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Query: UMLS:C0409974 (lupus)
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Chorea can have many causes, some hereditary and many sporadic in nature. The archetypal hereditary cause of chorea is Huntington's disease (HD). However, this condition often manifests as a mixed movement disorder, and some individuals with the Westphal variant may not display chorea at all. Moreover, since gene-specific testing has become available, we now know that in many cases of HD, particularly those with late onset, a positive family history may be lacking. In addition, dentatorubro-pallidoluysian atrophy (DRPLA), another dominantly inherited CAG repeat disease, can produce a similar clinical picture. In both conditions, the phenotype may vary according to repeat length, and anticipation and excess of paternal inheritance in younger-onset cases with longer repeat lengths are seen. Neuroacanthocytosis is probably genetically heterogenous, and many instances of "benign hereditary chorea" have been caused by other conditions. If it exists at all, this disorder is exceedingly rare. The principal causes of sporadic chorea include drugs, pregnancy, vascular disease, thyrotoxicosis, systemic lupus erythematosus (SLE) and the lupus anticoagulant syndrome, polycythaemia rubra vera, AIDS and both initial and recurrent Sydenham's chorea. The symptomatic treatment of chorea is unsatisfactory and, at least in HD, neuropsychiatric disturbance may be much more important for the family. Potential disease-modifying treatments such as anti-excitotoxins, antioxidants, free radical scavengers and neuronal grafting are now being explored in this condition.
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PMID:Huntington's disease and other choreas. 980 38

Thrombosis, thrombocytopenia, recurrent fetal loss and a variety of non-thrombotic neurological disorders have all been associated with antiphospholipid antibodies (aPL). Cerebral ischemia associated with aPL is the most common arterial thrombotic manifestation. Depression, cognitive dysfunction, depression and psychosis have all been associated with aPL. The presumed pathophysiologic mechanism underlying these manifestations is thought to be a result of cerebral ischemia in some, but not all cases. Seizures, chorea and transverse myelitis all appear to be associated with aPL. An interaction between aPL and central nervous system cellular elements rather than aPL-associated thrombosis seems to be a more plausible mechanism for these clinical manifestations. Migraine on the other hand, does not appear to be associated with aPL in either lupus or non-lupus populations. Neuroimaging studies show an increased frequency of brain abnormalities in patients with aPL, but none appear to be specific. The best treatment strategy for preventing neurological manifestations of aPL is not fully defined. For thrombotic manifestations, both antiplatelet and anticoagulant therapies have been suggested. In some patients, immunosuppressant therapy has been used. For non-thrombotic manifestations, some combination of immunosuppressant therapy and symptomatic treatment may be warranted.
Lupus 1998
PMID:Neurological manifestations of antiphospholipid antibody syndrome. 981 77

A workshop to be held in Sapporo will attempt to upgrade criteria for the antiphospholipid syndrome (APS). These criteria should probably be based on a scoring system using both clinical and biological items. Clinical criteria could be categorized between 'major', that is thrombosis or obstetrical criteria, and 'minor', to be selected among livedo, heart valve lesions, chorea, adrenal hemorrhage, thrombocytopenia, and others. A similar approach could be proposed for biological criteria, with persistent strong LA, high IgG aCL or antibodies to beta2GPI as major criteria if the workshop accepts antibodies directed to co-factors as APS criteria. Minor criteria could include IgM aCL, low/medium IgG aCL, and VDRL. Whether anti-prothrombin, anti-oxidised LDL, and M5 anti-mitochondrial antibodies should be added to the minor criteria, is open to discussion. In our mind, other parameters should be taken into account such as: young age--a method to avoid the questionable exclusion of arteriosclerosis in cases of arterial thrombosis--and the presence of personal and/or first-degree familial features of auto-immunity. Lastly, a differential diagnosis section is probably needed.
Lupus 1998
PMID:Towards improved criteria for the antiphospholipid syndrome. 981 94

