舞蹈症-棘红细胞增多症的早期识别和筛查

Early detection and screening for chorea-acanthocytosis

摘要:

目的 探讨舞蹈症-棘红细胞增多症（chorea-acanthocytosis，ChAc）临床特点，为该病早期诊断提供思路和方法。方法 通过回顾性研究，总结ChAc临床特点。结果 符合舞蹈样运动障碍的患者中，ChAc占29%，确诊时间中位值为5.5年。患者的发病年龄为（33.57±12.23）岁；7例（100%）均有口腔运动障碍，4例（57%）出现癫痫（全面强直阵挛发作），6例（86%）出现腱反射减弱或消失，5例（71%）肌酸激酶增高；头颅磁共振可见尾状核尤其尾状核头（57%）和豆状核（29%）萎缩，侧脑室前角扩大（57%）；正电子发射断层显像（positron emission tomography，PET）-电子计算机断层扫描（computed tomography，CT）可见双侧基底节区低代谢表现（43%）。所有患者均可见棘红细胞比例大于3%，基因测序29%可发现责任基因VPS13A突变。结论 ChAc的确诊时间长，口腔运动障碍、肌酸激酶增高有助于尽早识别。建议舞蹈症患者常规进行2次以上的外周血涂片，进而再进行基因检测确立诊断。

Abstract:

Objective To explore the clinical characteristics of chorea-acanthocytosis（ChAc）and provide ideas and methods for early diagnosis of the disease.Methods We summarized the clinical characteristics of ChAc through the retrospective cohort study.Results In all the patients diagnosed with chorea，ChAc counted for 29%. The median time of diagnosis was 5.5 years. The mean onset age was（33.57±12.23）years. Seven cases（100%） had oral dyskinesia. Epilepsy occurred in 4 cases（57%），and the seizure type was generalized tonic-clonic seizure. Hypotonia and hyporeflexia were reported in 6 cases（86%）. Plasma creatine kinase increased in 5 cases（71%）. Cranial MRI showed atrophy of caudate nucleus（57%） and pannucleus（29%），and enlargement of both anterior horns of lateral ventricle（57%）. Positron emission tomography（PET）-computed tomography（CT） showed decreased metabolism of bilateral basal ganglia（43%）. All cases were confirmed by the proportion of acanthocytes in peripheral blood smear higher than 3%，and 29% gene sequencing revealed mutation of responsible gene VPS13A.Conclusion The diagnosis time of ChAc is long，and early diagnosis depends on clinical manifestations of oral dyskinesia and creatine kinase elevation. We suggest that chorea patients routinely undergo more than twice of peripheral blood smears，followed by genetic testing to confirm the diagnosis.