一例伴有认知障碍的舞蹈症与多血症有关

Yu. A. Shpilyukova, O. Smetanina, A. A. Kolpina, S. N. Illarioshkin
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引用次数: 0

摘要

多发性红细胞增多症(PV)是一种克隆性骨髓增生性疾病,常伴有神经系统症状。多发性红细胞增多症的罕见表现可能包括运动障碍(主要是舞蹈症)和认知障碍(CI),经适当治疗后可完全或部分逆转。我们介绍了一例胆颤伴 CI 的 69 岁男性患者,他的 JAK2 基因被证实发生了 с1849G>T (V617F) 突变,但神经影像学检查未发现血管病变。在这名患者身上,运动障碍的消退与治疗性静脉切开术和羟基脲治疗的开始之间存在明显的相关性,因此可以得出舞蹈症为继发性舞蹈症的结论。在开始治疗后和一年的随访期间,认知症状保持在同一水平,没有进一步发展。考虑到患者的年龄,不能排除合并神经退行性疾病的可能性。因此,对于新发舞蹈症和 CI 的老年患者,考虑 PV 可能是这些疾病的病因非常重要,因为早期诊断这种疾病可以及时启动有效治疗并预防并发症的发生。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A case of chorea with cognitive impairment associated with polycythemia vera
Polycythemia vera (PV) is a clonal myeloproliferative disorder that is often associated with neurological symptoms. Rare manifestations of PV may include movement disorders (mainly chorea) and cognitive impairment (CI), which are fully or partially reversible with appropriate treatment. We present a case of chorea with CI in a 69-year-old man with a confirmed с1849G>T (V617F) mutation in the JAK2 gene with no vascular pathology on neuroimaging. In this patient, there is a clear correlation between the regression of the movement disorders with therapeutic phlebotomy and the start of treatment with hydroxyurea, which allows the conclusion that chorea has the secondary form. The cognitive symptoms remained at the same level after the start of treatment and during the one-year follow-up and did not develop further. In view of the patient's age, a concomitant neurodegenerative disease cannot be ruled out. In elderly patients with new-onset chorea and CI, it is therefore important to consider PV as a possible cause of these disorders, as early diagnosis of this condition allows timely initiation of effective treatment and prevention of the development of complications.
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