Hyperekplexia: A Single-Center Experience.

IF 2 4区 医学 Q3 CLINICAL NEUROLOGY
Journal of Child Neurology Pub Date : 2024-06-01 Epub Date: 2024-07-25 DOI:10.1177/08830738241263243
Merve Hilal Dolu, Gökçen Öz Tunçer, Ünal Akça, Seren Aydın, Oğuzhan Bahadir, Özlem Sezer, Ayşe Aksoy, Haydar Ali Taşdemir
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引用次数: 0

Abstract

Background: Hyperekplexia is a rare neurogenetic disorder that is classically characterized by an exaggerated startle response to sudden unexpected stimuli. This study aimed to determine clinical and genetic characteristics of our patients with hyperekplexia.

Methods: The age of onset and diagnosis, familial and perinatal history, clinical course, complications, metabolic screening tests, magnetic resonance imaging (MRI), medications, neuropsychometric evaluations, and gene mutations of patients diagnosed with hyperekplexia were reviewed retrospectively.

Results: All hyperekplexia patients had displayed neonatal excessive startle response and muscle stiffness, which we accepted as the major form of the disorder. Sixteen patients had mutations in genes associated with hyperekplexia. The ages at clinical diagnosis and genetic confirmation ranged from newborn to 16 years old and from 2.5 to 19 years, respectively. Nine patients (56.25%) were initially misdiagnosed with epilepsy. Seven patients (43.75%) carried a diagnosis of intellectual disability, defined here as a total IQ <80. Delayed gross motor development was detected in 4 patients (25%), and speech delay was reported in 3 (18.75%). Mutations in GLRA1 (NM_000171.4) and SLC6A5 (NM_004211.5) were identified in 13 (81.25%) and 3 patients (18.75%), respectively. Fifteen of the 16 patients (93.75%) showed autosomal recessive inheritance. Only 1 patient (6.25%) showed autosomal dominant inheritance.

Conclusion: Although hyperekplexia is a potentially treatable disease, it can be complicated by delayed speech and/or motor acquisition and also by intellectual disability. This study shows that hyperekplexia is not always a benign condition and that all patients diagnosed with hyperekplexia should be evaluated for neuropsychiatric status and provided with genetic testing.

亢进症:单中心经验
背景:过度惊厥是一种罕见的神经遗传性疾病,其典型特征是对突如其来的刺激做出夸张的惊跳反应。本研究旨在确定过度惊厥患者的临床和遗传特征:方法:对确诊为过度惊厥症患者的发病年龄和诊断、家族史和围产期史、临床过程、并发症、代谢筛查试验、磁共振成像(MRI)、药物、神经心理评估和基因突变进行回顾性研究:结果:所有过度惊厥患者都表现出新生儿期过度惊吓反应和肌肉僵硬,我们认为这是该病的主要形式。16名患者与过度惊厥症相关的基因发生了突变。临床诊断和基因确认的年龄分别为新生儿至 16 岁和 2.5 岁至 19 岁。九名患者(56.25%)最初被误诊为癫痫。7名患者(43.75%)被诊断为智力残疾,在此定义为总智商 GLRA1 (NM_000171.4) 和 SLC6A5 (NM_004211.5) 分别在 13 名患者(81.25%)和 3 名患者(18.75%)中被鉴定出来。16 名患者中有 15 名(93.75%)表现为常染色体隐性遗传。结论:结论:虽然言语发育迟缓症是一种可以治疗的疾病,但它可能会因言语和/或运动发育迟缓以及智力障碍而变得复杂。这项研究表明,眼球震颤症并不总是一种良性疾病,所有确诊为眼球震颤症的患者都应接受神经精神状况评估和基因检测。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Journal of Child Neurology
Journal of Child Neurology 医学-临床神经学
CiteScore
4.20
自引率
5.30%
发文量
111
审稿时长
3-6 weeks
期刊介绍: The Journal of Child Neurology (JCN) embraces peer-reviewed clinical and investigative studies from a wide-variety of neuroscience disciplines. Focusing on the needs of neurologic patients from birth to age 18 years, JCN covers topics ranging from assessment of new and changing therapies and procedures; diagnosis, evaluation, and management of neurologic, neuropsychiatric, and neurodevelopmental disorders; and pathophysiology of central nervous system diseases.
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