以锥体外系为首发症状的家族性棘红细胞增多症2例临床分析  

Clinical analysis of neuroacanthocytosis:two case report

作　　者：湛彦强[1] 曾非[1] 段申汉[1] 曾庆杏[1] 张兆辉[1] 

机构地区：[1]武汉大学人民医院神经内一科,430060

出　　处：《卒中与神经疾病》2017年第5期447-449,共3页Stroke and Nervous Diseases

摘　　要：目的提高对首发为中枢神经系统锥体外系表现的棘红细胞增多症的临床表现、诊断与治疗方法及细胞学病理学特征的认识及鉴别。方法报道2例棘红细胞增多症患者的临床表现、辅助检查及诊治过程。结果 2例患者为青年兄妹,慢性病程,逐渐加重,主要表现均为舞蹈样不自主运动,血常规均可见红细胞形态异常,进一步行血液细胞学染色,光镜下可见棘形红细胞增多,且随病程增长,畸形红细胞比例逐渐增多,临床症状可能与棘红细胞比例有关。该病例具有家族性,兄妹血液细胞病理学特征及临床表现均类似。结论对于年轻舞蹈样锥体外系病变,需考虑棘红细胞增多症可能,及时行血液细胞学形态检查可迅速确诊。目前此病尚无有效治疗手段,总体预后不佳。Objective To provide insight into the clinical manifestation,histopathology characteristics,diagnostic and therapeutic methods of neuroacanthocytosis. Methods The clinical,auxiliary examination and pathological data of two patients with neuroacanthocytosis were presented,and the relevant literature was reviewed. Results A young male patient had a 9-year history of ingravescent choreiform movement,and his blood routine examination showed dysmorphic red cells. His sister also had a 3-year history of similar symptoms. Further erythrocytic pathological dyeing both showed acanthoid erythrocytes abnormally increased under the light microscope. The amount of abnormal acanthoid erythrocytes accumulated with the progression of disease,which revealed a positive correlation with the clinical symptoms. These two cases also showed a familial aggregation as brother and sister had similar clinical symptoms and pathological staining of erythrocyte. Conclusion Neuroacanthocytosis should be considered in young patients with ingravescent choreiform movement and the earliest erythrocytic pathological dyeing was required for early diagnosis. There were no effective therapeutic methods for neuroacanthocytosis and the prognosis is quite poor.

关 键 词：棘红细胞增多症 舞蹈症 诊断 

分 类 号：R742.2[医药卫生—神经病学与精神病学]