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Hemidystonia and Hemichoreoathetosis as an Initial Manifestation of Moyamoya Disease
Abstract
To describe hemidystonia and hemichoreoathetosis in an adult patient with moyamoya disease without a previous history of cerebrovascular accident.
Case report.
Tertiary care center.
A 22-year-old woman suddenly developed dystonic spasms in her left hand and left foot after a severe emotional stress. The dyskinesia gradually subsided over the next 4 months. Five months after the onset, she suddenly developed choreoathetoid movement in her right hand and right foot.
The patient had both somatic and cortical sensory deficits in the right hand and right foot. Magnetic resonance imaging of the brain showed an infarction at the right putamen and lesions involving the right frontal lobe and the left frontotemporoparietal lobe. Magnetic resonance cerebral angiography showed severe stenoses of both internal carotid arteries at the supraclinoid portion and numerous collateral vessels, compatible with moyamoya disease. Single photon emission tomography of the brain showed hypoperfused areas at the right frontal and left frontotemporoparietal lobes. The choreoathetosis of the right limbs improved markedly, along with improvement of sensory deficits.
To our knowledge, this is the first report of an adult patient presenting with hemidystonia and hemichoreoathetosis as the initial manifestations of moyamoya disease. Arch Neurol. 2000;57:1510-1512
... The differentiation and interpretation of this spectrum is a challenge [7], since epidemiological data are missing. Involuntary movements in MMA include focal motor seizures, tremor, limb-shaking TIAs, choreatic movements, dyskinesia, dystonia and spasticity, stiffening and painful cramps [7][8][9][10][11][12][13][14][15][16]. The exact characterization of symptoms is essential as they reflect different pathophysiological mechanisms and require different treatment strategies. ...
... Some involuntary movements such as periodic muscle jitter in focal motor seizures, epilepsia partialis continua or tremor as well as unintended stiffening, cramps and spasticity are mainly caused by cerebral gliosis after stroke. However, irregular jerks as in limb-shaking TIAs and unintended movements with loopy or pranced character in hemichorea or dyskinesia are possible red-flags for critical hemodynamic compromised hemispheres [8,10,14,16]. The most common factors known to trigger movement disorders resulting from hemodynamic insufficiency are hyperventilation by crying, singing or excitement [11,17,18], and pregnancy (chorea gravidarum or estrogen-induced chorea)[19][20][21] . ...
... The most common factors known to trigger movement disorders resulting from hemodynamic insufficiency are hyperventilation by crying, singing or excitement [11,17,18], and pregnancy (chorea gravidarum or estrogen-induced chorea)[19][20][21] . Treatment recommendations include antipsychotic medications [22], but more often movement symptoms are reported to recover after a direct or indirect bypass operation [8,10,23]. This study aimed to systematically evaluate the frequency and characteristics of movement disorders in MMA. ...
... Magnetic resonance imaging (MRI) revealed a small asymptomatic ischemic lesion in the right frontal white matter. 18 F-FDG PET revealed markedly elevated glucose metabolism in the right striatum (Fig. 2). Coronal section of MR angiography demonstrated a dilated and extended lenticulostriate artery passing through the right striatum and connecting to the medullary artery in the periventricular area (Fig. 2). ...
... Elimination of the chorea was confirmed when she visited our clinic 2 months after onset. 18 F-FDG PET performed at that time revealed normalized glucose metabolism in the right striatum (Fig. 2). ...
... The chorea gradually improved after administration of haloperidol. 18 F-FDG PET performed after recovery revealed normalized glucose metabolism in the right striatum (Fig. 4). ...
Background
The pathophysiological mechanism of chorea as a presentation of pediatric moyamoya disease remains unknown, although ischemia is suspected as a likely cause. The authors describe two cases of pediatric moyamoya disease, both of which presented with hemichorea in the stable phase after successful bypass surgery.
Clinical Presentation
Cerebral blood flow was almost normal in one case and decreased in the basal ganglia and watershed area in the other case due to infarcts occurring before surgery. In both cases, 18F-fluorodeoxyglucose positron emission tomography revealed elevated glucose metabolism in the corresponding side of the striatum, which reverted to normal after recovery from chorea. Magnetic resonance angiography revealed a dilated and extended lenticulostriate artery at the exact site of the hypermetabolic lesion.
... Hemichorea related to transient ischemic attack (TIA) or stroke has been reported that the majority of patients had an ischemic lesion in the basal ganglia, thalamic nuclei, subthalamic area, 1 although some had no specific cerebral structural lesions but demonstrated either highgrade stenosis of the internal carotid artery (ICA) or Moyamoya disease (MMD). 2,3 A prognosis of isolated middle cerebral artery (MCA) stenosis in young patients with no other medical conditions has not been documented well and may be a unique pathologic entity with a benign long-term course. 4 There have been only a few young cases showing isolated MCA stenosis with no other medical condition. ...
