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.     

Chorea in Late-Infantile Neuronal Ceroid Lipofuscinosis: An Atypical Presentation

PurposeClassic late-infantile neuronal ceroid lipofuscinosis is characterized by progressive intellectual and motor deterioration, seizures, vision loss, and early death. Prominent chorea is an atypical feature and is rarely described in children.MethodsA four-year-old girl with seizures followed by a year-long progressive cognitive decline and a three month history of intermittent chorea leading to rapid motor deterioration. The onset of illness was marked by seizures occurring as generalized tonic–clonic seizures and myoclonic jerks. There was gradual regression of cognitive milestones with increasing forgetfulness and impaired quality and content of speech. Nine months later, she developed chorea. These movements were associated with clumsiness, incoordination, and progressive loss of motor milestones. She was unable to perform manual tasks or maintain antigravity posture resulting in unsteadiness and frequent falls. The movements were aggravated by action or excitement and were absent in sleep.ResultsMagnetic resonance imaging depicted diffuse cerebral and cerebellar atrophy. Sequencing analysis of TPP1 gene showed a novel, homozygous, splice site mutation c.89+1G>A which resulted in nil enzyme activity and a severe phenotype with onset of disease symptoms at an early age of three years.ConclusionsThe presence of chorea in late-infantile neuronal ceroid lipofuscinoses is atypical but does not exclude the diagnosis of late-infantile neuronal ceroid lipofuscinoses, especially in children with psychomotor regression, seizures and diffuse brain atrophy.     

Pregnancy in patients with Sydenham's Chorea

BackgroundSydenham’s Chorea is a frequent cause of chorea during pregnancy, chorea gravidarum. The aim of this article is to describe the effect of pregnancy in a consecutive series of patients with diagnosis of Sydenham’s Chorea.MethodsA chart review was performed of all patients with the diagnosis of Sydenham’s Chorea followed up at our institution from 07/1993 through 08/2010 and who became pregnant.ResultsFrom 66 patients, 20 became pregnant. Of these 20 patients, 15 (75%) developed chorea gravidarum. Generalized chorea was found in 67% of these 15 patients, focal or multifocal chorea was identified in 20% and 13.4% developed hemichorea. In 80% of cases chorea began in the first 6 months of gestation. Three women with previous persistent chorea experienced worsening of the movement disorder during pregnancy. Remission occurred after delivery in 11 patients whereas the other four remained with non-disabling chorea during the first 12 months after delivery. Abortion occurred in two patients (13%). All patients with chorea gravidarum subsequently treated with oral contraceptives developed recurrence of chorea.ConclusionsChorea gravidarum is a frequent complication of pregnancy in patients with previous history of Sydenham’s Chorea and an increased risk of miscarriage should be considered. Our findings confirm the notion that chorea gravidarum results from hormonal changes acting on previously dysfunctional basal ganglia.     

Dystonia-predominant adult-onset Huntington disease: association between motor phenotype and age of onset in adults

