关键词: dynamin 1 encephalopathy epileptic seizures norovirus whole-exome dna sequencing

来  源:   DOI:10.7759/cureus.60748   PDF(Pubmed)

Abstract:
Epileptic seizures can be worsened by infections; however, they sometimes disappear or decrease after an acute viral infection, although this is rare. We report the spontaneous remission of epileptic seizures following norovirus-induced viral gastroenteritis in a boy with DNM1 encephalopathy. He had clonic seizures daily from the age of two months and developed epileptic spasms at 14 months of age; he was admitted to the hospital at this time. A physical examination revealed hypotonia, strabismus, tongue protrusion with drooping, and widely spaced teeth. Although brain magnetic resonance imaging was unremarkable, electroencephalography revealed frequent occipital spikes. Three days after admission, the patient developed frequent diarrhea without a fever. A rapid immunochromatographic test of norovirus in a stool sample was positive. Immediately after the appearance of diarrhea, the epileptic seizures disappeared. Currently, at the age of five years, the patient has a profound psychomotor developmental delay; he has no verbal expression and is unable to walk. He has experienced involuntary movements of the myoclonus since 10 months of age. Whole-exome sequencing of the patient\'s DNA revealed the presence of a heterozygous de novo variant of DNM1: c.709C>T (p.Arg237Trp). Although the findings from our patient suggest that underlying neural network abnormalities were ameliorated by immunological mechanisms as a result of the viral infection, further research is needed to clarify the mechanisms behind this spontaneous remission of seizures.
摘要:
癫痫发作可因感染而恶化;然而,它们有时在急性病毒感染后消失或减少,虽然这是罕见的。我们报道了一名患有DNM1脑病的男孩在诺如病毒引起的病毒性胃肠炎后癫痫发作的自发缓解。从两个月大开始,他每天都有阵挛性癫痫发作,并在14个月大时出现癫痫性痉挛;此时他被送进医院。体格检查显示肌张力减退,斜视,舌头突出下垂,和宽间隔的牙齿。尽管脑部磁共振成像并不明显,脑电图显示频繁的枕骨尖峰。入院三天后,病人出现频繁腹泻而不发烧。粪便样本中诺如病毒的快速免疫层析检测呈阳性。腹泻出现后立即出现,癫痫发作消失了。目前,五岁的时候,患者有严重的精神运动发育迟缓;他没有言语表达,无法行走。自10个月大以来,他经历了肌阵挛症的非自愿运动。患者DNA的全外显子组测序显示存在DNM1的杂合从头变体:c.709C>T(p。Arg237Trp)。虽然从我们的病人的研究结果表明,潜在的神经网络异常被改善的免疫机制作为病毒感染的结果,需要进一步的研究来阐明癫痫自发缓解背后的机制.
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