Imaging manifestations of von Hippel-Lindau disease: an illustrated guide focusing on the central nervous system

Mourão, João Luiz Veloso; Borella, Luiz Fernando Monte; Duarte, Juliana Ávila; Dalaqua, Mariana; Fernandes, Daniel Alvarenga; Reis, Fabiano

doi:10.1590/0100-3984.2021.0080-en

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Pictorial Essay • Radiol Bras 55 (3) • May-Jun 2022 • https://doi.org/10.1590/0100-3984.2021.0080-en copy

Imaging manifestations of von Hippel-Lindau disease: an illustrated guide focusing on the central nervous system

Authorship SCIMAGO INSTITUTIONS RANKINGS

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.

Keywords:
von Hippel-Lindau disease; Hemangioblastoma; Endolymphatic sac/pathology; Magnetic resonance imaging; Tomography, X-ray computed

Follow-up evaluation	Initial age	Frequency	Comments
Retinal assessment	< 1 year	Every 6-12 months	Annually, before age 30
Anamnesis and physical examination by a specialist	1 year	Yearly
Blood pressure and heart rate	2 years	Yearly
Determination of metanephrine levels	5 years	Yearly	Measurement in plasma preferred, but fractionated metanephrines may be measured in 24-h urine samples
MRI of the neuraxis (brain and spinal cord)	11 years	Every 2 years	Performed with and without contrast (no contrast during pregnancy); can be coordinated with MRI of the abdomen; thin slices in the posterior fossa and temporal bone; single MRI of the inner ear canal at 15 years of age
Audiometry	11 years	Every 2 years
MRI of the abdomen	15 years	Every 2 years	Performed with and without contrast (no contrast during pregnancy); assess kidneys, pancreas, and adrenal glands; can be coordinated with MRI of the neuraxis

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[1] Correspondence: Dr. Fabiano Reis. Universidade Estadual de Campinas - Radiologia e Diagnóstico por Imagem. Rua Vital Brasil, 251, Cidade Universitária. Campinas, SP, Brazil, 13083-872. fabianoreis2@gmail.com.