舞蹈病-棘状红细胞增多症(附二例报告)

Chorea-acanthocytosis(Two Case Report)

目的了解舞蹈病-棘状红细胞增多症(chorea-acanthocytosis,ChAc)的临床表现及辅助检查特点,以便早期做出诊断。方法回顾分析2例ChAc患者的诊断过程,总结其临床表现、实验室检查、肌电图、头颅MRI及红细胞形态变化的特点。结果ChAc以舞蹈样不自主运动为主要临床表现,伴有肌酶增高,肌电图检查结果示失神经电位,MRI检查示脑萎缩,外周血可见棘状红细胞。结论ChAc是一种罕见的进展型、致命性神经系统运动障碍性疾病,目前治疗以对症支持为主,早期诊断有助于延长患者生命。

Objective To show the clinical features and the results of auxiliary examinations in chorea- acanthocytosis cases. Methods Two cases with chorea-acanthocytosis were reviewed. Their clinical descriptions, laboratory examinations, electromyograms, MRI and peripheral blood morphological characters were analysed. Results These two cases were diagnosed as chorea-acanthocytosis. Electromyographic examination showed signs of partial denervation of proximal and distal muscles. MRI showed caudate and sometimes more generalised atrophy with dilatation of the anterior horns. Acanthocytes were presented in the peripheral blood. Conclusions Chorea-acanthocytosis is a progressive, movement disorder even fatal. Treatment for this disorder is symptomatic and supportive. Patients lives could be prolonged by early time diagnosis.