Von Hippel Lindau Disease

  • Etiology:
    — Phakomatosis
    — Autosomal dominant
    — Associated with deactivation of VHL tumor suppressor gene on chromosome 3
  • Imaging Neurological:
    — Cerebellar hemangioblastoma (44-72%)
    — Retinal hemangioblastoma (45-59%)
    — Spinal cord hemangioblastoma (13-59%)
    — Medullary hemangioblastoma (5%)
  • Imaging Gastrointestinal:
    — Liver cysts
    — Pancreatic cysts (50-91%)
    — Neuroendocrine tumor of pancreas (5-17%)
    — Serous microcystic adenoma of pancreas (12%)
  • Imaging Genitourinary:
    — Renal cysts (59-63%)
    — Renal cell carcinoma (24-45%)
    — Pheochromocytoma (0-60%) – more often multiple (bilateral 50-80%) and ectopic (paragangliomas) (15-18%)
    — Papillary cystadenoma of epididymis (10-60%) – if bilateral is virtually pathognomonic for von Hippel Lindau and is usually located at head of epididymis and often mixed cystic and solid and not malignant
  • DDX:
  • Complications:
  • Treatment:
  • Clinical: Most common causes of death related to renal cell carcinoma and complications from cerebellar hemangioblastomas

Radiology Cases of Von Hippel Lindau Disease

Radiology Cases of Intracranial Hemangioblastoma in Von Hippel Lindau Disease

MRI of hemangioblastoma in Von Hippel Lindau disease
Axial (above), sagittal (below left) and coronal (below right) T1 MRI with contrast of the brain shows a round, solid, avidly enhancing lesion in the superior aspect of the left cerebellar hemisphere.
MRI of von Hippel Lindau disease with hemangioblastomas in the cerebellum and spine and pancreatic cysts
Axial T1 MRI with contrast of the brain (above left) shows a large cystic septated lesion in the right cerebellar hemisphere with an enhancing mural nodule posteriorly. The lesion is causing mass effect on the fourth ventricle. Sagittal T1 MRI with contrast of the thoracic spine (above right) shows a small intramedullary enhancing lesion in the mid thoracic spine and inferior to it there is cystic intramedullary lesion with an enhancing mural nodule within it. Axial T2 MRI of the abdomen (below) show multiple large high intensity lesions throughout the pancreas.

Radiology Cases of Intraspinal Hemangioblastoma in Von Hippel Lindau Disease

MRI of von Hippel Lindau disease with hemangioblastomas in the cerebellum and spine and pancreatic cysts
Axial T1 MRI with contrast of the brain (above left) shows a large cystic septated lesion in the right cerebellar hemisphere with an enhancing mural nodule posteriorly. The lesion is causing mass effect on the fourth ventricle. Sagittal T1 MRI with contrast of the thoracic spine (above right) shows a small intramedullary enhancing lesion in the mid thoracic spine and inferior to it there is cystic intramedullary lesion with an enhancing mural nodule within it. Axial T2 MRI of the abdomen (below) show multiple large high intensity lesions throughout the pancreas.

Radiology Cases of Pancreatic Cysts in Von Hippel Lindau Disease

MRI of von Hippel Lindau disease with hemangioblastomas in the cerebellum and spine and pancreatic cysts
Axial T1 MRI with contrast of the brain (above left) shows a large cystic septated lesion in the right cerebellar hemisphere with an enhancing mural nodule posteriorly. The lesion is causing mass effect on the fourth ventricle. Sagittal T1 MRI with contrast of the thoracic spine (above right) shows a small intramedullary enhancing lesion in the mid thoracic spine and inferior to it there is cystic intramedullary lesion with an enhancing mural nodule within it. Axial T2 MRI of the abdomen (below) show multiple large high intensity lesions throughout the pancreas.