Vancura Jenae, Banerjee Abhik K, Boyd Natalie K, Kazerooni Lilia, Nishimori Nicole A, Ferris Ruby, Vogel Benjamin N, Nguyen Lina, Santoro Jonathan D
Keck School of Medicine of the University of Southern California, Los Angeles.
Division of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, CA; and.
Neurol Genet. 2025 Jan 16;11(1):e200239. doi: 10.1212/NXG.0000000000200239. eCollection 2025 Feb.
We detail a case of recurrent, postinfectious, cerebellar ataxia associated with a likely pathogenic previously documented gene variant in .
The patient was identified after her second hospitalization for postinfectious cerebellar ataxia. Genetic testing was performed after discharge.
An 11-year-old girl with 1 prior episode of self-resolving parainfectious acute cerebellar ataxia at age 4 years presented with acute-onset ataxia, dysarthria, and gait instability in the setting of influenza A infection. The patient had CSF pleocytosis but negative influenza PCR and antibody detection in the CSF. Because of clinical deterioration, she received empiric IV methylprednisolone without improvement. She was subsequently administered IVIg and improved dramatically over the subsequent 7 days. The patient was found to have a rare de novo gene (c.3028G>A, p.(Glu1010Lys)) variant previously reported in the literature. The variant was analyzed to have a Combined Annotation Dependent Depletion score of 33 and Polyphen-2 score of 1.0 and was determined to be likely pathogenic according to American College of Medical Genetics PP3 and PM2 criterion.
Recurrent episodes of cerebellar ataxia are an especially rare occurrence, and genetic testing may be warranted in these individuals. It is possible that immunotherapy with IVIg may augment clinical outcomes in those with pathogenic gene variants.
我们详细介绍了一例复发性感染后小脑共济失调病例，该病例与先前记录的一个可能致病的基因变异有关。
该患者在因感染后小脑共济失调第二次住院后被确诊。出院后进行了基因检测。
一名11岁女孩，4岁时曾有1次自愈性感染后急性小脑共济失调发作，此次在甲型流感感染后出现急性共济失调、构音障碍和步态不稳。患者脑脊液有细胞增多，但脑脊液中流感病毒PCR检测及抗体检测均为阴性。由于临床症状恶化，她接受了经验性静脉注射甲基强的松龙治疗，但病情无改善。随后她接受了静脉注射免疫球蛋白治疗，并在接下来的7天内显著好转。该患者被发现有一个罕见的新生基因（c.3028G>A，p.(Glu1010Lys)）变异，此前文献中有报道。该变异的综合注释依赖损耗评分33分，多聚phen-2评分1.0分，根据美国医学遗传学学院PP3和PM2标准，确定为可能致病。
小脑共济失调的复发极为罕见，这些患者可能需要进行基因检测。静脉注射免疫球蛋白免疫治疗可能改善携带致病基因变异患者的临床结局。
