一名 SCN2A 变异患者对皮质类固醇有反应的紧张症。

IF 2.8 3区 医学 Q2 GENETICS & HEREDITY American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-07-26 DOI:10.1002/ajmg.c.32101
Kimberly Senko, Kelsey L Saddoris, Ella Baus, Katherine Soe, Samuel E Vaughn
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引用次数: 0

摘要

SCN2A 变异是自闭症谱系障碍(ASD)的一个已知风险因素。紧张症是一种复杂的神经精神综合征,在 ASD 患者中发病率较高。紧张症也与 COVID-19 感染有关,但这些病例大多与血清炎症指标升高有关。我们介绍了一例患有 ASD 和皮质类固醇反应性昏迷性紧张症的 15 岁女性病例,以探讨 SCN2A 变体、ASD、COVID-19 暴露和治疗难治性紧张症之间的关系。尽管该患者的血清或脑脊液炎症标志物没有明显升高,但在开始接受皮质类固醇治疗后病情有了明显改善。该病例为检查和治疗SCN2A变体患者的紧张症提供了一种不受炎症标志物升高影响的新方法。
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Catatonia responsive to corticosteroids in a patient with an SCN2A variant.

Variants in SCN2A are a known risk factor for developing autism spectrum disorder (ASD). Catatonia is a complex neuropsychiatric syndrome, which occurs at a higher rate in individuals with ASD. Catatonia has also been associated with COVID-19 infection, though the majority of these cases are associated with increased serum inflammatory markers. We present a case of a 15-year-old female with ASD and corticosteroid responsive stuporous catatonia to explore the relationship between SCN2A variants, ASD, COVID-19 exposure, and treatment refractory catatonia. Despite a lack of significantly elevated serum or CSF inflammatory markers, this patient showed significant improvement following initiation of corticosteroid therapy. This case presents a novel approach to the work-up and treatment of catatonia in individuals with SCN2A variants independent of elevated inflammatory markers.

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来源期刊
CiteScore
7.00
自引率
0.00%
发文量
42
审稿时长
>12 weeks
期刊介绍: Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG) , serves as both an educational resource and review forum, providing critical, in-depth retrospectives for students, practitioners, and associated professionals working in fields of human and medical genetics. Each issue is guest edited by a researcher in a featured area of genetics, offering a collection of thematic reviews from specialists around the world. Seminars in Medical Genetics publishes four times per year.
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