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冯·希佩尔-林道综合征:两例成年病例中的多器官受累凸显其多样的临床谱。

Von Hippel-Lindau Syndrome: Multi-Organ Involvement Highlighting Its Diverse Clinical Spectrum in Two Adult Cases.

作者信息

Singh Balveen, Singla Monika, Singh Romil, Rathore Sawai Singh, Gupta Animesh

机构信息

Neurology, Dayanand Medical College and Hospital, Ludhiana, IND.

Internal Medicine, Metropolitan Hospital, Jaipur, IND.

出版信息

Cureus. 2020 Jul 26;12(7):e9402. doi: 10.7759/cureus.9402.

Abstract

There is an assortment of disorders that have multisystem involvement. Von Hippel-Lindau (VHL) syndrome, a rare autosomal dominant disease, falls in that category. VHL syndrome is associated with the formation of benign and malignant tumors in the central nervous system (CNS), adrenal gland, kidney, and eyes. In this report, we present two unusual cases of VHL syndrome presenting with multisystem engagement. The first case is of a 27-year-old male exhibiting multiple manifestations, which included hemangioblastoma of the spine, pheochromocytoma, pancreatic cyst, and retinal hemangioblastoma. The second case pertains to a 25-year-old male with various presentations ranging from retinal hemangioblastoma and pancreatitis to spinal and cerebellar hemangioblastoma. These cases emphasize the value of radiologic imaging and genetic assessment early in life when the presentation of the disease is in its preliminary stage. When an individual presents with a condition characterized by unexplained multifarious organ involvement of CNS, adrenal glands, and kidneys in the span of a few years, a differential diagnosis of VHL syndrome should be considered.

摘要

有多种疾病会累及多个系统。希佩尔-林道(VHL)综合征是一种罕见的常染色体显性疾病,就属于这一类。VHL综合征与中枢神经系统(CNS)、肾上腺、肾脏和眼睛中良性和恶性肿瘤的形成有关。在本报告中,我们展示了两例表现为多系统受累的VHL综合征罕见病例。第一例是一名27岁男性,有多种表现,包括脊柱血管母细胞瘤、嗜铬细胞瘤、胰腺囊肿和视网膜血管母细胞瘤。第二例是一名25岁男性,有多种表现,从视网膜血管母细胞瘤、胰腺炎到脊柱和小脑血管母细胞瘤。这些病例强调了在疾病处于早期阶段时进行放射影像学检查和基因评估的重要性。当一个人在几年内出现以中枢神经系统、肾上腺和肾脏不明原因的多器官受累为特征的疾病时,应考虑VHL综合征的鉴别诊断。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0606/7449644/2f5352394179/cureus-0012-00000009402-i01.jpg

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