe-to-profound sensorineural hearing loss. Genetic testing revealed a heterozygous variant of NF1 NM_ 000267.3: c.4054_ 4058del(p.Ser1352LeufsTer20, supporting the diagnosis of NF1. After thorough evaluation, a right cochlear implantation was performed, yielding satisfactory postoperative results. This case suggests that NF1 patients may exhibit phenotypic heterogeneity and atypicality, providing a reference for clinicians in the diagnosis and treatment of such patients.