Zhao Ming-Ming, Feng Liang-Shu, Hou Shuai, Shen Ping-Ping, Cui Li, Feng Jia-Chun
Department of Neurology and Neuroscience Center, the First Hospital of Jilin University, Changchun 130021, Jilin Province, China.
World J Clin Cases. 2019 Feb 6;7(3):389-395. doi: 10.12998/wjcc.v7.i3.389.
Gerstmann-Sträussler-Scheinker (GSS) disease is an inherited prion disease that is clinically characterized by the early onset of progressive cerebellar ataxia. The incidence of GSS is extremely low and it is particularly rare in China. Therefore, clinicians may easily confuse this disease with other diseases that also cause ataxia, resulting in its under-diagnosis or misdiagnosis.
Here, we report the first case of genetically diagnosed GSS disease in Northeast China. The patient exhibited typical ataxia and dysarthria 2.5 years after symptom onset. However, magnetic resonance imaging of the brain and spinal cord revealed a normal anatomy. Screening results for the spinocerebellar ataxia gene were also negative. We thus proposed to expand the scope of genetic screening to include over 200 mutations that can cause ataxia. A final diagnosis of GSS was presented and the patient was followed for more than 3.5 years, during which we noted imaging abnormalities. The patient gradually exhibited decorticate posturing and convulsions. We recommended administration of oral sodium valproate, which resolved the convulsions.
Patients with inherited ataxia should be considered for a diagnosis of GSS genetic testing at an early disease stage.
格斯特曼-施特劳斯勒-谢inker（GSS）病是一种遗传性朊病毒病，临床特征为早期出现进行性小脑共济失调。GSS的发病率极低，在中国尤其罕见。因此，临床医生可能容易将这种疾病与其他也导致共济失调的疾病混淆，导致其诊断不足或误诊。
在此，我们报告中国东北地区首例经基因诊断的GSS病病例。患者在症状出现2.5年后出现典型的共济失调和构音障碍。然而，脑和脊髓的磁共振成像显示解剖结构正常。脊髓小脑共济失调基因的筛查结果也为阴性。因此，我们建议扩大基因筛查范围，包括200多种可导致共济失调的突变。最终诊断为GSS，并对患者进行了超过3.5年的随访，在此期间我们注意到影像学异常。患者逐渐出现去皮质强直姿势和抽搐。我们建议给予口服丙戊酸钠，抽搐得以缓解。
对于遗传性共济失调患者，应在疾病早期考虑诊断为GSS并进行基因检测。
