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交叉性病理:一例类烟雾病与多神经病、器官肿大、内分泌病、单克隆浆细胞病和皮肤改变(POEMS)综合征并存的病例报告

Intersecting Pathologies: A Case Report on the Co-presentation of Quasi-Moyamoya Disease and Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Plasma Cell Disorder, and Skin Changes (POEMS) Syndrome.

作者信息

Satma Jana N, Moradi Iman, Khachik Lena, Saad Gina, Gonzalez Carlos

机构信息

Internal Medicine, St. George's University School of Medicine, St. George's, GRD.

Internal Medicine, Queens Hospital Center, Queens, USA.

出版信息

Cureus. 2024 Aug 1;16(8):e65934. doi: 10.7759/cureus.65934. eCollection 2024 Aug.

Abstract

Moyamoya disease (MMD) is a rare chronic vasculopathy characterized by progressive stenosis of the internal carotid arteries and the formation of fragile collateral vessels in the brain. Polyneuropathy, organomegaly, endocrinopathy, monoclonal plasma cell disorder, and skin changes (POEMS) syndrome is a rare paraneoplastic syndrome with a complex presentation that includes polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes. Here, we report a unique case of a 54-year-old male with MMD presenting with recurrent speech loss and mumbling, later diagnosed with POEMS syndrome. Initial imaging revealed Moyamoya vasculopathy, confirmed by computed tomographic angiography (CTA) and magnetic resonance imaging (MRI). Further examination revealed polyneuropathy, organomegaly, and elevated vascular endothelial growth factor (VEGF), meeting the diagnostic criteria for POEMS syndrome. The patient was treated with a cyclophosphamide-bortezomib-dexamethasone regimen, followed by the addition of daratumumab, resulting in clinical improvement. This case highlights the importance of thorough diagnostics and a multidisciplinary treatment approach for patients with complex comorbidities, emphasizing the need for early detection and targeted therapy in managing dual pathologies of MMD and POEMS syndrome.

摘要

烟雾病(MMD)是一种罕见的慢性血管病,其特征为颈内动脉进行性狭窄以及在脑内形成脆弱的侧支血管。多神经病、器官肿大、内分泌病、单克隆浆细胞病和皮肤改变(POEMS)综合征是一种罕见的副肿瘤综合征,临床表现复杂,包括多神经病、器官肿大、内分泌病、M蛋白和皮肤改变。在此,我们报告一例独特病例,一名54岁男性患有烟雾病,表现为反复言语丧失和含糊不清,后来被诊断为POEMS综合征。初始影像学检查显示烟雾病血管病变,经计算机断层血管造影(CTA)和磁共振成像(MRI)证实。进一步检查发现有多神经病、器官肿大以及血管内皮生长因子(VEGF)升高,符合POEMS综合征的诊断标准。该患者接受了环磷酰胺 - 硼替佐米 - 地塞米松方案治疗,随后加用达雷妥尤单抗,临床症状得到改善。本病例强调了对于患有复杂合并症患者进行全面诊断和多学科治疗方法的重要性,突出了在管理烟雾病和POEMS综合征双重病症时早期检测和靶向治疗的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adf7/11365197/52f02c249076/cureus-0016-00000065934-i01.jpg

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