11例神经棘红细胞增多症临床分析

目的 总结神经棘红细胞增多症的临床及影像学特点.方法 回顾性分析11例神经棘红细胞增多症患者的临床和神经影像学资料.结果 11例患者中,男性6例,平均发病年龄36.3岁;女性5例;平均发病年龄42.6岁.以不自主运动起病7例,其中3例表现为口面部肌张力障碍,2例以全面强直阵挛发作起病;认知功能障碍5例;10例腱反射减低,肌张力低;肌酸激酶增高6例;3例患者行肌电图加传导速度检查,1例双上肢神经源性损害,2例四肢神经源性损害;3例患者外周血涂片光镜下棘红细胞增多,8例扫描电镜观察棘红细胞增多;7例头颅MRI呈不同程度侧脑室增大,双侧尾状核、豆状核萎缩.结论 神经棘红细胞增多症是一种主要累及基底节的神经系统疾病,主要表现为口周肌张力障碍、舞蹈症认知功能障碍、肌酸激酶增高,影像学不同程度的豆状核、尾状核萎缩,外周血涂片或电镜扫描棘红细胞增多,尤其是电镜扫描更为敏感.

Clinical analysis of 11 cases with neuroacanthocytosis

Objective To analyze the characteristics of the clinical,laboratory and neuroimaging of the patients with neuroacantocytosis..Methods Data of 11 patients with neuroacanthocytosis were retrospectively analyzed.Results Six male and 5 female patients were included.The mean age at onset of male patients was 36.3 years old,while the mean age at onset of female patients was 42.6 years old.Seven patients firstly presented with involuntary movements.Three of them presented with oral-facial-lingual dystonia.Two patients firstly presented with generalized tonic-clonic seizures.Five patients experienced impaired cognition.Ten cases presented with hypotonia and hyporeflexia.Six patients showed elevated serum creatine kinase.The examination of three patients showed the electromyography and nerve conduction velocity,all were axonal damages.The peripheral blood smear revealed the presence of acanthocytesin,the presence of acanthocytes in 3 patients and scanning electron microscope revealed the presence of acanthocytes in 8 patients.Brain MRI showed variable atrophy of the bilateral caudate nuclei and putamen in 7 patients.Conclusion Neuroacanthocytosis is kind of disease that mainly affects the basal ganglia.With the characteristics of facial dystonia,limbschorea,cognitive impairment,and seizures.Brain MRI have shown variable atrophy of the bilateral caudate nuclei and putamen.The peripheral blood smear and electron microscope scanning of peripheral blood examination are critical in the diagnosis of neuroacanthoeytosis,especially the latter one.