... Previous MMD cases with chorea have been reported to have steno-occlusive lesions in the ICAs, which met the diagnostic criteria of MMD at the time of evaluation. 2 In this case, SPECT showed decreased uptake in the left basal ganglia and the cerebral cortex, which was consistent findings with many reports of hemichorea associated with hypoperfusion of the basal ganglia or cerebral cortex. 2 Such hemodynamic compromise might cause a functional imbalance in the striatum and cerebral cortex, which would result in decreased activity of the indirect pathway through disinhibition of the thalamic neurons in this case. ...
Isolated middle cerebral artery (MCA) stenosis in young patients with no other medical condition may be a unique pathologic entity with a benign long-term course. Generally, moyamoya disease shows a progression of stenosis from internal cerebral artery (ICA) to other intracranial vessel. A 26-year-old woman was admitted for choreic movements of the right arm and leg. Brain magnetic resonance imaging showed no stroke. Conventional angiography revealed 48% stenosis of the left M1 without ICA stenosis. Single photon emission computed tomography revealed perfusion asymmetry after acetazolamide injection, suggesting decreased uptake in the left basal ganglia and the cerebral cortex. Her hemichorea was mildly decreased with risperidone. One year later, follow-up angiography showed complete occlusion of the left M1 with neovascularization suggestive of moyamoya disease. The patient underwent bypass surgery and her hemichorea disappeared. This may be an atypical presentation of moyamoya disease. The bypass surgery was an effective measure for restoring the vascular insufficiency and, resultantly, controlling her hemichorea.
... caused by ischemia of the striatopallidum, or compression by the abnormal vascular network.4,6,[8][9][10]14) CBF studies have been performed in 11 moyamoya disease patients with chorea including the present case(Table 1).2,[4][5][6][8][9][10]17,18) ...
... caused by ischemia of the striatopallidum, or compression by the abnormal vascular network.4,6,[8][9][10]14) CBF studies have been performed in 11 moyamoya disease patients with chorea including the present case(Table 1).2,[4][5][6][8][9][10]17,18) Even if MR imaging showed no damage of the basal ganglia, basal blood flow reduction or decreased vascular reserve in basal ganglia was noted in almost all cases. ...
A 31-year-old woman with moyamoya disease presented with choreiform movements persisting for 4.5 years. Magnetic resonance imaging showed a fine vascular plexus in the base of the brain but no parenchymal brain damage. Cerebral angiography revealed intracranial vascular abnormalities compatible with moyamoya disease. Single photon emission computed tomography with N-isopropyl-p-(123)I-iodoamphetamine showed definite reduction of the regional cerebral blood flow (rCBF) in the bilateral striata and frontotemporoparietal cortex. rCBF study with acetazolamide administration indicated marked decrease of rCBF reserve in those regions. She underwent indirect bypass surgery (encephalo-duro-arterio-myo-synangiosis) under a diagnosis of moyamoya disease. The choreic involuntary movements disappeared shortly after surgery. Postoperative angiography showed neovascularization in the extracranial to intracranial direction, associated with dramatic increase in rCBF in the involved regions.
... This becomes particularly important in individuals with pre-existing vessel lumen compromise. Besides, it can cause alteration of immune system by increasing IL-8, pro-inflammatory TNF-α and unaltered induction of antiinflammatory cytokine IL-10, which is already known to be implicated in worsening of MMA [34,[38][39][40][41][42]. Also, several studies have shown that sympathetic activity can decrease CBF or attenuate CBF increases, but under normal physiological condition neurogenic control has lesser influence over cerebral autoregulation in comparison to vasomotor, metabolic and chemical mechanism. ...
INTRODUCTION: Moyamoya Angiopathy (MMA) has been known to manifest with myriad of neurological manifestations, often in association with various precipitating factors. This is the first study to systematically analyzing the precipitating triggers to neurological symptoms done on the largest cohort of MMA in India.
METHODS: A single-centered, cross-sectional observational study, recruiting 160 patients with consecutive angiographically proven MMA over a period of 5 years (2016-2021), was undertaken to evaluate the profile of immediate precipitating factors in temporal association to the neurological symptoms, along with their clinical and radiological characteristics. SPSS 25 was used for statistical analysis.
RESULTS: Among the 160 patients (Adult-85, children-75), precipitating factors were seen in 41.3%, significantly higher in children (52%) than adults (31.8%)(p-value: 0.011). The commonest triggers included fever (18.8%), emotional stress (8.1%), heavy exercise and diarrhea (6.3% each). Cold bath triggered MMA symptoms in 1.3%. Fever (p-value: 0.008) and persistent crying (p-value: 0.010) triggered neurological symptoms more commonly in children than in adults. Amongst MMA patients with precipitating factors, the commonest MMA presentation included cerebral infarction type (37.9%) and TIA (31.8%). The majority of precipitating factors preceded an ischemic event were BP-lowing ones (54.7%).
