摘要
目的回顾1例舞蹈病-棘红细胞增多症患者的诊断与治疗过程,以了解其临床特点。方法与结果32岁男性患者,因双上肢不自主运动加重,伴发作性意识丧失、行走不稳11年就诊。体格检查:双上肢不自主运动,右上肢舞蹈样运动,左手呈静止性震颤,行走时躯干及下肢向右侧扭转,站立时脚趾不自主运动。肌张力偏低,四肢腱反射偏低。右侧指鼻试验略欠稳准,存在意向性震颤;双手轮替试验笨拙。智商评分为78分,焦虑、抑郁量表评分均于正常值范围。实验室检查:外周血涂片Giemsa染色棘红细胞占8%。透射扫描电子显微镜显示红细胞表面棘状突起。谷氨酰氨基转移酶29U/L,天冬氨酸氨基转移酶37U/L,血肌酸磷酸激酶1787U/L,乳酸脱氢酶295U/L,α-羟丁酸脱氢酶231U/L,脂蛋白(A)504mg/L,其余各项指标均于正常范围内。MR检查显示,双侧尾状核头萎缩明显,双侧侧脑室前角明显增宽。脑电图检查颞叶呈异常电活动。肌电图显示,上下肢周围神经源性损害,右侧正中神经感觉传导速度下降20%,波幅下降80%。临床拟诊为舞蹈病-棘红细胞增多症。经氟哌丁醇、维生素B和维生素E治疗,症状明显改善。结论对于存在多种锥体外系症状的患者,应注意考虑舞蹈病-棘红细胞增多症。该病为一组神经系统综合征,共同的特点是锥体外系症状和棘红细胞增多,可通过血涂片、红?
Objective To review the experience of diagnosis and treatment for a case with chorea-acanthocytosis and to reveal its clinical characteristics. Methods and Results A 32-year-old male patient was admitted because of exacerbation of involuntary movement of bilateral upper limbs and unstable gait for 11 years, with sudden unconscious attack. Physical examination: involuntary movement of bilateral upper limbs, chorea in right upper limb, rest tremor in left hand, trunk and lower limbs turning to the right side when walking, involuntary movement in toes when standing, reduced muscle tone and tendon reflexes, noc accurate during finger-to-nose test, intentional tremor, dysdiadochokinesia of both hands. The number of IQ was 78, HAMD anxiety and depression evaluation was normal. Laboratory findings: acanthocytes accounted for 8% in blood smear with Giemsa staining. Electronic scanning microscope showed thorn-like projection on the surface of erythrocytes. GGT was 29 U/L, ALT was 37 U/L, CPE was 1 787 U/L, LDH was 295 U/L, α-HBD was 231 U/L, Lpa was 504 mg/L, the other parameters were of normal rarge. MR scanning revealed remarkable atrophy of heads of bilateral caudal nucleus and widening of bilateral anterior horns of ventricles. EEG showed abnormal electrical activity on temporal lobe. EMG showed impaired peripheral nerves injury of upper and lower limbs, the conduction speed of the right median nerve reduced 20% and amplitude reduced 80%. The clinical diagnosis was chorea-acanthocytosis. The patient got obviously improved after treatment with haloperidol, vitamine B and E. Conclusion If a patient manifests maltiple extrapyramidal system symptoms, neuroacanthocytosis, which is a syndrome of nervous system, should be excluded, the common characteristics of the disease are extrapyramidal system symptoms and acanthocytosis. The diagnosis depends on blood smear, transmission electron microscope detection of erythrocytes, serum lipid and muscular enzyme spectrum examination, radiological, electrophysiological and psycholog
出处
《中国现代神经疾病杂志》
CAS
2005年第3期175-178,共4页
Chinese Journal of Contemporary Neurology and Neurosurgery
