Ben Ghorbel I, Ben Salem T, Lamloum M, Khanfir M, Braham A, Miled M, Ben Romdhane N, Houman M H
Service de médecine interne, hôpital La Rabta, 1007 Tunis, Tunisia.
Rev Med Interne. 2011 Jun;32(6):e79-80. doi: 10.1016/j.revmed.2010.06.015. Epub 2010 Aug 12.
Neurological manifestations in polycytemia vera are common. However, chorea is an exceptionally revealing feature of this disease. We report a 78-year-old man who presented with headache and an abnormal movement disorder corresponding to chorea. Laboratory findings showed increased levels of hemoglobin at 20 g/dl and hematocrit at 62.3%. An elevated erythrocyte mass to twice the normal value demonstrated the absolute erythrocytosis. A JAK2 V617F gene mutation was identified. A diagnosis of polycytemia vera-associated chorea was obtained. Clinical and biological outcomes were favorable after therapeutic phlebotomy and treatment with hydroxyurea. We recommend a complete blood cell count in elderly patient presenting with chorea to eliminate a diagnosis of polycytemia vera.
真性红细胞增多症的神经学表现很常见。然而,舞蹈症是这种疾病一个格外具有揭示性的特征。我们报告一名78岁男性,他出现头痛以及与舞蹈症相符的异常运动障碍。实验室检查结果显示血红蛋白水平升高至20 g/dl,血细胞比容为62.3%。红细胞量升高至正常值的两倍证实了绝对红细胞增多症。检测到JAK2 V617F基因突变。确诊为真性红细胞增多症相关舞蹈症。治疗性放血和羟基脲治疗后临床和生物学结果良好。我们建议对出现舞蹈症的老年患者进行全血细胞计数,以排除真性红细胞增多症的诊断。