An unusual neurological complication of light chain amyloidosis
An unusual neurological complication of light chain amyloidosis
复制标题
轻链淀粉样变性的一种不寻常的神经系统并发症
DOI：
10.1111/j.1365-2141.2009.07897.x
复制
发表时间：
2010
影响因子：
6.5
通讯作者：
Shaji K. Kumar
中科院分区：
文献类型：
--
作者：
I. Sadek;P. Kapoor;M. Gertz;Shaji K. Kumar
1例59岁女性，临床表现为急性肾功能衰竭、贫血、免疫球蛋白G亚型副蛋白血症、溶骨性病变和骨髓浆细胞增多症(60%)，未见淀粉样蛋白沉积。骨髓荧光原位杂交分析显示t(11；14)(q13；q32)和单体13。肾活检发现与骨髓瘤一致的Lambda轻链铸型肾病。她通过自体干细胞移植实现了不到部分缓解。一年后，她出现双侧肩部肿胀并伴有滑膜增厚，活检显示Lambda轻链衍生的淀粉样蛋白沉积。重复的骨髓活检证实了骨髓瘤相关的淀粉样蛋白。此外，出现了手脚刺痛和麻木的新症状，最初被认为是AL淀粉样变性相关的小纤维神经病。她有轻微的上肢和下肢无力和躯干麻木，并伴有单侧巴宾斯基反射，但没有感觉水平。她否认有膀胱或大便失禁。颈椎磁共振成像显示C2-3节段(左侧和中部)脊椎旁背侧软组织内有肿瘤样肿块压迫脊髓。手术切除肿块发现一个淀粉样瘤(右图)，导致她的神经症状几乎完全消失。随后，她接受了硼替佐米-地塞米松治疗，血液学反应良好，软组织结果稳定。在最后一次随访时，她的疾病已经稳定地停止治疗近11个月。骨髓瘤相关的神经系统表现可以有多种病因。周围神经病变在多发性骨髓瘤(MM)的诊断中并不常见，通常与并发淀粉样变性或使用神经毒性药物有关。另一方面，神经根病变是多发性骨髓瘤最常见的神经系统并发症，是椎旁/髓外浆细胞瘤压迫神经的结果，或罕见的塌陷骨本身。脊髓受压的迹象需要紧急干预。在我们的患者中，压迫性神经病变是由罕见的颈部淀粉样瘤引起的。这类病例通常需要立即减压，并手术切除肿块，以避免即将发生的四肢瘫痪。
A 59-year-old female presented with acute renal failure, anaemia, immunoglobulin (Ig)G lambda paraproteinaemia, lytic bone lesions and bone marrow plasmacytosis (60%) with no evidence of amyloid deposition. Fluorescence in-situ hybridization analysis of marrow showed t(11;14)(q13;q32) and monosomy 13. Renal biopsy showed lambda light chain cast nephropathy consistent with myeloma kidney. She achieved less than a partial remission with autologous stem cell transplantation. A year later, she developed bilateral shoulder swelling with synovial thickening, and biopsy showed deposition of lambda light chain-derived amyloid. A repeat marrow biopsy confirmed myeloma-associated amyloid. In addition, a new symptom of tingling and numbness of hands and feet, initially perceived as AL amyloidosis-related small fibre neuropathy appeared. She had mild upper and lower extremity weakness and truncal numbness along with unilateral Babinski’s reflex, but no sensory level could be appreciated. She denied bladder or bowel incontinence. Magnetic resonance imaging of the cervical spine demonstrated cord compression by a tumour-like mass within the dorsal paraspinal soft tissues at the C2–3 level (left and middle panels). Surgical resection of the mass revealed an amyloidoma (right panel), and led to near complete resolution of her neurological symptoms. Subsequently, she received bortezomib-dexamethasone therapy with an excellent haematological response and stabilization of soft tissue findings. Her disease has been stable off-therapy for almost 11 months at the time of last follow-up. Myeloma-associated neurological manifestations can have diverse aetiologies. Peripheral neuropathy is not common at diagnosis in multiple myeloma (MM), and is usually related to concurrent amyloidosis or use of neurotoxic agents. Radiculopathy, on the other hand, is the most common neurological complication of MM, a result of nerve compression by paravertebral/extramedullary plasmacytoma, or infrequently, collapsed bone itself. Signs of spinal cord compression mandate urgent intervention. In our patient, compressive neuropathy resulted from a rare finding of a cervical amyloidoma. Such cases typically require prompt decompression with surgical resection of the mass to avert impending quadriparesis.