Chorea in the elderly with mutation positive polycythemia vera: a case report.
نویسندگان
چکیده
Chorea is a hyperkinetic movement disorder characterized by excessive spontaneous movements that are irregularly timed, randomly distributed and abrupt. Chorea in an elderly patient poses a diagnostic challenge. The differential diagnosis is broad and includes medication effects, vascular disorders, metabolic abnormalities, autoimmune syndromes and neurodegenerative disorders.1,2 Important causes of late onset chorea have been listed in the Table. A significant number of cases of late-onset chorea without a clear etiology are lumped together as “senile chorea”. This diagnostic term may obscure a subset of cases where a specific diagnosis can be clinched with further investigations. We present a case of new onset chorea in an elderly patient uncovering Polycythemia Vera (PV) with hematological examination positive for the characteristic Janus Kinase-2 (JAK2) mutation. Chorea was the only presenting feature in this patient, and treatment of polycythemia led to reduction of the abnormal movements significantly. We also review the association of PV and chorea and possible mechanism of causation of chorea in patients with polycythemia.
منابع مشابه
Chorea disclosing a polycythemia vera
Chorea is a rare complication of polycythemia. We report the case of a 70 year-old woman whose polycythemia vera (PV), with Janus Kinase-2 (JAK2) mutation, presented as chorea. Chorea resolved quickly after hydroxyurea therapy.
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Background and Aim: The JAK2 is an acquired mutation that is observed in majority of patients with classical Philadelphia-negative Myeloproliferative neoplasms that include polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF). This acquired mutation is characterized by a G to T transversion at nucleotide 1849 in exon 12 of the JAK2 gene, leading to a substitution ...
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متن کاملPrimary polycythaemia presenting with chorea.
A case of primary polycythaemia presenting with severe chorea is reported and compared with previous cases. The aetiological factors of the chorea are discussed and the importance of early diagnosis stressed.
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عنوان ژورنال:
- The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
دوره 36 3 شماره
صفحات -
تاریخ انتشار 2009