Gachechiladze Tamar, Koniashvili Otar, Tabatadze Nazhi, Melikishvili Mariam, Khachiashvili Gvantsa, Kurua Ekaterine, Kaiyrzhanov Rauan, Melikishvili Gia
Department of Pediatrics, MediClubGeorgia Medical Center, Tbilisi, Georgia.
Ivane Javakhishvili Tbilisi State University, Georgia; and.
Neurol Genet. 2025 Feb 14;11(2):e200242. doi: 10.1212/NXG.0000000000200242. eCollection 2025 Apr.
The -associated neurodevelopmental disorder is characterized by early-onset abnormal eye movements, seizures, ataxia, nonepileptic myoclonus, and developmental delay with only symptomatic treatment available. Opsoclonus-myoclonus-ataxia syndrome has similar features with well-established immunomodulatory treatment. We present a case of a patient with a de novo variant responsive to steroid pulse therapy and provide phenotypic-genotypic correlation based on our case and reported data.
Serial MRI of the brain, chest, abdomen, and pelvis; I-123 MIBG scintigraphy; long-term video-EEG; infectious disease screening; and trio-exome sequencing were performed, and urine levels of vanillylmandelic and homovanillic acids were measured. Ataxia and cerebellar symptoms were assessed using the SARA and Mitchell-Pike OMS scales. A PubMed and SCOPUS search for -related disorders was conducted until July 2024.
The de novo pathogenic variant in the gene (c.1051A>C, p.Ser351Arg) was identified. Pulsed IV methylprednisolone resulted in significant clinical improvement. The review of all existing cases, including ours, revealed clear genotype-phenotype correlation.
Our findings point to a possible causal relationship between the gene alteration and a subset of opsoclonus-myoclonus-ataxia syndrome, emphasizing the importance of genetic testing for this disease, especially with infantile onset and no identifiable cause. The significant improvement observed in our patient warrants further studies on steroids for -related disorders.
[疾病名称]相关的神经发育障碍的特征为早发性异常眼动、癫痫发作、共济失调、非癫痫性肌阵挛以及发育迟缓，目前仅有对症治疗方法。眼阵挛-肌阵挛-共济失调综合征具有相似特征且已有成熟的免疫调节治疗方法。我们报告一例对类固醇脉冲疗法有反应的新发[基因名称]变异患者病例，并根据我们的病例及已报道数据提供表型-基因型相关性分析。
对患者进行脑部、胸部、腹部和骨盆的系列磁共振成像（MRI）检查、I-123间碘苄胍（MIBG）闪烁显像、长期视频脑电图监测、传染病筛查以及三联外显子组测序，并测量尿香草扁桃酸和高香草酸水平。使用共济失调评定量表（SARA）和米切尔-派克眼运动失调用量表（Mitchell-Pike OMS）评估共济失调和小脑症状。截至2024年7月，在PubMed和SCOPUS数据库中检索与[疾病名称]相关的疾病。
鉴定出[基因名称]基因的新发致病变异（c.1051A>C，p.Ser351Arg）。静脉注射脉冲式甲泼尼龙后临床症状显著改善。对所有现有病例（包括我们的病例）的回顾揭示了明确的基因型-表型相关性。
我们的研究结果表明[基因名称]基因改变与眼阵挛-肌阵挛-共济失调综合征的一个亚组之间可能存在因果关系，强调了对该疾病进行基因检测的重要性，尤其是对于婴儿期发病且病因不明的情况。我们患者中观察到的显著改善值得对类固醇治疗[疾病名称]相关疾病进行进一步研究。
