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戈谢病与孤立性浆细胞瘤同时发生,并进展为多发性骨髓瘤。

Synchronous presentation of Gaucher disease and solitary plasmacytoma with progression to multiple myeloma.

机构信息

Countess of Chester Hospital, Liverpool Road, Chester, Cheshire CH2 1UL, UK.

出版信息

Scott Med J. 2011 Nov;56(4):236. doi: 10.1258/smj.2011.011178.

DOI:10.1258/smj.2011.011178
PMID:22089053
Abstract

A 37-year-old Polish immigrant presented with unilateral hip pain and difficulty weight-bearing. Plain radiography and magnetic resonance imaging (MRI) revealed a lytic lesion in the acetabulum, with abnormal serum electrophoresis and bone marrow biopsy. The patient was diagnosed with two rare conditions presenting synchronously - Gaucher disease and plasmacytoma. He was treated with enzyme therapy and radiotherapy, but subsequently developed a recurrence of plasmacytoma in the right femur, confirmed with bone marrow biopsy. This was also treated with radiotherapy, followed by a retrograde femoral nail to reduce the risk of pathological fracture. The patient went on to develop multiple lytic lesions in the ribs and vertebra, seen on MRI. Further bone marrow biopsy confirmed dissemination of the plasmacytoma into multiple myeloma, for which he was treated with systemic chemotherapy. In patients presenting with refractory bone or joint pain, haematological and histological investigations should be considered to exclude less common diagnoses.

摘要

一位 37 岁的波兰移民患者出现单侧髋关节疼痛和负重困难。普通 X 线摄影和磁共振成像(MRI)显示髋臼有溶骨性病变,伴有异常血清电泳和骨髓活检。该患者被诊断为两种罕见疾病同时发生 - 戈谢病和浆细胞瘤。他接受了酶治疗和放疗,但随后在右侧股骨中浆细胞瘤复发,骨髓活检证实了这一点。同样采用了放疗治疗,随后进行逆行股骨钉固定以降低病理性骨折的风险。该患者随后在肋骨和脊椎上出现了多个溶骨性病变,MRI 上可见。进一步的骨髓活检证实浆细胞瘤已扩散为多发性骨髓瘤,他接受了全身化疗治疗。对于出现难治性骨或关节疼痛的患者,应考虑进行血液学和组织学检查,以排除不太常见的诊断。

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Scott Med J. 2011 Nov;56(4):236. doi: 10.1258/smj.2011.011178.
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