CONCLUSION: Neurological symptoms of MMA are commonly associated with several precipitating factors, including the lesser known triggers like cold bath. The frequency and profile precipitating factors varies with the age of presentation and type of MMA. It can serve as an early clue to the diagnosis of MMA and its careful avoidance can be largely beneficial in limiting the distressing transient neurological symptoms.
... Dystonia in post-stroke MD is usually reported with stroke lesions in the striato-pallido-thalamo-cortical loop, including the lenticular nucleus, putamen, and thalamus (18). Dystonia is also frequently reported as a movement symptom of MMD without an overt stroke lesion, especially as a form of transient dystonia during hyperventilation (27)(28)(29). In our study, MMD was also the cause of dystonia in about half of the cases (3 out of 7). ...
Background
Studies of secondary movement disorder (MD) caused by cerebrovascular diseases have primarily focused on post-stroke MD. However, MD can also result from cerebral artery stenosis (CAS) without clinical manifestations of stroke. In this study, we aimed to investigate the clinical characteristics of MD associated with CAS.
Materials and Methods
A nationwide multicenter retrospective analysis was performed based on the data from patients with CAS-associated MDs from 16 MD specialized clinics in South Korea, available between January 1999 and September 2019. CAS was defined as the >50% luminal stenosis of the major cerebral arteries. The association between MD and CAS was determined by MD specialists using pre-defined clinical criteria. The collected clinical information included baseline demographics, features of MD, characteristics of CAS, treatment, and MD outcomes. Statistical analyses were performed to identify factors associated with the MD outcomes.
Results
The data from a total of 81 patients with CAS-associated MD were analyzed. The mean age of MD onset was 60.5 ± 19.7 years. Chorea was the most common MD (57%), followed by tremor/limb-shaking, myoclonus, and dystonia. Atherosclerosis was the most common etiology of CAS (78%), with the remaining cases attributed to moyamoya disease (MMD). Relative to patients with atherosclerosis, those with MMD developed MD at a younger age ( p < 0.001) and had a more chronic mode of onset ( p = 0.001) and less acute ischemic lesion ( p = 0.021). Eight patients who underwent surgical treatment for CAS showed positive outcomes. Patients with acute MD onset had a better outcome than those with subacute-to-chronic MD onset ( p = 0.008).
Conclusions
This study highlights the spectrum of CAS-associated with MD across the country. A progressive, age-dependent functional neuronal modulation in the basal ganglia due to CAS may underlie this condition.
... Involuntary movement due to chorea is rare as an initial manifestation or during the clinical course in patients with MMD, with an estimated frequency of 3-6% (3), and may complicate the diagnostic considerations. Patients with MMD-induced chorea are reported either in single cases or in a small series (4)(5)(6)(7), and its pathophysiological mechanism is poorly understood. ...
Moyamoya disease (MMD) is a rare cause of chorea, and its pathophysiological mechanism remains unclear. We explore the use of cerebral positron emission tomography (PET) to study brain functional connectivity in 2 patients with MMD-induced hemichorea. Abnormal metabolism of brain was analyzed by 18F-fluorodeoxyglucose (18F-FDG) PET images. Dopamine transporters (DAT) PET evaluated the integrity of the cerebral dopamine system. A comprehensive systemic literature search of the PubMed database was also conducted. The 18F-FDG imaging of our patients showed no responsible hypometabolism in affected brain areas, while hypermetabolism in the affected caudate nucleus, putamen and fronto-parietal areas could be seen. DAT PET imaging was normal in patient 1 (a 23-year-old woman), while remarkably reduced DAT binding was seen in the left striatum of patient 2 (a 48-year-old woman). The literature review of 9 publications revealed that 11 patients who underwent single photon emission computed tomography (SPECT) showed cerebral hypoperfusion in the cortex and subcortical area; 18F-FDG PET was performed in 3 cases, which revealed hypermetabolism in the affected striatum in 2 cases. These findings suggest that the striatal and cortical hypermetabolism in the first patient result from underactivity in indirect pathway from basal ganglia-thalamocortical circuits, causing increased activity of excitatory glutamatergic thalamostriatal and thalamocortical projection neurons. The collateral vessels in the basal ganglia might lead to disruption of normal basal ganglia signaling. A dominant left hemisphere with corpus callosal connections to the right basal ganglia resulting into left hemichorea is the most probable explanation for the second patient. We have identified abnormal functional connectivity in basal ganglia-thalamocortical circuits in patients with MMD-induced chorea highlighting the corticostriatal pathway plays an important role in the pathogenesis of MMD-induced chorea.
