PDF(Pubmed)
Abstract：
Parkinsonism-dystonia-2 PKDYS2 is an autosomal-recessive disorder, caused by pathogenic biallelic variants in SLC18A2 which encodes the vesicular monoamine transporter (VMAT2) protein. PKDYS2 is a treatable neurotransmitter disease, and the rate of diagnosis of this disorder has increased significantly with the advance of genomic technologies. Our report highlights a novel pathologic variant in one case and a novel finding on MRI Brain, consisting of a normal symmetrical signal intensity in the dorsal brainstem and pons, and it substantiates the significance of genetic testing in the evaluation of children with developmental delays, which influences clinical decisions to enhance patient outcomes.
摘要：
帕金森病-肌张力障碍-2PKDYS2是一种常染色体隐性遗传疾病，由SLC18A2中的致病性双等位基因变体引起，该变体编码囊泡单胺转运蛋白（VMAT2）。PKDYS2是一种可治疗的神经递质疾病，随着基因组技术的进步，这种疾病的诊断率显着提高。我们的报告强调了一个病例的新病理变异和MRI脑部的新发现，由背侧脑干和脑桥的正常对称信号强度组成，它证实了基因检测在评估发育迟缓儿童中的重要性，影响临床决策以提高患者预后。
