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von Hippel-Lindau Syndrome


KEY FACTS

Terminology

  • Autosomal-dominant familial syndrome with hemangioblastomas (HGBLs), clear cell renal carcinoma, cystadenomas, pheochromocytomas

Imaging

  • 2 or more CNS HGBLs or 1 HGBL plus visceral lesion or retinal hemorrhage

  • HGBLs vary from tiny mass to very large with even larger associated cysts

Top Differential Diagnoses

  • Vascular metastasis

  • Solitary HGBL

  • Pilocytic astrocytoma

  • Hemispheric medulloblastoma in teenager or young adult

  • Multiple arteriovenous malformations in vascular neurocutaneous syndrome

Pathology

  • von Hippel-Lindau (VHL) phenotypes, subtypes based on absence or presence of pheochromocytoma

    • Type 1: Low risk of pheochromocytoma

    • Type 2: High risk of pheochromocytoma

      • –

        Type 2A (low risk of renal cell carcinoma)

      • –

        Type 2B (high risk of renal cell carcinoma)

      • –

        Type 2C (familial pheochromocytoma without either HGBL or Rathke cleft cyst)

Clinical Issues

  • Earliest symptom in VHL often visual

    • Retinal HGBL, peak in teenage years

  • HGBLs → multiple periods of tumor growth (usually associated with increasing cyst size) separated by periods of arrested growth

Diagnostic Checklist

  • Check retina, cerebellum

  • Look for ELS tumors in VHL patients with dysequilibrium, hearing loss, or aural fullness

Funduscopic examination in a patient with von Hippel-Lindau syndrome (VHL) shows a peripheral retinal angioma
supplied by prominent arteries
.

Sagittal graphic shows 2 hemangioblastomas (HGBLs) in VHL. In this patient, the spinal cord tumor has an associated cyst
and would cause myelopathy. The small cerebellar HGBL would be asymptomatic.

Sagittal T1C+FS MR in a patient with VHL shows multiple cerebellar
, spinal HGBLs
.

Coronal T1 C+ FS in an asymptomatic 26-year-old man with pancreatic cysts and a family history of VHL shows 2 solid
and 1 cystic HGBL with a mural nodule
.

TERMINOLOGY

Abbreviations

  • von Hippel-Lindau (VHL) syndrome

Definitions

  • Autosomal dominant familial syndrome with hemangioblastomas (HGBLs), clear cell renal carcinoma, cystadenomas, pheochromocytomas

    • Affects 6 different organ systems, including eye, ear, and central nervous system (CNS)

    • Involved tissues often have multiple lesions

    • Lesions → benign cysts, vascular tumors, carcinomas

IMAGING

General Features

  • Best diagnostic clue

    • 2 or more CNS HGBLs; or 1 HGBL plus visceral lesion or retinal hemorrhage

  • Location

    • HGBLs in VHL in 60-80% of patients

      • –

        Typically multiple

      • –

        40-50% in spinal cord (posterior 1/2)

      • –

        44-72% cerebellum (posterior > anterior 1/2)

      • –

        10-25% brainstem (posterior medulla)

      • –

        HGBLs arise from pia; if lesion is in deep white matter or in center of cord, it is not HGBL

    • Ocular angiomas

      • –

        Found in 25-60% of VHL gene carriers

      • –

        Cause retinal detachment, hemorrhage

    • Endolymphatic sac tumors (ELST)

      • –

        Large T-bone mass; located posterior to internal auditory canal near vestibular aqueduct

  • Size

    • HGBLs vary from tiny mass to very large with even larger associated cysts

  • Morphology

    • HGBL may be solid, solid with central necrosis, or cystic with enhancing mural nodule

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