BACKGROUND: In juvenile Huntington disease (HD), dystonia as well as parkinsonism and eye movement abnormalities may be the predominant motor signs rather than chorea. Several patients have come to our attention with adult-onset HD in whom there is prominent dystonia and minimal chorea (ie, an adult-onset form of HD that resembles juvenile HD). OBJECTIVES: To estimate the prevalence of these cases of dystonia-predominant HD in a clinic and to study the relationship between the motor phenotype and age of onset in HD. METHODS: The Unified Huntington's Disease Rating Scale (UHDRS) was administered to 127 subjects during their initial visit to the Huntington's Disease Center at the New York State Psychiatric Institute, where dystonia, chorea, bradykinesia, rigidity, and eye movements were rated. The dystonia score was the mean UHDRS rating of dystonia in 5 body regions; the chorea score, the mean rating of chorea in 7 regions; the bradykinesia score, the mean rating of axial and limb bradykinesia; the rigidity score, the mean rating of rigidity in both arms; and the eye movement score, the mean rating of ocular pursuit, saccade initiation, and velocity. Dystonia-predominant HD was defined by the severity of dystonia relative to the severity of chorea. RESULTS: Fifteen (11.8%) of 127 subjects had dystonia-predominant HD. Age of onset correlated negatively (r= -0. 22, P=.02) with the dystonia score divided by the chorea score and negatively (r= -0.28, P=.002) with the severity of dystonia, bradykinesia, and eye movement abnormalities relative to chorea (ie, [(dystonia score + bradykinesia score + eye movement score)/3] - chorea score), suggesting that subjects with younger ages of onset had more severe dystonia, bradykinesia, and eye movement abnormalities relative to chorea. CONCLUSIONS: Cases of adult-onset HD with prominent dystonia and a paucity of chorea may represent 1 in 8 cases in specialty clinics. Age of onset was clearly associated with the motor phenotype. A younger age of onset was associated with more severe dystonia, bradykinesia, and eye movement abnormalities relative to chorea, supporting the notion that in adult-onset HD, the motor phenotype forms a continuum with respect to age of onset.     

Manejo de la enfermedad de Parkinson y otros trastornos del movimiento en mujeres en edad fértil: parte 2

IntroductionMany diseases associated with hyperkinetic movement disorders manifest in women of childbearing age. It is important to understand the risks of these diseases during pregnancy, and the potential risks of treatment for the fetus.ObjectivesThis study aims to define the clinical characteristics and the factors affecting the lives of women of childbearing age with dystonia, chorea, Tourette syndrome, tremor, and restless legs syndrome, and to establish guidelines for management of pregnancy and breastfeeding in these patients.ResultsThis consensus document was developed through an exhaustive literature search and a discussion of the content by a group of movement disorder experts from the Spanish Society of Neurology.ConclusionsWe must evaluate the risks and benefits of treatment in all women with hyperkinetic movement disorders, whether pre-existing or with onset during pregnancy, and aim to reduce effective doses as much as possible or to administer drugs only when necessary. In hereditary diseases, families should be offered genetic counselling. It is important to recognise movement disorders triggered during pregnancy, such as certain types of chorea and restless legs syndrome.     

Parkinsonian signs and symptoms in adults with a history of Sydenham's chorea

BackgroundSydenham’s chorea is associated with dysfunction of fronto-striatal circuits induced by cross-reactive antibodies to group A β-hemolytic streptococcus. High susceptibility of extrapyramidal effects of neuroleptics in patients with Sydenham’s chorea suggests underlying nigro-striatal dysfunction.ObjectiveTo study the presence of parkinsonism in patients with a history of Sydenham’s Chorea.MethodsWe used the UFMG Sydenham’s Chorea Rating Scale (USCRS) and the Unified Parkinson’s Disease Rating Scale (UPDRS) part III, respectively, to determine the presence of chorea and parkinsonian symptoms and signs in 25 adults with a history of previous Sydenham’s Chorea currently without chorea or use of anti-choreic drugs.ResultsBradykinesia was found in 64% of subjects. There was a statistically significant correlation between bradykinesia and hemichorea (?0.412; p = 0.036) and bradykinesia and generalized chorea (0.412; p = 0.036). There was no correlation between bradykinesia and use of anti-choreic drugs.ConclusionsBradykinesia is common in patients with Sydenham’s Chorea in remission. This finding suggests an immune-mediated dysfunction of the nigro-striatal system.     

Generalized chorea due to basal ganglia lacunar infarcts

Although hemichorea is often ascribed to a vascular lesion, generalized chorea of adult onset is often thought to be due to degenerative diseases. We describe a 74-year-old woman with generalized chorea that was diagnosed at autopsy as due to multiple lacunar infarcts in the basal ganglia. Generalized chorea in adults may be caused by vascular disease of the basal ganglia.     

Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder

ObjectivesMutations in GNAO1 have been described in 11 patients to date. Although most of these individuals had epileptic encephalopathy, four patients had a severe movement disorder as the prominent feature. We describe the largest series of patients with de novo GNAO1 mutations who have severe chorea, developmental delay, and hypotonia in the absence of epilepsy.MethodsSix patients with recurrent missense mutations in GNAO1 as detected by whole exome sequencing were identified at three institutions. We describe the presentation, clinical course, and response to treatment of these patients.ResultsAll six patients exhibited global developmental delay and hypotonia from infancy. Chorea developed by age four years in all but one patient, who developed chorea at 14 years. Treatments with neuroleptics and tetrabenazine were most effective in the baseline management of chorea. The chorea became gradually progressive and marked by episodes of severe, refractory ballismus requiring intensive care unit admissions in four of six patients. Exacerbations indirectly led to the death of two patients.ConclusionsPatients with GNAO1 mutations can present with a severe, progressive movement disorder in the absence of epilepsy. Exacerbations may be refractory to treatment and can result in life-threatening secondary complications. Early and aggressive treatment of these exacerbations with direct admission to intensive care units for treatment with anesthetic drips may prevent some secondary complications. However the chorea and ballismus can be refractory to maximum medical therapy.     

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.     

Effect of climatic temperature on the age of onset of Huntington's chorea

The age of 1,403 subjects at onset of Huntington's chorea were drawn from the literature and related to the mean annual, January, and July temperatures of their place of residence. When the data were converted into mean annual, winter, and summer isotherms covering a range of 10° F (5·6° C), there was a statistically significant decrease in age of onset as the temperature increased. Over the ranges studied, winter temperatures exerted a stronger effect than summer temperatures. To reduce interference by ethnic factors, the analysis was repeated on North American subjects with similar results. It is suggested that repeated infections may provoke chorea and that the observed lowering of the age of onset is associated with increased susceptibility to infection on passing from cold to warm climates.     

Psychiatric disorders in persistent and remitted Sydenham's chorea

BackgroundSydenham's chorea (SC) has been associated with increased frequency of psychiatric disorders. The objective of the present study was to determine whether there is any difference in the frequency of psychiatric disorders between SC patients in remission and patients with persistent chorea.MethodsFifty consecutive patients with SC (mean age ± SD, years; 21.5 ± 6.7; M/F; 10/40) were subjected to a comprehensive and structured psychiatric evaluation.ResultsThe most frequent psychiatric disorders observed in SC patients were: major depression (14%); generalized anxiety disorder (16%), social phobia (24%) and obsessive-compulsive disorder (24%). The frequency of psychiatric disorders did not differ between SC patients in remission in comparison with patients with persistent chorea, except for depressive disorders which were more frequent in the laterConclusionsPsychiatric disorders are common among young adults with SC regardless of the status of motor symptoms.     

Chorea, polycythaemis, and cyanotic heart disease.

Two cases of polycythaemic chorea are described, both of which were complicated by severe heart disease. The first was a child with patent ductus arteriosus and coarctation of the aorta causing severe cyanosis and secondary polycythaemia. Chorea began intermittently at an early age, becoming continuous by his fifth birthday. The second was a middle-aged male with tight mitral stenosis and a story of paralytic chorea in his teens. Polycythaemia rubra vera was eventually diagnosed two years after mitral valvotomy, some seven years after the onset of chorea.     

