Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0008489 (chorea)
 2,102 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 68-year-old woman was admitted to our hospital because of sudden onset of involuntary movements, similar to those associated with chorea, of the right side of the body and for further evaluation of thrombocythemia. She had no family history of chorea. Neurological findings did not show any abnormality except for chorea of the right side. Laboratory studies showed increased number of white blood cells (14,000/microl) and platelets (188.3 x 10(4)/ microl). Lupus anticoagulant, anti-cardiolipin antibody, and ceruloplasmin levels were within the normal range. Her NAP score was 240, and result for bcr-abl gene expression was negative. Bone marrow puncture showed hypercellularity and increased number of megakaryocytes (550/microl), but there was no atypism. On the basis of these laboratory findings, she was diagnosed with essential thrombocythemia T1-weighted magnetic resonance imaging (MRI) showed a hyperintense lesion extending from the region around the left globus pallidum to putamen. The MRI findings of our study were similar to those related to diabetic hemichorea; however, the results of some tests did not indicate diabetes mellitus. An MRI scan showing high T1 signal intensity in the basal ganglia might not be specific for diabetic hemichorea. In this case, MRI revealed the cause of hemichorea to be micocirculatory failure or small cerebral hemorrhages.
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PMID:[Case report of essential thrombocythemia with sudden onset of hemichorea]. 2148 68

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.
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PMID:Essential thrombocythemia: Rare cause of chorea. 2475 74