Varga L, Jovankovicova A, Huckova M, Demesova L, Gasperikova D, Sebova I, Profant M
Bratisl Lek Listy. 2019;120(9):699-702. doi: 10.4149/BLL_2019_118.
The aim of our study is to demonstrate a causal link between two distinct diagnoses, the hereditary hearing loss, and the sudden sensorineural hearing loss.
Sudden sensorineural hearing loss is an emergency condition in otolaryngology and a rare diagnosis in childhood. Most often it only affects one ear and its cause remains unknown.
We present a clinical study of a 10-year-old female patient presenting with bilateral sudden sensorineural hearing loss analyzed by Sanger sequencing of the GJB2 gene.
The subject was referred to the hospital for bilateral sudden hearing loss which developed 3 days before the admission. Audiometric testing confirmed bilateral asymmetric sensorineural hearing loss. All routine diagnostic procedures including MRI and CT imaging showed normal results. She was treated with intravenous and intratympanic corticosteroids followed by hyperbaric oxygen therapy with partial hearing recovery in one ear. DNA analysis of the GJB2 gene identified biallelic c.35delG deletion. The subject had no other affected family members and her auditory development to that time was normal.
Our finding extends the knowledge on phenotype variability in GJB2 variants. We suggest considering genetic testing in pediatric cases of bilateral sudden sensorineural hearing loss (Tab. 1, Fig. 4, Ref. 24).
我们研究的目的是证明两种不同诊断之间的因果关系，即遗传性听力损失和突发性感音神经性听力损失。
突发性感音神经性听力损失是耳鼻喉科的一种急症，在儿童中是一种罕见的诊断。它最常只影响一只耳朵，其病因仍然不明。
我们对一名10岁女性患者进行了临床研究，该患者出现双侧突发性感音神经性听力损失，并通过对GJB2基因进行桑格测序进行分析。
该患者因入院前3天出现的双侧突发性听力损失被转诊至医院。听力测试证实为双侧不对称感音神经性听力损失。包括MRI和CT成像在内的所有常规诊断程序结果均正常。她接受了静脉和鼓室内注射皮质类固醇治疗，随后进行高压氧治疗，一只耳朵听力部分恢复。对GJB2基因的DNA分析确定了双等位基因c.35delG缺失。该患者没有其他受影响的家庭成员，到那时她的听觉发育正常。
我们的发现扩展了关于GJB2基因变异表型变异性的知识。我们建议在双侧突发性感音神经性听力损失的儿科病例中考虑进行基因检测（表1，图4，参考文献24）。