Putaminal petechial haemorrhage as the cause of chorea: a neuroimaging study

OBJECTIVES—A hyperintense putamen on either CT orMRI as a finding associated with chorea has occasionally been describedand is almost always associated with non-ketotic hyperglycaemia. Thecause of the hyperintensity of the striatum in these images is stillcontroversial. Some reports have found that calcification wasresponsible whereas others have advocated petechial haemorrhage as thecause. The purpose of this study was to determine whether hyperintensestriata are caused by petechial haemorrhage or calcification, with the sequential imaging changes.
SUBJECTS AND METHODS—Five patients presentingwith an acute onset of either hemichorea or generalised chorea andshowed either unilateral or bilateral hyperdense striatum on theinitial CT were assessed. Neuroimaging studies including sequential CTand MRI examinations and detailed biochemical tests were performed.
RESULTS—Three patients had pronouncedhyperglycaemia and the other two patients had no biochemicalabnormalities. In all patients, the first CT scans, performed withintwo weeks of the onset of chorea, showed a high density over thestriatum contralateral to the chorea, which diminished or disappearedtwo months later. T1 weighted imaging disclosed hypersignal intensitiesover the striatum contralateral to the chorea on admission whichdiminished two months later. T2 weighted imaging at two months showedhyposignal intensity changes corresponding to the area with hypersignalchanges on T1 weighted images, implying haemosiderin deposition.
CONCLUSION—Based on the evolution of clinicalmanifestations and the findings of neuroimaging, putaminal petechialhaemorrhage might be a new entity causing either hemichorea orgeneralised chorea.

     

Persistent Sydenham's chorea.

BACKGROUND: Sydenham's chorea (SC) occurs in 26% of patients with rheumatic fever (RF). Despite usually being described as a self-limited condition, few reports indicate that SC may persist in rare subjects. OBJECTIVE: To investigate the proportion of subjects with SC lasting more than 2 years and if clinical features differentiate patients with SC with a duration of less than 2 years (Group 1) from those with SC lasting more than 2 years (Group 2). METHODS: Prospective assessment of all patients with SC seen at our service from July 1993 through March 1998 analyzing the following: gender; age at onset; frequency of arthritis, carditis, family history of RF and SC; topographic distribution; and chorea severity on a 0-4 scale. RESULTS: Thirty-two patients (19 female, 13 male) were studied. In Group 1 (16 subjects, 50%) the follow-up period was 36.2 +/- 20.0 months; 50% were female; age at onset was 10.9 +/- 2.6 years; arthritis and carditis were present in 37.5% and 31.2%, respectively; family history of SC was reported by 18.7%; hemichorea was seen in 25.8% of subjects; and the mean intensity of chorea was 2.6 +/- 0.8. In Group 2, with a follow-up period of 34.1 +/- 18.9 months, 68.8% were female; age at onset was 9.3 +/- 3.9 years; arthritis and carditis were diagnosed in 18.7% and 50%, respectively; no patient reported a family history of SC; hemichorea was observed in 6.2% of subjects; and the mean intensity of chorea was 2.8 +/- 0.5. No difference was statistically significant. CONCLUSIONS: SC persists in half of our patients. Female gender, possibly related to endocrine factors, as well as the presence of carditis, indicating a more severe disease, may be risk factors for a longer duration of SC.     

Chorea in patients with AIDS

OBJECTIVE: To describe differing etiologies and possible anatomoclinical correlates of choreic movements in a series of AIDS patients. METHODS: We analyzed the clinical records and neuroimaging data of 5 consecutive AIDS patients who developed choreic movements at our center from January, 1994 to December, 1996. RESULTS: There were 2 cases of focal choreic dyskinesias, 1 of right hemichorea, and 2 of generalized chorea. Onset was acute and febrile in 1 case, and subacute in the other 4. In 1 patient the chorea was the AIDS onset symptom; in another choreic movements were the first neurological symptom following AIDS diagnosis; in 2 patients AIDS had a neurological onset other than chorea; and in the fifth patient buccofacial dyskinesias appeared following the development of bacterial encephalitis. CONCLUSION: Chorea was associated with cerebral toxoplasmosis in 2 patients, progressive multifocal leukoencephalopathy in 1, subacute HIV encephalopathy in another, and was probably iatrogenic in the last. Chorea is not unusual in AIDS, however the causes are variable and careful neuroradiological and clinical evaluation is required to identify them. AIDS-related disease should be considered in young patients presenting with chorea without a family history of movement disorders.     

