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神经棘红细胞增多症的临床及神经影像学特征

Clinical, laboratory, and neuroimaging characteristics of neuroacanthocytosis

摘要:

目的 分析神经棘红细胞增多症的临床及头颅影像学特征.方法 回顾分析8例患者的临床资料并复习文献,周围血棘红细胞检测采用外周血涂片、红细胞盐水诱发实验和扫描电镜方法.结果 男性2例,女性6例;发病年龄10~35岁,平均发病年龄22岁,4例以口面舌部肌张力障碍为首发突出症状,3例以四肢远端不自主运动为首发突出表现,且于发病过程中累及口面部肌张力;1例以帕金森症状为主要临床表现.4例有癫痫发作,为全身强直阵挛发作.4例智力减退.6例肌张力低、腱反射低.8例患者外周血涂片光镜下7例棘红细胞增多,另1例外周血涂片正常,但红细胞盐水诱发实验和电镜下棘红细胞增多.所有患者肌酸激酶不同程度轻度升高.8例患者头颅MRI中,6例示不同程度侧脑室扩大,前角明显增宽;尾状核和豆状核萎缩.4例肌电图和神经传导速度检查,2例正常,2例示上、下肢神经源性损害,感觉纤维轴突受累为著.外周血棘红细胞检测:7例患者外周血涂片光镜下棘红细胞增多;8例红细胞盐水诱发实验阳性,2例电镜检查符合棘红细胞增多症.结论 神经棘红细胞增多症是一种主要累及基底节的进行性神经系统变性病,主要表现为口面肌张力障碍、舞蹈症、智力减退、癫痫发作,头颅影像学示不同程度的尾状核和豆状核萎缩,周围血的棘红细胞检测方式对该病有确诊意义.

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abstracts:

Objective To investigate the clinical,laboratory,and neuroimaging characteristics of neuroacanthocytosis.Methods Eight patients with neuroacanthocytosis were retrospectively analysed.Acanthocytes were tested by peripheral blood smear,wet preparation with saline dilution,and scanning electron microscope.Results Two male and 6 female patients were included.The age at onset was between 10 and 35 years,with a mean age at onset of 22 years.Four patients firstly presented with oral-facial-lingual dystonia,3 patients firstly presented with involuntary movements of the distal limbs and experienced the oral facial dystonia during the course of disease,and 1 patient primary presented with a parkinsonian syndrome.Four patients had generalized tonic-clonic seizures were reported in 4 patients,and 4 patients had cognitive impairment.Hypotonia and hyporeflexia were reported in 6 patients.The peripheral blood smear revealed the presence of acanthocytes in 7 patients,in addition,wet preparation with saline dilution and scanning electron microscope revealed the presence of acanthocytes in the remaining one.All patients showed slightly elevated serum creatine kinase.Brain magnetic resonance imaging (MRI) showed variable atrophy of the bilateral caudate nuclei and putamen,with or without a rim of increased T2-intensity in 6 patients,but the films of 2 patients were read as normal.Electromyography and nerve conduction velocity were examined in 4 patients.The results indicated axonal damage in 2 patients,and were normal in the other 2 patients.Acanthocytosis was confirmed by peripheral blood smear in 7 cases,by wet preparation with saline dilution in 8 cases and by scanning electron microscope in 2 cases.Conclusions Neuroacanthocytosis is a progress neurodegenerative disorder mainly affected the basal ganglia. The clinical characteristics include oral facial dystonia,limbs chorea,cognitive impairment,and seizures. Brain MRI showed variable atrophy of the bilateral caudate nuclei and putamen.The peripheral blood smear,wet preparation with saline dilution,and scanning electron microscope methods of peripheral blood examination are critical in the diagnosis of neuroacanthocytosis.

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