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首页> 外文期刊>Audiological medicine >Is gross motor delay secondary to bilateral vestibular hypofunction in Jervell and Lange-Nielsen syndrome?
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Is gross motor delay secondary to bilateral vestibular hypofunction in Jervell and Lange-Nielsen syndrome?

机译：在Jervell和Lange-Nielsen综合征中，双侧前庭功能减退是否导致了严重的运动延迟？

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摘要

Jervell and Lange-Nielsen syndrome is a rare autosomal recessive condition characterized by bilateral profound sensorineural hearing loss, and prolonged QT interval that may result in ventricular tachycardia leading to syncope, cardiac arrest or sudden death. Treatment of the arrhythmias is often life-saving as this condition has a high mortality if untreated. We describe 3 cases of Jervell and Lange-Nielsen syndrome, who presented with profound sensorineural hearing loss and delayed gross motor milestones and have evidence of bilateral vestibular hypofunction on vestibular testing. We suggest that vestibular hypofunction is associated with this syndrome and evaluation of vestibular function may increase the diagnostic yield in the asymptomatic stage of this rare, but severe form of long QT syndrome. Clinicians should consider Jervell Lange-Nielsen in the differential diagnosis of 'non-syndromic' profound sensorineural hearing loss presenting with vestibular failure, along with Usher syndrome type 1, and morphological malformations of the vestibular apparatus. However, more studies are needed to confirm these findings.
机译：Jervell和Lange-Nielsen综合征是一种罕见的常染色体隐性遗传病，其特征是双侧严重的感觉神经性听力减退和QT间隔延长，可能导致室性心动过速导致晕厥，心脏骤停或猝死。心律不齐的治疗通常可以挽救生命，因为如果不及时治疗，这种疾病的死亡率很高。我们描述了3例Jervell和Lange-Nielsen综合征，这些病例表现为严重的感音神经性听力损失和延迟的总运动里程碑，并且在前庭试验中有双侧前庭功能低下的证据。我们建议前庭功能低下与该综合征相关，在这种罕见但严重的长QT综合征无症状阶段，前庭功能的评估可能会增加诊断率。临床医生应在Jervell Lange-Nielsen鉴别诊断为前庭衰竭，前卫性1型Usher综合征以及前庭器具的形态畸形的“非综合征”性严重感音神经性听力损失中。但是，需要更多的研究来证实这些发现。

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