非酮症性高血糖舞蹈症七例临床及神经影像学特点

目的 探讨非酮症性高血糖舞蹈症的临床及神经影像学特点.方法 对7例非酮症性高血糖舞蹈症患者进行临床及颅脑CT和MRI检查,分析其临床及影像学特征.结果 7例患者均有糖尿病病史,平素血糖控制不良,发病时血糖较高而酮体正常,表现为单侧肢体、双侧肢体或全身舞蹈样动作.颅脑CT和MRI可见单侧或双侧基底节区异常病灶.单纯药物控制舞蹈症效果不佳,降低血糖后舞蹈症状和神经影像改变可很快恢复,不留后遗症.结论 非酮症性高血糖舞蹈症多见于年龄较大的糖尿病患者,可能与大脑基底核在高血糖状况下脑细胞代谢出现异常有关.颅脑CT或MRI改变具有特征性.本病是可逆性的,对治疗反应较好,一般不留后遗症.     

The psychiatric symptoms of rheumatic fever

OBJECTIVE: This study examined the frequency and age at onset of psychiatric disorders among children with rheumatic fever, Sydenham's chorea, or both and a comparison group. METHOD: Twenty children with rheumatic fever, 22 with Sydenham's chorea, and 20 comparison children were assessed by means of a semistructured interview and rating scales for tic disorders and obsessive-compulsive disorder. RESULTS: Obsessive-compulsive symptoms were more frequent in both the Sydenham's chorea and rheumatic fever groups than in the comparison group. The Sydenham's chorea group had a higher frequency of major depressive disorder, tic disorders, and attention deficit hyperactivity disorder (ADHD) than both the comparison and rheumatic fever groups. ADHD symptoms were associated with a higher risk of developing Sydenham's chorea. CONCLUSIONS: Both the rheumatic fever and Sydenham's chorea groups were associated with a higher risk of developing neuropsychiatric disorders than the comparison group. ADHD appears to be a risk factor for Sydenham's chorea in children with rheumatic fever.     

Choreic syndrome and coeliac disease: a hitherto unrecognised association.

Coeliac disease has been associated with a variety of neurological conditions, most frequently cerebellar ataxia and peripheral neuropathy. To date, chorea has not been associated with coeliac disease. We present the case histories of 4 individuals with coeliac disease and chorea (4 women, average age of onset of chorea 61 years). Unexpectedly, most of these patients showed a notable improvement in their motor symptoms after the introduction of a gluten-free diet.     

A 10-year experience with postpump chorea

Postpump chorea (PPC) is the development of choreoathetoid movements within 2 weeks following cardiopulmonary bypass. Over a 10-year period, 668 children underwent open cardiac surgery, of whom 8 (1.2%) developed PPC. Age at surgery ranged from 8 to 34 months. The onset of chorea was 3 to 12 days following surgery. Computed tomography and magnetic resonance imaging showed atrophy but no focal lesions. Cerebral positron emission tomography using [¹⁸F]fluorodeoxyglucose in a patient following 12 months of chorea showed patchy areas of decreased glucose metabolism. None of the patients were developmentally normal 22 to 130 months following surgery. Three patients have had transient and 5 have persistent chorea. Neurological deficits ranged from a mild learning disability to progressive hypotonia and obtundation ending in death. One of 4 patients who received haloperidol had a decrease in the severity of chorea. We compared PPC patients with 39 randomly selected controls. During surgery, affected patients spent significantly more time on pump and at temperatures under 36°C, were cooled to lower temperatures than controls, and were more likely to have had a circulatory arrest. One patient developed chorea without a history of circulatory arrest. We conclude that (1) there is a strong association between PPC, deep hypothermia, and circulatory arrest, (2) absence of characteristic macroscopic changes suggests a biochemical or microembolic etiology in some cases, (3) chorea is frequently associated with developmental delay, and (4) the prognosis for complete resolution of chorea is guarded.