Three patients, aged five to 16 years, developed chorea as the only or main clinical manifestation of primary antiphospholipid syndrome. In two cases, complaints were self-limited five to eight months after onset. In one patient, the clinical course was complicated by valvulitis. Under corticosteroid treatment, chorea disappeared and cardiac involvement stabilised. Primary antiphospholipid syndrome is a probably under-recognised differential diagnosis of choreatic syndromes in childhood. Assessment of anticardiolipin antibodies and/or lupus anticoagulant should be an obligatory part of the diagnostic work-up of such patients. Early diagnosis of primary antiphospholipid syndrome may improve clinical management and prognosis.
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PMID:Chorea as the presenting clinical feature of primary antiphospholipid syndrome in childhood. 1083 88

Neurologic complications of systemic lupus cerebritis are not as well known in children as in adults. Twenty-five children with neurologic complications were identified after reviewing the hospital medical records of 86 children with systemic lupus erythematosus. Seven children (28%) had neurologic symptoms at the time of initial diagnosis of systemic lupus erythematosus; median time between diagnosis of systemic lupus erythematosus and onset of neurologic complications was 1 month (range 0-5 years). Seizures were the most common neurologic symptoms overall, but headaches were the most frequent neurologic manifestation in children without a previous diagnosis of systemic lupus erythematosus. Sixteen children had seizures, and 12 children had seizures as the initial central nervous system involvement. Almost all children who developed seizures had an established diagnosis of systemic lupus erythematosus; only one child had seizures that led to the diagnosis of systemic lupus erythematosus. No patient had status epilepticus, and, in general, seizures were not difficult to control. In six children, headache was the initial symptom of central nervous system involvement. Five children had lupus cerebritis, three children had stroke, and two had isolated cranial neuropathies. Chorea was seen in only two cases, and three children had pseudotumor cerebri. Treatment with high-dose intravenous methylprednisolone led to a good response in 18 children; cyclophosphamide was required in 6 patients and plasmapheresis in 1 child. Outcome was generally good, although one child developed fulminant cerebritis with intracranial hypertension and died.
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PMID:Neurologic symptoms in children with systemic lupus erythematosus. 1119 95

We describe a 36 year-old woman who developed chorea two months after starting the use of oral contraceptives. She also developed thrombocytopenia, oral ulcers, arthritis, positive antinuclear antibodies (ANA), anti-Sm and anti-DNA, filling criteria for systemic lupus erythematosus, as defined by the American College of Rheumatology. The tests for lupus anticoagulant and anticardiolipin (IgG and IgM) were negative. The patient was treated with prednisone, phenitoin, phenobarbital and clonazepam, obtaining clinical and labatorial improvement. We discuss the ocurrence of chorea and other movement disorders as first manifestation of systemic lupus erythematosus, its relationship with oral contraceptives and antiphospholipid antibodies.
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PMID:[Involuntary movement disorders as first manifestation of systemic lupus erythematosus: case report]. 1158 46

Primary anti-phospholipid syndrome (APS) is a thrombophilic state characterized by recurrent arterial and venous thrombosis, recurrent pregnancy loss, and the presence of circulating anti-phospholipid antibodies that may be responsible for thrombophilia and pregnancy morbidity. Ophthalmologic features are present in 15-88% of the patients with primary APS, thus ophthalmologists are one of the first physicians to whom the patient will present. An accurate diagnosis may save the patient from recurrent, potentially life-threatening thrombosis. In the U.S.A., an estimated 35,000 new cases of APS-related venous thrombosis occur each year in a population that is several decades younger than the patient population typically affected by thrombosis. Clinical features, such as chorea, transverse myelitis, cardiac valvular lesions, and accelerated atherosclerosis, are hypothesized to be due to a direct tissue-antibody interaction and cannot be explained purely by thrombosis. The use of recently proposed, well-defined diagnostic criteria, and better standardization of laboratory assays for the anti-phospholipid antibodies should help enable epidemiological surveys to establish the prevalence of these antibodies in patients with thrombosis and in the general population. Diagnosis of APS should be considered in all patients with recurrent systemic or ocular thrombosis in the absence of known risk factors. Several well-designed prospective studies show an increased risk of thrombosis in the presence of medium to high antibody level. With ocular involvement in as many as 88% of APS patients, an ophthalmic assessment should be an integral part of the clinical work-up of any patient with suspected or confirmed APS. The presence of isolated ocular thrombophilia with persistently elevated anti-phospholipid antibodies or lupus coagulant should confirm the diagnosis of APS. Management of these patients must be a multi-disciplinary effort with either a rheumatologist or a hematologist having the overall responsibility for coordinating treatment and monitoring the patient's immune status and anticoagulation. Treatment of isolated ocular thrombophilia in the presence of moderate to high titers of antiphospholipid antibodies should be on the same principles as patients with APS to prevent recurrent ocular or cerebral thrombosis.
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PMID:Primary anti-phospholipid antibody syndrome (APS): current concepts. 1205 9

