No evidence of perfusion abnormalities in the basal ganglia of a patient with generalized chorea-ballism and polycythaemia vera: analysis using subtraction SPECT co-registered to MRI

Polycythaemia vera is a well-known cause of symptomatic chorea, however, the pathophysiology of this correlation remains unclear. We report on a patient with generalized chorea-ballism associated with polycythaemia vera, and we present the findings of 99mTc-hexamethylpropylene amine oxime (HMPAO) SPECT done in both the choreic state and the non-choreic state. The SPECT during both the choreic and the non-choreic states did not reveal any definite perfusion changes in specific regions of the brain, as compared with 6 age-matched controls. In addition, the subtraction SPECT co-registered to MRI (SISCOM) analysis did not show any difference in cerebral blood flow during the choreic and non-choreic states. This result suggests that the basic mechanism of chorea associated with polycythaemia vera does not appear to be associated with a reduction in cerebral perfusion to a specific cerebral area, such as the basal ganglia or its thalamocortical connections.     

Chorea and polycythaemia

Summary Two patients with chorea and polycythaemia vera are described. The literature on this rare association is reviewed and its pathophysiology discussed.     

A hitherto undescribed defect of platelet coagulant activity in polycythaemia vera and essential thrombocythaemia

A recently described platelet coagulant activity (factor X activating activity) was studied in two patients with essential thrombocythaemia and ten with polycythaemia vera. It was markedly reduced in the five patients with bleeding tendency, and also reduced in one patient with a history of peripheral ischaemia. It was either normal or increased in patients with no haemostatic complications. In the two subjects with lowest activity (five and thirteen percent) and most serious bleeding, chemotherapy resulted in normalisation of the platelet count and of platelet coagulant activity and in disappearance of the bleeding episodes. Our results suggest an association between bleeding tendency and reduced platelet coagulant activity. These findings may be of relevance to 1) the pathogenesis of abnormal bleeding in patients with myeloproliferative disorders and 2) the understanding of the role of platelet coagulant activities other than platelet factor 3 in disturbed haemostasis.     

非酮症性高血糖合并偏侧舞蹈症一例

患者女性,63岁。主因左侧肢体不自主运动1周,于2010年12月16日入院。患者入院前1周无诱因突发左侧肢体持续性不自主舞蹈样动作,不受意识控制,以上肢显著,入睡后症状消失。发病过程中伴双侧下肢麻木、膝关节肿痛,但无发热、头痛、呕吐,无肢体无力、构音障碍及大小便失禁,精神、饮食及睡眠正常。既往2型糖尿病病史25年,     

非酮症性高血糖合并偏侧舞蹈症

目的对伴有偏侧舞蹈症以及MRI表现为纹状体T1高信号的非酮症性高血糖患者的临床表现、影像学特征及发病机制进行分析。方法对2000年10月～2002年3月诊治的4例伴有偏侧舞蹈症的非酮症性高血糖患者的临床资料进行分析并复习近10年文献。结果4例患者均为老年人,急性发病。发病时血糖水平为16.2～28mmol/L,血浆酮体检测多呈阴性;舞蹈样症状可累及患者的单侧和(或)双侧肢体或面部。头部影像学检查:CT显示为病变对侧的尾状核头及壳核于早期呈高密度,短时间内可消失;MRI于T1加权像呈高信号,T2加权像呈稍低信号,经历数月信号可无明显变化。采用降低血糖,并联合应用氟哌啶醇、氯丙嗪等药物治疗对控制舞蹈样症状有效。结论非酮症性高血糖、偏侧舞蹈症以及MRI表现为纹状体T1高信号,可能构成偏侧舞蹈症临床综合征;影像学改变可能表示由代谢紊乱引起的斑片状脑出血,后者导致基底神经节运动环路受损,从而产生舞蹈样症状。     

Chorea associated with oral contraception

Summary Three patients developed chorea while receiving oral contraceptives. Two were young patients whose chorea developed long after treatment had been started and disappeared soon after it had been discontinued. The third patient had acute amphetamine-induced chorea after prolonged oral contraception. Prolonged administration of female sex hormones is a possible cause of chorea in women who have not previously had chorea or rheumatic fever.     

