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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.

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/c5a1e6f5bbf0/gr1.jpg

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