Nervous system involvement in systemic lupus erythematosus (SLE) occurs in 24%-50% of all patients in the United States at some time during the course of their illness. Lupus cerebritis with associated headache, seizures, stroke, and chorea is just one of a wide array of central nervous system disorders SLE patients can develop. It also is one of the most difficult manifestations of lupus to diagnose. Advances in imaging and laboratory analysis have contributed to an earlier and more specific diagnosis of lupus cerebritis. Despite improvements in the ability to treat SLE, management of nervous system manifestations remains unsatisfactory. Controversy exists as to the best approach for treatment. Newer combination therapies based on anecdotal evidence are suggested.
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PMID:Lupus cerebritis: a case study. 1219 58

Involvement of the central nervous system in systemic lupus erythematosus (SLE) has been well described. It usually includes psychiatric disturbance, seizures, and cranial nerve disorders. Movement disorders are less common, chorea being the one most frequently described. A parkinsonian syndrome may be an extremely rare manifestation of cerebral lupus. We report on a case of juvenile parkinsonism as a manifestation of SLE and review the literature.
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PMID:Juvenile parkinsonism as a manifestation of systemic lupus erythematosus: case report and review of the literature. 1246 77

The classical clinical picture of the antiphospholipid syndrome (APS) is characterized by venous and arterial thromboses, fetal losses and thrombocytopenia, in the presence of antiphospholipid antibodies (aPL), namely lupus anticoagulant (LA), anticardiolipin antibodies (aCL), or antibodies to the protein "cofactor" b2 glycoprotein I. Single vessel involvement or multiple vascular occlusions may give rise to a wide variety of presentations. Any combination of vascular occlusive events may occur in the same individual and the time interval between them also varies considerably from weeks to months or even years. Deep vein thrombosis, sometimes accompanied by pulmonary embolism, is the most frequently reported manifestation in this syndrome. Cerebrovascular accidents-either stroke or transient ischemic attacks-are the most common arterial thrombotic manifestations. Early and late fetal losses, premature births and pre-eclampsia are the most frequent fetal and obstetric manifestations. Additionally, several other clinical features are relatively common in these patients, i.e., thrombocytopenia, livedo reticularis, heart valve lesions, hemolytic anemia, epilepsy, myocardial infarction, leg ulcers, and amaurosis fugax. However, a large variety of other clinical manifestations have been less frequently described in patients with the APS, with prevalences lower than 5%. These include, among others, large peripheral or aortic artery occlusions, Sneddon's syndrome, chorea, transverse myelopathy, intracardiac thrombus, adult respiratory distress syndrome, renal thrombotic microangiopathy, Addison's syndrome, Budd-Chiari syndrome, nodular regenerative hyperplasia of the liver, avascular necrosis of the bone, cutaneous necrosis or subungual splinter hemorrhages. In this article, some of these "unusual" manifestations are reviewed.
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PMID:Unusual manifestations of the antiphospholipid syndrome. 1279 62


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