Essential thrombocythemia: Rare cause of chorea

Essential thrombocythemia (ET) is a clonal myeloproliferative disorder (MPD), characterized predominantly by a markedly elevated platelet count without known cause. It is rare hematological disorder. In ET clinical picture is dominated by a predisposition to vascular occlusive events and hemorrhages. Headache, transient ischemic attack, stroke, visual disturbances and light headedness are some of the neurological manifestations of ET. Here, we describe a 55 year-old female who presented to us with generalized chorea. On evaluation, she was found to have thrombocytosis. After ruling out the secondary causes of thrombocytosis and other MPD we confirmed diagnosis of ET in her by bone marrow studies. Polycythemia vera (PV) another MPD closely related to ET may be present with generalized chorea. There are few case reports of PV presenting as chorea in the literature, but none with ET. We report the first case of ET presenting as generalized chorea.     

Chorea induced by non-ketotic hyperglycaemia: a case report

Abstract We describe an 81-year-old woman presenting with sudden onset of generalised chorea. She was unaware of suffering from diabetes. Laboratory screening revealed non-ketotic hyperglycaemia. Brain magnetic resonance imaging (MRI) failed to show basal ganglia abnormalities. Monotherapy with subcutaneous regular insulin induced a progressive normalisation of glycaemia as well as a parallel improvement of the abnormal involuntary movement scale on a nine-day sequential observation. This correlation strongly supports the hypothesis that non-ketotic hyperglycaemia itself might play a major pathogenetic role in chorea associated with non-ketotic hyperglycaemia. Diabetes mellitus should be suspected in patients who develop sudden onset of chorea even in the absence of putaminal abnormalities on MRI.     

Falling spells associated with antidepressant drug treatment

Summary Six patients experienced falling spells concurrent with the intake of antidepressant drugs in high doses or in moderate doses combined with other psychotropic drugs. The close temporal correlation between drug ingestion and the falling spells and their immediate termination after reduction or discontinuation of medication suggests that these drugs caused the falls. Further factors predisposing to the falling spells remain to be defined.     

TIA磁共振弥散加权成像异常的相关因素分析

目的探讨短暂性脑缺血发作(TIA)磁共振弥散加权成像(DWI)异常的相关因素。方法对2006年1月～2006年12月临床诊断为TIA的住院患者45例进行回顾性分析,比较DWI异常组和正常组的临床特征,并采用Logistic回归分析判定与DWI异常有关的独立因素。结果DWI异常14例(31%);多元回归分析提示TIA症状持续时间≥1h(OR=2.5,95%CI:1.3～8.6)和症状表现为失语伴运动障碍(OR=8.9,95%CI:2.1～36.5)与DWI异常独立相关。结论TIA患者DWI异常与TIA症状持续时间和症状表现为失语伴运动障碍有关。     

Cerebral embolism in a patient with polycythemia rubra vera

Polycythemia rubra vera (PRV) is a rare haematological disorder that has a high risk of stroke, although the pathophysiological origin of the cerebral ischaemia in this disease is not well known. We report a case of a stroke patient with PRV in whom bilateral embolic signals were detected by transcranial Doppler (TCD). Cerebral computed tomography showed a cortical middle cerebral artery infarction, echocardiography was normal, duplex-scan showed moderate left carotid stenosis and digital angiography disclosed right siphon stenosis. TCD examinations in the acute phase repeatedly showed a great number of bilateral microembolic signals (MESs). Four months later magnetic resonance angiography showed no flow signal in the right siphon and a severe stenosis of the proximal right MCA. The detection of bilateral MESs in the absence of cardiac sources of embolism observed in this patient suggests that ischaemic cerebral events in PRV may have an embolic origin favoured by a prothrombotic state.     

MRI appearance of a cerebral cavernous malformation in the caudate nucleus before and after chorea onset

Movement disorders associated with cerebral cavernous malformations (CM) are seldom reported, and chorea, in particular, is rarely associated with a CM located in the caudate nucleus. Here we report a 78-year-old female patient with chorea, who presented with choreiform movements due to a CM in the contralateral caudate nucleus. A brain MRI was obtained and compared with that obtained before the onset of chorea. The new images did not reveal further extralesional hemorrhage from the CM when compared with the previous images. The choreiform movements showed spontaneous improvement and then disappeared completely. We reviewed previous reports of patients with chorea associated with a CM, and conclude that CM located in the caudate nucleus can cause chorea.     

