PDF(Pubmed)
Abstract：
UNASSIGNED: To explore the clinical characteristics, etiological factors, and clinical-related genetic variant of children with acute necrotizing encephalopathy (ANE) related to the Omicron BF.7.14 novel coronavirus.
UNASSIGNED: Genomic variations were detected through whole exome sequencing. Additionally, we summarized the clinical data to explore the inheritance patterns associated with novel coronavirus-related ANE.
UNASSIGNED: This study included four patients (2 males and 2 females) with an average age of 2.78 ± 1.93 years. All the patients had prodromal symptoms of Omicron BF.7.14 virus infection, and exhibited symptoms such as altered consciousness, seizures and cognitive/language disturbances. Cranial MRI scans revealed damage to the thalamus, basal ganglia and brainstem. The cerebrospinal fluid (CSF) cell counts were nearly normal, but protein level in CSF increased significantly. Genetic analysis revealed a novel truncated variant of CRMP2 gene in one patient who suffered more severe coma score and prognosis and dead in the later stages. All children exhibited a decrease in the absolute count of T lymphocytes, helper T cells, suppressor T cells, and NK cells to varying degrees. Furthermore, levels of cytokines, including IL-1 β, IL-5, IL-6 and IL-8 were significantly elevated in the CSF, especially in patient with truncated variant of CRMP2 gene.
UNASSIGNED: The Omicron BF.7.14 type novel coronavirus can lead to ANE, characterized by T cell immunosuppression and a significant increase in cytokine levels in the CSF. The truncated variation of CRMP2 gene may affect the prognosis of ANE by affecting the migration of cerebral T cells.
UNASSIGNED: Genomic variations were detected through whole exome sequencing. Additionally, we summarized the clinical data to explore the inheritance patterns associated with novel coronavirus-related ANE.
UNASSIGNED: This study included four patients (2 males and 2 females) with an average age of 2.78 ± 1.93 years. All the patients had prodromal symptoms of Omicron BF.7.14 virus infection, and exhibited symptoms such as altered consciousness, seizures and cognitive/language disturbances. Cranial MRI scans revealed damage to the thalamus, basal ganglia and brainstem. The cerebrospinal fluid (CSF) cell counts were nearly normal, but protein level in CSF increased significantly. Genetic analysis revealed a novel truncated variant of CRMP2 gene in one patient who suffered more severe coma score and prognosis and dead in the later stages. All children exhibited a decrease in the absolute count of T lymphocytes, helper T cells, suppressor T cells, and NK cells to varying degrees. Furthermore, levels of cytokines, including IL-1 β, IL-5, IL-6 and IL-8 were significantly elevated in the CSF, especially in patient with truncated variant of CRMP2 gene.
UNASSIGNED: The Omicron BF.7.14 type novel coronavirus can lead to ANE, characterized by T cell immunosuppression and a significant increase in cytokine levels in the CSF. The truncated variation of CRMP2 gene may affect the prognosis of ANE by affecting the migration of cerebral T cells.
摘要：
■为了探索临床特征，病因因素，与OmicronBF.7.14新型冠状病毒相关的急性坏死性脑病（ANE）儿童的临床相关遗传变异。
■通过全外显子组测序检测基因组变异。此外,我们总结了临床数据，以探讨与新型冠状病毒相关的ANE的遗传模式。
■这项研究包括4名患者（2名男性和2名女性），平均年龄为2.78±1.93岁。所有患者均有OmicronBF.7.14病毒感染的前驱症状，表现出意识改变等症状，癫痫发作和认知/语言障碍。头颅MRI扫描显示丘脑受损,基底神经节和脑干。脑脊液（CSF）细胞计数接近正常，但脑脊液中的蛋白质水平显著增加。遗传分析显示，在一名昏迷评分和预后更严重且在后期死亡的患者中，CRMP2基因的新型截短变体。所有儿童都表现出T淋巴细胞绝对计数的减少，辅助性T细胞，抑制性T细胞,和不同程度的NK细胞。此外，细胞因子的水平，包括IL-1β，IL-5、IL-6和IL-8在CSF中显著升高,特别是在CRMP2基因截短变异的患者中。
■OmicronBF.7.14型新型冠状病毒可导致ANE，其特征在于T细胞免疫抑制和CSF中细胞因子水平的显著增加。CRMP2基因的截短变异可能通过影响脑T细胞的迁移而影响ANE的预后。
■通过全外显子组测序检测基因组变异。此外,我们总结了临床数据，以探讨与新型冠状病毒相关的ANE的遗传模式。
■这项研究包括4名患者（2名男性和2名女性），平均年龄为2.78±1.93岁。所有患者均有OmicronBF.7.14病毒感染的前驱症状，表现出意识改变等症状，癫痫发作和认知/语言障碍。头颅MRI扫描显示丘脑受损,基底神经节和脑干。脑脊液（CSF）细胞计数接近正常，但脑脊液中的蛋白质水平显著增加。遗传分析显示，在一名昏迷评分和预后更严重且在后期死亡的患者中，CRMP2基因的新型截短变体。所有儿童都表现出T淋巴细胞绝对计数的减少，辅助性T细胞，抑制性T细胞,和不同程度的NK细胞。此外，细胞因子的水平，包括IL-1β，IL-5、IL-6和IL-8在CSF中显著升高,特别是在CRMP2基因截短变异的患者中。
■OmicronBF.7.14型新型冠状病毒可导致ANE，其特征在于T细胞免疫抑制和CSF中细胞因子水平的显著增加。CRMP2基因的截短变异可能通过影响脑T细胞的迁移而影响ANE的预后。
