Case Report: Benign Infantile Seizures Temporally Associated With COVID-19
Case Report: Benign Infantile Seizures Temporally Associated With COVID-19
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DOI：
10.3389/fped.2020.00507
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发表时间：
2020-08-06
影响因子：
2.6
通讯作者：
Aguilera-Albesa, Sergio
中科院分区：
文献类型：
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作者：
Garcia-Howard, Marcos;Herranz-Aguirre, Mercedes;Aguilera-Albesa, Sergio
背景：非发热性疾病惊厥可能出现在先前健康的儿童中，表现为与轻微感染（例如轻度胃肠炎或呼吸道感染）相关的无热惊厥，并且与遗传倾向有关。对于引起 COVID-19 的新型人类冠状病毒 SARS-CoV-2，发烧、咳嗽和胃肠道不适是儿童最常见的症状，并且可能存在过度免疫反应。迄今为止，儿科病例系列中尚未记录到详细的与时间相关的神经系统并发症。病例描述：我们介绍了一名 3 个月大女孩的病例，该女孩在 COVID-19 家庭环境中出现非发热性反复惊厥。婴儿开始出现轻微发烧和咳嗽症状，持续了两天。发病第 6 天，女孩出现两次局灶性运动性癫痫发作，意识和意识受损。所有检查均排除了脑膜脑炎或活动性癫痫的迹象，包括正常的脑电图和脑磁共振成像。鼻腔和咽喉拭子的 PCR 检测结果呈 SARS-CoV-2 阳性。值得注意的是，血液铁蛋白和 D-二聚体水平增加。第 9 天，婴儿再次出现非热性运动性惊厥，调整了左乙拉西坦剂量，随访 3 个月内出现良好反应。人们对疾病严重程度和对 COVID-19 易感性的宿主遗传决定因素产生了很大兴趣。因此，我们进行了全外显子组测序，揭示了母亲和婴儿的 PRRT2 基因中存在致病性移码突变。母亲曾出现过两次晚期婴儿热性惊厥，但后来均恢复正常。讨论：成人 COVID-19 病例中描述的超免疫反应也可以在婴儿中看到，即使没有呼吸道症状。此外，COVID-19 在婴儿中可能表现为非热性惊厥，引发具有遗传倾向的婴儿早发性惊厥。在这种大流行情况下，使用大规模测序的精准医学可以揭示驱动宿主对 COVID-19 反应的潜在分子机制。
Background:Non-febrile illness seizures may present in previously healthy children as afebrile seizures associated with minor infections, such as mild gastroenteritis or respiratory tract infections, and are linked to a genetic predisposition. For the novel human coronavirus SARS-CoV-2, causing COVID-19, fever, cough, and gastrointestinal complaints are the most common symptoms in children, and a hyperimmune response may be present. No detailed temporally associated neurological complications have been documented in pediatric case series so far. Case description:We present the case of a 3-months-old girl with non-febrile repeated seizures in a COVID-19 family setting. The infant started with a mild fever and cough that lasted for 2 days. At day 6 from onset, the girl presented with two focal motor seizures with impaired consciousness and awareness. All investigations ruled out signs of meningo-encephalitis or active epilepsy, including normal electroencephalogram and cerebral magnetic resonance imaging. PCR from nasal and throat swabs was positive for SARS-CoV-2. Remarkably, blood ferritin and D-dimer levels were increased. At day 9, the infant presented another afebrile motor seizure, and levetiracetam dose was modified there was a favorable response within 3 months of the follow-up. Much interest has been raised with regards to host genetic determinants to disease severity and susceptibility to COVID-19. We thus performed whole exome sequencing, revealing a pathogenic frameshift mutation in the PRRT2 gene in both the mother and the infant. The mother had presented two late infantile febrile convulsions with normal outcome afterwards. Discussion:The hyperimmune response described in adult cases with COVID-19 can be seen in infants, even in the absence of respiratory symptoms. Moreover, COVID-19 may present in infants as non-febrile seizures, triggering early onset seizures in infants with a genetic predisposition. In this pandemic situation, precision medicine using massive sequencing can shed light on underlying molecular mechanisms driving the host response to COVID-19.