... Moreover, cortical involvement was described by Hwang et al. in their study, in which 10 patients with cortical chorea/ballism (cases without MRI evidence of basal ganglia lesions) were evaluated by SPECT (Hwang et al., 2013). Decreased perfusion or perfusion defects in the parietal cortex were the most common SPECT finding in these patients, as was reported previously in the literature in other clinical conditions (Mizushima et al., 1997;Lee et al., 2000;Lyoo et al., 2000;Al-Yacoub et al., 2004). Moreover, frontal cortex involvement has also been reported, strengthening the hypothesis of a network disruption generated by both frontal and parietal cortex dysfunction as the etiology of chorea-ballism in cases without basal apparent ganglia involvement, a theory that could be applied to HCB cases without basal ganglia lesions or with evidence of cortical involvement, as seen in two cases in this review (Hwang et al., 2013). ...
Hyperglycemia-associated chorea-ballism (HCB) is an infrequent neurological syndrome whose patho-physiology remains poorly understood. Positron emission tomography (PET) studies have offered valuable information regarding regional glucose metabolism. The studies included were published between 1980-2017 and reported demographic, clinical, laboratory and imaging data from patients with HCB in whom a PET scan had been performed. Eleven patients were evaluated (women 82%, Asian origin 91%, mean age 71 years). The main findings were an increase in glucose metabolism at the contralateral motor cortex related to recent episodes of hemibal-lism-hemichorea in 2 patients, and an altered metabolism in the affected basal ganglia in all of them: decreased in 10 patients (91%) and increased in 1 (9%). However during the acute period the patients showed only an increased metabolism, or even no changes. Contrary to what has previously been suggested in a metabolic failure hypothesis, changes in glucose metabolism in the basal ganglia may not be a key factor in the pathogenesis of HCB, and may potentially be a direct result of histological changes such as cellular ischemia and gliosis related to HCB development.
... Involuntary movements such as chorea and dystonia are rare forms of clinical presentation. Lyoo et al. [5] suggested that movement disorders appear as a manifestation of MMD with an estimated frequency of 3-6%. ...
Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by idiopathic occlusion of bilateral internal carotid arteries and the development of characteristic leptomeningeal collateral vessels along anterior or posterior circulation. We present an unusual case of MMD presenting with generalized dystonia as the predominant manifestation.
... Several cases of involuntary movement in a patient with moyamoya disease have recently been reported. Table 1 summarizes clinical characteristics of 13 patients with moyamoya disease with involuntary movement including the present case [6][7][8][9][10][11][12][13][14][15][16]. There were 2 men (15.4%) and 11 women (84.6%) identified with a mean age of 21.3 years ranging from 7 to 54. ...
... In children, a rare cause is moyamoya disease, which may be missed on routine MRI. 103,104 The chorea may be violent and distressing, although in most cases, it subsides spontaneously over the course of a few weeks. ...
Movement disorders may present acutely, and failure to recognize and exclude important differential diagnoses can result in significant morbidity or mortality. Unfortunately, much of the literature pertaining to this topic is scattered and not easily accessible. This review aims to address this deficit. Movement disorder emergencies are discussed according to their most likely mode of presentation. Diagnostic considerations and early management principles are reviewed, along with appropriate pathophysiology where relevant. © 2004 Movement Disorder Society
... In the English language literature, the author found 21 case reports describing cases of Moyamoya disease with initial presentation of chorea [3,8,111213141516171819202122252627 . The summary of these case reports, comparing age, sex and race are presented inTable 1. ...
This article presents the case of a twelve-year-old girl with generalized chorea and chronic migraine headaches. Her examination showed generalized chorea with hypotonia. Brain magnetic resonance images showed multiple old ischemic strokes in the frontal and occipital regions, with flow void appearance in the basal ganglia region. Brain magnetic resonance angiography showed collateral channels at the base of the brain with narrowing of the arteries of circle of Willis which is the classic picture of Moyamoya disease. في هذه الورقة نعرض حالة طفلة تبلغ من العمر اثنا عشر عامًا تعاني من حركات رقصية، وصداع الشقيقة المزمن، ولقد أجريت لها أشعة الرنين المغنطيسي للدماغ والشرايين، فاتضح وجود جلطات متعددة في الدماغ. وضيق في الشرايين، ممَّا أثبت تشخيص مرض المويامويا.
... In the English language literature, the author found 21 case reports describing cases of Moyamoya disease with initial presentation of chorea [3,8,[11][12][13][14][15][16][17][18][19][20][21][22][25][26][27] . The summary of these case reports, comparing age, sex and race are presented in Table 1. ...
Case report:
We describe a 15-year-old girl with moyamoya disease whose initial manifestation was chorea-like involuntary movements. T2-weighted magnetic resonance imaging showed high signal intensity lesions in the left frontal lobe, right parieto-occipital lobes, and frontal subcortical white matter. Single-photon emission computed tomography (SPECT) showed diffuse hypoperfusion of the whole brain. Bilateral direct and indirect cerebrovascular bypass surgeries were performed. Chorea disappeared 2 days after the surgery. Follow-up SPECT demonstrated increased cerebral perfusion in the bilateral frontal, temporal, and parietal regions.
