Patient with an SLC26A4 gene mutation who had low-frequency sensorineural hearing loss and endolymphatic hydrops
Patient with an SLC26A4 gene mutation who had low-frequency sensorineural hearing loss and endolymphatic hydrops
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DOI：
10.1017/s0022215114003399
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发表时间：
2015-01-01
影响因子：
1.7
通讯作者：
Nakashima, T.
中科院分区：
文献类型：
--
作者：
Yoshida, T.;Sone, M.;Nakashima, T.
目的：报告1例SLC26A4基因突变的低频感音神经性聋患者的磁共振成像表现。经基因检测，发现SLC26A4基因c.1105A>；G(p.K369E)杂合突变。静脉注射Gd后4小时可见右侧耳蜗轻度内淋巴积水和左侧前庭明显内淋巴积水。结论：这是报道的首例SLC26A4基因突变C.1105A>；G(p.K369E)患者的低频感音神经性听力损失。耳蜗性内淋巴积液和前庭内淋巴积液的并存提示与该病理有关。
Objective: To report magnetic resonance imaging findings in a patient with an SLC26A4 gene mutation who had low-frequency sensorineural hearing loss.Case report: A 13-year-old girl had bilateral and symmetric low-frequency sensorineural hearing loss. Upon genetic testing, a heterozygous c.1105A>G (p.K369E) mutation of the SLC26A4 gene was detected. Mild endolymphatic hydrops in the right cochlea and marked endolymphatic hydrops in the left vestibulum were seen by magnetic resonance imaging 4 hours after an intravenous gadolinium injection.Conclusion: This is the first reported case of a patient with the SLC26A4 gene mutation c.1105A>G (p.K369E) who had low-frequency sensorineural hearing loss. Co-occurrence of cochlear and vestibular endolymphatic hydrops suggests an association with that pathology.