舞蹈病-棘状红细胞增多症临床研究(附两例报道)

目的 探讨舞蹈病-棘状红细胞增多症(ChAc)的临床特征、辅助检查特点及治疗方法.方法 回顾性分析郑州大学第一附属医院神经内科收治的2例ChAc患者的临床资料.结果 ChAc以舞蹈样不自主运动为主要临床表现,以唇、舌自咬为典型特点,伴有外周血棘状红细胞增多,可有癫痫、周围神经损害、认知-精神障碍、肌酶谱增高及尾状核萎缩,治疗上以对症支持为主.结论 ChAc是一种罕见的进行性遗传性神经系统变性病,其诊断主要依靠临床表现、周围血棘红细胞计数增高、特征性的影像学表现及电生理改变.该病预后差,因此对疑似病例及时行外周血涂片等检查以便早期诊断、及时治疗.

Abstract：

Objective To investigate the clinical symptoms, the results of auxiliary examinations and treatment ofchorea-acanthocytosis (ChAc). Methods Retrospective analysis of the clinical data of 2 patients with ChAc were performed. Results The main clinical symptoms of ChAc were involuntary choreiform movement, with its typical characteristic of habitual tongue and lip biting; increased amount of acanthocytes in the peripheral blood was noted; epileptic seizure, peripheral nerve injury, cognitive impairment and psychiatric symptoms, elevated muscular enzyme spectrum and shrinked caudate nucleus might appear. Symptomatic and supportive treatments were needed. Conclusion ChAc is a rare progressive hereditary neurodegenerative disease. The clinical features, increased amount of acanthocyte in the peripheral blood, characteristic imaging findings and electrophysiologic changes can be help in the diagnosis of ChAc. Its prognosis is worse, thus, early diagnosis and in-time treatment are important, which can be realized by early blood smear examination for suspicious patients.

Chorea-acanthocytosis:a clinical report of two cases

Objective To investigate the clinical symptoms, the results of auxiliary examinations and treatment ofchorea-acanthocytosis (ChAc). Methods Retrospective analysis of the clinical data of 2 patients with ChAc were performed. Results The main clinical symptoms of ChAc were involuntary choreiform movement, with its typical characteristic of habitual tongue and lip biting; increased amount of acanthocytes in the peripheral blood was noted; epileptic seizure, peripheral nerve injury, cognitive impairment and psychiatric symptoms, elevated muscular enzyme spectrum and shrinked caudate nucleus might appear. Symptomatic and supportive treatments were needed. Conclusion ChAc is a rare progressive hereditary neurodegenerative disease. The clinical features, increased amount of acanthocyte in the peripheral blood, characteristic imaging findings and electrophysiologic changes can be help in the diagnosis of ChAc. Its prognosis is worse, thus, early diagnosis and in-time treatment are important, which can be realized by early blood smear examination for suspicious patients.