Conclusions:
Chorea accompanied with moyamoya disease can be properly managed by revascularization surgery. Moyamoya disease should be remembered as being one of the differential diagnoses of chorea, which is treatable by surgery.
An 86-year-old woman was admitted to our hospital with impaired consciousness and right hemiplegia. We diagnosed her with left MCA occlusion and administered intravenous alteplase (rt-PA). Her condition improved immediately thereafter, and left MCA recanalization was observed by magnetic resonance angiography. However, she developed hemichorea on the fifth day of hospitalization. Cranial magnetic resonance imaging showed no lesions in the left corpus striatum, and ¹²³I-N-isopropyl-p-iodoamphetamine single-photon emission computed tomography revealed decreased blood flow in the left MCA and the left putamen. We treated her with haloperidol and the hemichorea immediately improved. Seven cases to date have been reported of hemichorea and hemiballismus caused by MCA recanalization. We suspected that the hemichorea associated with hypermetabolism within the contralateral basal ganglia after recanalization might affect the cortico-basal ganglia loop. We must recognize that t-PA recanalization may cause hemichorea.
Moyamoya disease is an idiopathic cerebrovascular disease characterized by progressive steno-occlusion of the arteries of the circle of Willis, accompanied by collateral vessel formation in the basal ganglia [1, 2]. Involuntary movements are relatively rare symptoms of this condition, and their frequency is estimated to range from 3 to 6% [3-5]. However, the incidence could be higher, if limb shaking, a specific type of transient ischemic attack (TIA), is also included. In this chapter, we focus on moyamoya disease-induced involuntary movements, and the patient characteristics, symptoms, underlying mechanisms, and treatment of this condition are discussed.
Hemichorea-hemiballism (HCHB) was infrequently related to cortical lesions such as tumor or infarction. Although functional derangement of the basal ganglia (BG) or the thalamus (Th) was suggested, pathomechanism of HCHB secondary to cortical lesions remains uncertain. We recruited the patients with HCHB secondary to cerebrovascular diseases, excluding other causes such as hyperglycemia. All the patients were studied with brain magnetic resonance imaging/angiography (MRI/MRA) and single-photon emission computed tomography (SPECT). Those with only cortical abnormalities in neuroimaging studies were sorted out as the cases of cortical HCHB. Statistical parametric mapping (SPM) analysis of SPECT was performed to investigate the pathomechanism of cortical HCHB. Ten patients (three males and seven females) were included in our study. Six patients had acute BG lesions with SPECT abnormalities, and one had old BG lesions with abnormal SPECT. Three patients were classified as cortical HCHB with lesions only in the frontal and parietal cortices in MRI and SPECT. SPM analysis revealed additional hypoperfusion in frontal areas, leaving BG and Th free of any perfusion abnormalities. Although cortical HCHB was strictly defined by MRI and SPECT, cortical HCHB was not uncommon (30 %). Further analysis showed intertwined networks among the frontal and parietal lobes for cortical HCHB. Cortical dysfunction is important in the pathogenesis of cortical HCHB even without significant involvement of BG and Th.
Object:
Chorea is a movement disorder characterized by brief, irregular, involuntary contractions that appear to flow from 1 muscle to another. There are a limited number of reports in the literature that have linked moyamoya disease and chorea. The authors describe their experience in treating moyamoya disease in patients in whom chorea developed as part of the clinical presentation.
Methods:
The authors conducted a retrospective review of a consecutive series of 316 children who underwent pial synangiosis revascularization for moyamoya disease at the Boston Children's Hospital.
Results:
Of 316 surgically treated patients with moyamoya disease, 10 (3.2%; 6 boys and 4 girls) had chorea as a part of their presentation. The average age at surgical treatment was 9.9 years (range 3.8-17.9 years). All patients had evidence of hypertrophied lenticulostriate collateral vessels through the basal ganglia on preoperative angiography and/or MRI on affected sides. Two patients had cystic lesions in the basal ganglia. Nine patients underwent bilateral craniotomies for pial synangiosis, and 1 patient underwent a single craniotomy for unilateral disease. Follow-up was available in 9 patients (average 50.1 months). The mean duration of chorea was 1.36 years (range 2 days to 4 years), with resolution of symptoms in all patients. One patient developed chorea 3 years after surgical treatment, 4 patients had transient chorea that resolved prior to surgery, and 5 patients experienced resolution of the chorea after surgery (average 13 months).
Conclusions:
The authors describe children with moyamoya disease and chorea as part of their clinical presentation. The data suggest that involvement of the basal ganglia by the hypertrophied collateral vessels contributes to the development of chorea, which can wax or wane depending on disease stage or involution of the vessels after revascularization surgery. In most patients, however, the chorea improves or disappears about 1 year after presentation.
