Imaging manifestations of von Hippel-Lindau disease: an illustrated guide focusing on the central nervous system
| Autor: | João Luiz Veloso Mourão, Luiz Fernando Monte Borella, Juliana Ávila Duarte, Mariana Dalaqua, Daniel Alvarenga Fernandes, Fabiano Reis |
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| Rok vydání: | 2021 |
| Předmět: |
Doença de von Hippel-Lindau
endocrine system diseases Tomography X-ray computed Endolymphatic sac/pathology von Hippel-Lindau disease urologic and male genital diseases Ressonância magnética female genital diseases and pregnancy complications Hemangioblastoma Saco endolinfático/patologia Magnetic resonance imaging Tomografia computadorizada Radiology Nuclear Medicine and imaging neoplasms |
| Zdroj: | Radiologia Brasileira, Issue: ahead, Published: 02 MAY 2022 |
| ISSN: | 0100-3984 |
| Popis: | A doença de von Hippel-Lindau (VHL) é uma síndrome hereditária autossômica dominante rara que afeta a linha germinativa do gene VHL, um gene supressor tumoral. A doença de VHL é caracterizada pelo desenvolvimento multissistêmico de uma variedade de tumores benignos e malignos, especialmente no sistema nervoso central (SNC). Dentre eles, destacam-se hemangioblastomas retinianos e do SNC, e o tumor do saco endolinfático. Os diferentes locais dos tumores justificam a diversidade de sinais e sintomas relacionados à doença, que usualmente se manifestam com a idade média de 33 anos. Apesar dos avanços da medicina, a expectativa de vida média desses pacientes é de 49 anos. Exames de imagem têm papel fundamental no diagnóstico e são essenciais no seguimento dos pacientes com doença de VHL. Este ensaio iconográfico descreve as manifestações características dos tumores do SNC relacionados à doença de VHL que todos os residentes de radiologia devem saber. Abstract Von Hippel-Lindau (VHL) disease is a rare, autosomal dominant inherited syndrome that affects the germline of the VHL gene, a tumor suppressor gene. VHL disease is characterized by the multisystemic development of a variety of benign and malignant tumors, especially in the central nervous system (CNS). Such tumors include retinal and CNS hemangioblastomas, as well as endolymphatic sac tumors. The various tumor sites are responsible for the diversity of signs and symptoms related to the disease. The mean age at symptom onset is 33 years. Despite medical advances, the average life expectancy of patients with VHL disease is 49 years. Imaging plays a pivotal role in the clinical diagnosis and is essential to the follow-up of patients with VHL disease. This pictorial essay describes characteristic CNS manifestations of VHL disease-related tumors that all radiology residents should be aware of. |
| Databáze: | OpenAIRE |
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