Baskent University, Faculty of Medicine, Department of Pediatric Neurology, Adana Dr. Noyan Teaching and Medical Research Center, Adana, Turkey.
Baskent University, Faculty of Medicine, Department of Pediatric Neurology, Adana Dr. Noyan Teaching and Medical Research Center, Adana, Turkey.
Brain Dev. 2021 Aug;43(7):789-797. doi: 10.1016/j.braindev.2021.04.002. Epub 2021 May 4.
Variants in the myogenesis-regulating glycosidase (MYORG) gene which is known as the first autosomal recessive gene that has been associated with primary familial brain calcification (AR-PFBC). Although adult patients have been reported, no pediatric case has been reported until now. Herein, we review the clinical and radiological features of all AR- PFBC patients with biallelic variants in the MYORG gene who were reported until now, and we report the youngest patient who has a novel homozygous variant. Since the first identification of the MYORG gene in 2018, 74cases of MYORG variants related to AR-PFBC were evaluated. The ages of symptom onset of the patients ranged between 7.5 and 87 years. The most frequent clinical courses were speech impairment, movement disorder and cerebellar signs. All patients showed basal ganglia calcification usually bilaterally with different severities. Conclusion; herein, we reported the first pediatric patient in the literature who had a novel homozygous variant in the MYORG gene with mild clinic findings.
已知 MYORG 基因（第一个与原发性家族性脑钙化症（AR-PFBC）相关的常染色体隐性基因）中的变异与原发性家族性脑钙化症有关。尽管已经报道了成年患者，但迄今为止尚未报道儿科病例。在此，我们回顾了迄今为止报道的所有 MYORG 基因中存在双等位基因突变的 AR-PFBC 患者的临床和放射学特征，并报告了首例具有新型纯合变异的最小患者。自 2018 年首次鉴定出 MYORG 基因以来，共评估了 74 例与 AR-PFBC 相关的 MYORG 变体病例。患者的症状发作年龄在 7.5 至 87 岁之间。最常见的临床病程是言语障碍、运动障碍和小脑体征。所有患者均显示基底节钙化，通常双侧，严重程度不同。结论；在此，我们报道了首例文献中的儿科患者，该患者具有 MYORG 基因的新型纯合变异，临床表现较轻。