We describe 2 patients with Parkinson's disease who developed hepatotoxicity associated with the use of entacapone, a novel, mainly peripheral acting inhibitor of catechol-D-methyltransferase. Hepatotoxicity resolved rapidly with discontinuation of the drug. Analysis of causality in a further case initially linked to entacapone exposure was confounded by conflicting serial adverse reaction reports. © 2002 Movement Disorder Society
Hemiballism is a relatively rare hyperkinetic movement disorder characterized by involuntary, violent, coarse and wide-amplitude movements involving ipsilateral arm and leg. Although classically related to lesions in the subthalamic nucleus, in clinical-radiological series of hemiballism most patients had lesions outside this nucleus, involving mainly other basal ganglia structures. It has been suggested that abnormal neuronal firing patterns in the internal segment of the globus pallidus may be related to the pathogenesis of hemiballism. Stroke is the most common cause, but in recent years an increasing number of patients with hemiballism associated with nonketotic hyperglycemia or with complications of human immunodeficiency virus (HIV) infection have been reported. Contrarily to what was stated in older literature, hemiballism has, in general, a relatively good prognosis. Depending on the underlying causes, many patients may experience spontaneous improvements or remissions. Treatment should be directed to the cause of hemiballism. Symptomatic treatment includes the use of drugs, particularly blockers of striatal D2 dopamine receptors and tetrabenazine. Surgical treatment, especially pallidotomy, is a therapeutic option for the minority of patients with severe persistent disabling hemiballism.
Moyamoya disease is a rare cerebrovascular disease characterized by idiopathic bilateral stenosis or occlusion of bilateral internal carotid arteries and the development of characteristic leptomeningeal collateral vessels at the base of the brain. Typical presentations include transient ischemic attacks or stroke, and hemorrhage. Presentation with movement disorders is extremely rare, especially in the pediatric population. The authors describe the cases of 4 children with moyamoya disease who presented with movement disorders.
Among 446 patients (118 pediatric) with moyamoya disease surgically treated by the senior author, 4 pediatric patients had presented with movement disorders. The clinical records, imaging studies, surgical details, and postoperative clinical and imaging data were retrospectively reviewed.
The initial presenting symptom was movement disorder in all 4 patients: chorea in 2, hemiballismus in 1, and involuntary limb shaking in 1. All the patients had watershed infarcts involving the frontal subcortical region on MR imaging. Additionally, 1 patient had a ganglionic infarct. Single-photon emission computed tomography studies showed frontoparietal cortical and subcortical hypoperfusion in all patients. Three patients had bilateral disease, whereas 1 had unilateral disease. All the patients underwent superficial temporal artery–middle cerebral artery bypass. Postoperatively, all 4 patients had complete improvement in their symptoms. The SPECT scans revealed normal perfusion in 3 patients and a small residual perfusion deficit in 1.
Movement disorders are a rare presenting feature of moyamoya disease. Hypoperfusion of the frontal cortical and subcortical region was seen in all patients, and the symptomatology was attributed to ischemic dysfunction and imbalance in the cortical-subcortical-ganglionic-thalamic-cortical circuitry. Combined revascularization with superficial temporal artery–middle cerebral artery bypass and encephaloduroarteriosynangiosis leads to excellent results.
The aim of this study was to define the clinical characteristics of patients who developed movement disorders in association with moyamoya disease (MMD). Using PubMed and medical records of our hospital from 1985 to 2008, we searched for patients who developed movement disorders in association with MMD. This study included 38 patients described in previous studies and 4 patients found in the medical records. The onset of movement disorders was thought to be sudden. In 13 patients, the movement disorders were precipitated by hyperventilation or emotional stress. Twenty-seven of the 42 patients developed chorea, 4 patients developed dystonia, and 4 developed a mixture of both. The movement disorders of the remaining 7 patients were described as dyskinesia. A third of the 42 patients developed bilateral movement disorders, and their mean age was younger than that of those with unilateral movement disorders. In 37 of the 42 patients, brain imaging studies showed ischemic lesions, but the remaining 5 patients showed no parenchymal lesions. Cerebral perfusion studies showed hypoperfusion in the basal ganglia and in the cerebral cortical areas. Most patients improved whether they were treated or not. MMD must be included in the differential diagnosis of the sudden onset of dyskinesias, particularly chorea and focal dystonia. Even in patients with no parenchymal lesion in brain imaging studies, cerebral angiography and cerebral blood perfusion studies must be performed, if they develop a sudden onset or recurrent movement disorders preceded by emotional stress or hyperventilation.
