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.

肌生成调节糖苷酶 ( MYORG ) 基因的变异体，该基因被称为第一个与原发性家族性脑钙化 (AR-PFBC) 相关的常染色体隐性遗传基因。尽管已经报告了成年患者，但到目前为止还没有报告任何儿科病例。在此，我们回顾了迄今为止报告的所有具有MYORG基因双等位基因变异的 AR-PFBC 患者的临床和放射学特征，并报告了最年轻的具有新型纯合变异的患者。自2018年首次鉴定出MYORG基因以来，74例MYORG评估了与 AR-PFBC 相关的变体。患者出现症状的年龄介于 7.5 至 87 岁之间。最常见的临床过程是语言障碍、运动障碍和小脑体征。所有患者均显示基底节钙化，通常为双侧，严重程度不同。结论; 在这里，我们报道了文献中第一个在MYORG基因中具有新的纯合子变异且临床发现轻微的儿科患者。