Radiological considerations in von Hippel-Lindeau disease: imaging findings and the review of the literature

Abstract

Background: Von Hippel Lindau disease is an autosomal dominant multisystem/multitumoral cancer disease diagnosed by clinical, radiologic and genetic findings. Its prevalence has been estimated to be of 1/36000 inhabitants. The tumours can be benign or malignant.

Case report: We represent MR findings of a family with ten children. Mother and five siblings had von Hippel-Lindau disease.

Conclusions: Radiologic imaging is very important for the early diagnosis and treatment of asymptomatic patients. Diagnosing it early is important because the tumours in von Hippel Lindau disease are treatable. Also, an early detection allows the patient's survival and quality of life. A multidisciplinary team approach is important in screening.

Keywords: brain; magnetic resonance imaging; spine; tumours; von Hippel-Lindau.

FIGURE 1

Coronal T1 post-contrast MR image shows a large cystic tumour with enhancing mural nodule in medulla oblongata. There are surgical changes in the posterior fossa with dilated fourth and lateral ventricles.

FIGURE 2

Axial T1 post-contrast MR image shows choroid plexus papilloma in the lateral ventricle.

FIGURE 3

Sagittal T1 post-contrast MR image shows cerebellar haemangioblastoma in the foremen magnum with spinal haemangioblastomas.

FIGURE 4

Coronal T1 post-contrast MR image shows endolymphatic sac tumour on the left vestibular aqueduct.

FIGURE 5

Axial T2 weighted MR image shows multiple cysts in kidney and pancreas.

FIGURE 6

Sagittal Axial T2 weighted MR image shows multiple cysts in kidney and pancreas.