真性红细胞增多症并发脑卒中27例临床分析

目的 探讨真性红细胞增多症(PV)并发脑卒中的临床特点及治疗方法.方法 对27例PV并发脑卒中患者的临床资料进行回顾性分析.结果 (1)本组PV并发脑梗死22例(81.5%),其中多发性脑梗死18例(66.7%);短暂性脑缺血发作2例(7.4%);脑出血2例(7.4%);蛛网膜下腔出血(SAH)1例(3.7%).均符合PV的临床表现和体征及血象、骨髓象的改变.(2)影像学检查显示脑梗死以多发小梗死灶多见(66.7%),常见于脑叶、基底节、内囊;脑出血的出血灶内密度不均匀,周边水肿明显.(3)本组采用静脉放血加小剂量化疗治疗,脑卒中痊愈8例,显著进步18例,无效1例.结论 PV并发脑卒中以脑梗死多见,其中又以多发性梗死为主,并发脑出血和SAH较少,采用静脉放血加小剂量化疗治疗的效果较好.     

狼疮脑病10例临床神经影像特征分析

目的 研究系统性红斑狼疮累及中枢神经系统中具有特征性临床-神经影像综合征患者的临床及神经影像特点,并探讨其可能的发生机制.方法 通过回顾性分析北京协和医院2005-2011年收治的10例系统性红斑狼疮患者的临床及神经影像学资料,复习文献,总结分析临床及神经影像特点.结果 10例患者根据临床神经影像特点分类:2例后循环可逆性脑病,临床表现为头痛、癫痫大发作;2例帕金森综合征患者,临床表现为震颤、肌张力齿轮样增高;2例舞蹈病患者,3例弥漫性白质脑病患者,临床表现为精神症状、认知功能障碍及急性意识模糊状态;1例Fahr综合征,临床表现为精神症状及认知功能障碍.结论 临床表现为运动障碍的狼疮脑病可能与局部基底节区的免疫反应或血管病变相关,而基于神经影像学发现,狼疮脑病也可引起广泛钙化、水肿及脑白质病变.     

非酮症高血糖性舞蹈症

目的对非酮症高血糖性舞蹈症患者的临床表现、影像学特征及发病机制进行分析。方法结合相关文献对5例非酮症高血糖舞蹈症患者的临床资料进行分析。结果 5例均急性起病,可表现为单侧或双侧肢体的舞蹈症状;血糖和血渗透压明显增高;影像学表现为特异性斑片状脑出血和纹状体T1高信号;联合应用降糖药物和多巴胺受体阻滞剂可控制舞蹈症状。结论非酮症性高血糖、舞蹈症以及MRI显示为纹状体T1高信号,可能构成舞蹈症临床综合征;影像学改变可能表示由代谢紊乱引起的斑片状脑出血,后者导致基底神经节运动环路受损,从而产生舞蹈样症状。     

Peripheral neuropathy associated with polycythemia vera

Nerve conduction studies were performed on 26 patients with polycythemia vera, 11 of whom had sensory symptoms in the extremities and 3 of whom had clinical signs of peripheral neuropathy. There was significant impairment of sensory conduction in the ulnar and sural nerves and mild slowing of motor conduction in the lateral popliteal nerve. Sural nerve biopsies were performed on three patients. The pathological findings, including teased fiber studies, were consistent with mild chronic axonal degeneration. There is an association between polycythemia vera and peripheral neuropathy.     

Impaired Platelet Binding of Fibrinogen Due to a Lower Number of GPIIB/IIIA Receptors in Polycythemia Vera

We have previously described a stimulus-specific defect in platelet aggregation in polycythaemia vera (PV) after stimulation with surface receptor dependent agonists such as platelet activating factor (PAF). In contrast, responses to phorbol myristate acetate (PMA) were normal. We now report that after PAF stimulation, using flow cytometry, the amount of fibrinogen bound to its receptor was significantly lower in PV platelets with a median MFI of 6.0 (range 4.1–17.3) compared to controls, 12.8 (range 8–21.3; n=11; p<0.01). We found no evidence of preactivation of PV platelets. Quantitative analysis of GPIIIa gave a significantly lower number of GPIIIa on resting PV platelets, 14300 subunits of GPIIIa (range 8500–15500) vs. 19800 for controls (range 13400–26800; n=12; p<0.01). Both patients and controls increased their number of receptors on the cell surface after stimulation with PAF and PMA, but the significant difference in the number of receptors per cell remained. Indirect evaluation of PAF receptor function showed that activation of CD 62 did not differ in PV and controls after PAF stimulation. Additionally, although the basal level of serotonin in platelet-rich plasma was significantly lower in PV, there was a threefold increase of the basal level after stimulation with PAF for both PV and control platelets, also indicating a normal interaction of PAF with its receptor. Although our results indicate both an impaired PAF induced aggregation in PV and a lower number of GPIIb/IIIa complexes on single platelets, whether these phenomena are related remains uncertain.