A seven year-old male presented to his pediatrician with choreiform movements and a recent history of sore throat. He was diagnosed with Sydenham's chorea based on clinical criteria and laboratory evidence. Worsening symptoms prompted a magnetic resonance imaging (MRI) of the brain which demonstrated evidence of Moyamoya disease. Sydenham's chorea is a common and well-documented complication of post-streptococcal infection, but has not been previously reported in association with Moyamoya disease. This case raises the quandary of causality of chorea in this patient and the need for neuroimaging in children with movement disorders.
A 54-year-old woman presented choreic movements in left face and extremities for three months. Cerebral angiography revealed occlusions of bilateral internal carotid arteries (right: after the furcation of posterior communicating artery; left: after the furcation of opthalmic artery) and net-like collaterals around the basal ganglia region (Moyamoya vessels). Haloperidol rapidly resolved the choreic movements and no recurrence was observed. PET demonstrated misery perfusion at bilateral temporo-parietal cortices. Especially, right peri-sylvian region showed the most severe ischemia. MRI demonstrated no infarcts. Therefore, ischemia of the right striatum was suspected to be the cause of the left-sided hemichorea. Previously, Moyamoya disease presenting chorea was infrequently reported in young people of less than 20 years of age. This is the first report of the aged patient of Moyamoya disease presenting with hemichorea and severe misery perfusion.
The oculo-auricular phenomenon consists of coactivation of the ocular rectus lateralis and the posterior muscles of both ears (transverse auriculae and obliquus auriculae muscles). This coactivation produces a bilateral curling of auricles during extreme lateral gaze that can be observed in as much as an 80% of the normal population. We herein describe a 26-year-old man who presented a transient oculo-auricular phenomenon in the course of a vestibular vertigo.
We report on a case of neuroparacoccidioidomycosis that presented with a midbrain mass lesion associated with Holmes' tremor. The difficulties of pharmacological treatment of such tremor are emphasized.
Hereditary chin trembling is a rare autosomal dominant condition that has been linked to chromosome 9q13-21 in one kindred. We describe a four-generation family with this condition and, using linkage analysis, have excluded the 9q13-21 region as causing the chin trembling in this family.
We report on an adult with opsoclonus-myoclonus-ataxia syndrome experiencing widely spaced neurological relapses, who was followed for 41 years. His responses to treatment are described.
Cerebrospinal fluid (CSF) analysis of pterin and monamine metabolites was performed before and after an attack in a patient with paroxysmal exercise-induced dystonia. A twofold increase in CSF homovanillic acid and 5-hydroxyindoleacetic acid after an attack was measured. This finding lends support to the hypothesis that increased dopaminergic transmission contributes to the clinical features of the hyperkinetic movement disorders.
We present a 24-year-old man with idiopathic segmental cervical and truncal dystonia of juvenile onset. His condition improved after unilateral stimulation of the internal globus pallidus ipsilateral to the contracting sternocleidomastoid muscle.
We describe a case with unilateral moyamoya disease that showed progressive hemichorea as an initial manifestation. Single photon emission computed tomography showed perfusion defect in the contralateral basal ganglia although magnetic resonance imaging was unremarkable. Hemichorea improved along with normalization of perfusion after bypass surgery, suggestive of striatal hypoperfusion as the cause of hemichorea.
Steele-Richardson-Olszewski syndrome (SROS) is a neurodegenerative disorder of unknown aetiology, most frequently sporadic. Familial cases of SROS have been described. An intronic polymorphism of the tau gene is associated with sporadic SROS and mutations of the tau gene are present in atypical cases of SROS. The role of tau has been excluded in other families with pathology proven SROS, suggesting that this syndrome may have multiple causes. An 82-year-old patient, father of 3 children with autosomal recessive juvenile parkinsonism due to combined heterozygous mutations of the parkin gene, developed clinical features of SROS 2 years before death. The diagnosis was confirmed by pathology. He carried the C212Y mutation of the parkin gene and was homozygous for the A0 polymorphism and for the H1 haplotype. The role of parkin in the processing of tau is discussed.
Among 30 Parkinson's disease patients who received high frequency stimulation of the subthalamic nucleus, 5 developed remarkable disorders of mood or sexual behavior after the implant. We describe 2 men who developed mania and hypersexuality a few days after the implant that lasted for some months and then gradually disappeared spontaneously.
The occurrence of persistent hemiballism after subthalamotomy for Parkinson's disease (PD) has not been described as frequently as mild or transient dyskinesia. We report on 2 patients with advanced PD who developed hemiballism and/or dyskinesia after subthalamotomy. One patient with a small lesion confined to the subthalamic nucleus (STN) developed persistent hemiballism; the other with a larger lesion involving the STN and also the zona incerta presented with a transient dyskinesia in a single limb. We conclude that a precise STN lesion might bear a potential risk of persistent hemiballism.
