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双重表现:提示冯·希佩尔-林道综合征的脊髓和小脑血管母细胞瘤。

Dual manifestations: spinal and cerebellar hemangioblastomas indicative of von Hippel-Lindau syndrome.

作者信息

Setyawan Nurhuda Hendra, Hartanto Rachmat Andi, Malueka Rusdy Ghazali, Dwianingsih Ery Kus, Dharma Dito Pondra

机构信息

Department of Radiology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/Dr Sardjito General Hospital, Yogyakarta, Indonesia.

Department of Surgery, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/Dr Sardjito General Hospital, Yogyakarta, Indonesia.

出版信息

Radiol Case Rep. 2024 Aug 17;19(11):5000-5006. doi: 10.1016/j.radcr.2024.07.158. eCollection 2024 Nov.

DOI:10.1016/j.radcr.2024.07.158
PMID:39247472
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11378091/
Abstract

Hemangioblastomas are rare, benign, and highly vascular tumors of the central nervous system, often associated with von Hippel-Lindau (VHL) syndrome, an autosomal dominant disorder characterized by multiple tumors. We present a case of a 32-year-old male with progressive headaches, visual disturbances, and motor deficits, who was diagnosed with multiple hemangioblastomas in the cervical-thoracic spinal cord and bilateral cerebellum through MRI. Surgical resection and histopathological biopsy confirmed the diagnosis. This case highlights the critical role of MRI in diagnosing and managing VHL-associated hemangioblastomas and underscores the importance of regular imaging for early detection and intervention of new or recurring tumors, optimizing patient outcomes.

摘要

血管母细胞瘤是中枢神经系统罕见的良性高血管性肿瘤,常与冯·希佩尔-林道(VHL)综合征相关,VHL综合征是一种以多发性肿瘤为特征的常染色体显性疾病。我们报告一例32岁男性患者,有进行性头痛、视觉障碍和运动功能缺损,通过磁共振成像(MRI)诊断为颈胸段脊髓和双侧小脑多发血管母细胞瘤。手术切除及组织病理学活检确诊。该病例突出了MRI在诊断和管理VHL相关血管母细胞瘤中的关键作用,并强调了定期成像对于早期发现和干预新的或复发性肿瘤、优化患者预后的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ffb1/11378091/6ea56943e3a2/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ffb1/11378091/c5a1e6f5bbf0/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ffb1/11378091/3c2748d005fc/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ffb1/11378091/18d7bdf58618/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ffb1/11378091/6ea56943e3a2/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ffb1/11378091/c5a1e6f5bbf0/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ffb1/11378091/3c2748d005fc/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ffb1/11378091/18d7bdf58618/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ffb1/11378091/6ea56943e3a2/gr4.jpg

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本文引用的文献

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Presentation, imaging, patterns of care, growth, and outcome in sporadic and von Hippel-Lindau-associated central nervous system hemangioblastomas.散发型和 von Hippel-Lindau 相关性中枢神经系统血管母细胞瘤的临床表现、影像学表现、治疗模式、生长和结局。
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First clinical experience with belzutifan in von Hippel-Lindau disease associated CNS hemangioblastoma.贝佐替凡治疗与冯·希佩尔-林道病相关的中枢神经系统血管母细胞瘤的首次临床经验。
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Neuropathologic features of central nervous system hemangioblastoma.
中枢神经系统血管母细胞瘤的神经病理学特征
J Pathol Transl Med. 2022 May;56(3):115-125. doi: 10.4132/jptm.2022.04.13. Epub 2022 May 3.
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A Challenge in Diagnosis of Cerebellar Hemangioblastoma.小脑血管母细胞瘤诊断中的一项挑战。
Cureus. 2022 Jan 29;14(1):e21713. doi: 10.7759/cureus.21713. eCollection 2022 Jan.
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J Neurosurg. 2021 Oct 1;136(6):1511-1516. doi: 10.3171/2021.3.JNS204203. Print 2022 Jun 1.
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Incidence, Prognostic Factors and Survival for Hemangioblastoma of the Central Nervous System: Analysis Based on the Surveillance, Epidemiology, and End Results Database.中枢神经系统血管母细胞瘤的发病率、预后因素及生存率:基于监测、流行病学和最终结果数据库的分析
Front Oncol. 2020 Sep 9;10:570103. doi: 10.3389/fonc.2020.570103. eCollection 2020.
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Posterior fossa tumors in children: Radiological tips & tricks in the age of genomic tumor classification and advance MR technology.儿童后颅窝肿瘤:基因组肿瘤分类和先进磁共振技术时代的放射学技巧与窍门。
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Pediatric Brain Tumor Genetics: What Radiologists Need to Know.小儿脑肿瘤遗传学:放射科医生需要了解的知识。
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