Abrupt clozapine withdrawal can cause rebound psychosis and severe somatic symptoms in psychiatric patients. We report on the case of an advanced Parkinson's disease patient who developed myoclonus, tremor, rigidity, hyperreflexia, and stupor after abrupt clozapine withdrawal. The patient's symptoms resolved with treatment with cyproheptadine. This clinical picture suggests serotonergic rebound as an explanation for the patient's symptoms, although other pharmacological mechanisms are possible. Clozapine should be gradually withdrawn over a period of 1 to 2 weeks when possible, and abruptly discontinued only when necessary.
We report on 2 patients with idiopathic Parkinson's disease who experienced marked improvement in symptoms following the addition of itraconazole to current cabergoline treatment. Plasma levels of cabergoline were analyzed in one of the patients and increased to approximately 300% during treatment with itraconazole, which paralleled major clinical improvement.
Moyamoya disease (MMD) is an uncommon intracranial vasculopathy that typically presents with ischemic or hemorrhagic stroke. Persistent choreoathetosis has been identified as a rare early manifestation of MMD. We present 2 patients with paroxysmal dyskinesia as the initial symptom of MMD, one resembling paroxysmal kinesigenic dyskinesia (PKD) and the other paroxysmal non-kinesigenic dyskinesia (PNKD). We also review the cases of moyamoya-induced chorea reported previously, none of which resembled PKD or PNKD. We hypothesize that both hormonal and ischemic factors may be implicated in the pathogenesis of these abnormal involuntary movements. These cases suggest that MMD should be included in the differential diagnosis of PKD and PNKD.
The epsilon-sarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonus-dystonia. Linkage to the SGCE locus has been detected in the majority of families tested, and mutations in the coding region have been found recently in families with autosomal dominant myoclonus-dystonia. To evaluate the relevance of SGCE in myoclonus-dystonia, we sequenced the entire coding region of the epsilon-sarcoglycan gene in 16 patients with either sporadic or familial myoclonus-dystonia. No mutations were found. This study suggests that epsilon-sarcoglycan does not play an important role in sporadic myoclonus-dystonia and supports genetic heterogeneity in familial cases.
In a prior study, 10 patients with focal hand dystonia learned braille reading as sensory training for 8 weeks. Practice time was 30 to 60 minutes daily. They improved both their spatial acuity using the Grating Orientation Discrimination Task (GOT) and their dystonia using the Fahn scale. Three patients continued training for 1 year. Patients showed further improvement in the GOT, writing a standard paragraph, and self-rating scales. Sensory training lasting longer than 8 weeks may lead to continued improvement.
We report a patient with moyamoya disease presenting with paroxysmal exercise-induced dyskinesia (PED). A 31-year-old lathe man developed recurrent attacks of paroxysmal hemichorea. The attacks always affected his left limbs and occurred either after several hours of working or while playing football. The duration of attacks ranged from 30 min to 4h. Attacks were not provoked by sudden movements, consumption of coffee or alcohol, hyperventilation, emotional stress, exposure to cold or passive movement. An MRI of the brain showed no parenchymal lesions. However, (99m)Tc-ethylcysteine dimer SPECT study showed hypoperfusion in the right striatum. Digital subtraction angiography showed stenosis of the right internal carotid and middle cerebral artery with prominent basal collaterals, which was compatible with moyamoya disease. Imaging studies of the cerebral arteries should be done in patients with clinical features of PED in order to detect possible cases of moyamoya disease.
A mutation of the DYT1 gene, which codes for torsinA, has been identified as a cause of autosomal dominantly inherited dystonia. The function of torsinA is not yet known, but it is found throughout the central nervous system and has been identified in Lewy bodies in Parkinson's disease. We examined cases of Huntington's disease, spinocerebellar ataxia type III, and Huntington's disease-like 2 using antibodies to torsinA, and found that ubiquitinated, intranuclear neuronal inclusions were torsinA-immunoreactive, possibly indicating a role for torsinA in protein degradation.
We report the case of a 13-year-old boy with disabling chorea due to moyamoya disease. His chorea seemed to improve with steroid therapy. We conclude that steroid therapy may ameliorate moyamoya-associated chorea, and perioperative steroids can confound neurosurgical outcome. We are unable to assess the effect of cerebrovascular bypass procedures on the outcome of chorea in this patient.
Three children with moyamoya disease are reported whose initial and predominant manifestations were choreic movements. Two of the patients presented with unsteady gait and the other with clumsiness. Choreic movements were recurrent and were often triggered by excitement, emotional tension, or crying. They occurred unilaterally or bilaterally and often alternated between the right and left. Moyamoya disease must be considered in the differential diagnosis of acquired chorea in children.
An 11-year-old girl with Down syndrome is reported with moyamoya syndrome; she presented with chorea and mental regression, but had no hemiplegia or convulsions. Magnetic resonance imaging and magnetic resonance angiography were valuable for diagnosis of moyamoya syndrome. It is suggested that moyamoya syndrome be considered as a possible cause of involuntary movements in Down syndrome patients.