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Von Hippel-Lindau disease

Case contributed by Ammar Haouimi
Diagnosis almost certain

Presentation

Right nephrectomy four years ago, and left adrenalectomy one year ago

Patient Data

Age: 45 years
Gender: Male

Brain

mri

The MRI sequences demonstrate:

  • a well-defined right cerebellar cystic mass of low signal on T1WI, high signal on T2WI with peripheral enhancement, containing an enhancing mural nodule with mild surrounding vasogenic edema in keeping with a hemangioblastoma. No restricted diffusion on DWI/ADC. Mild mass effect is on the 4th ventricle and brainstem

  • another small cystic lesion with an enhancing mural nodule (hemangioblastoma) in the right vermian region

  • large highly lobulated extra-axial frontal mass in a sagittal and left parasagittal location, centered on the falx cerebri, vividly enhancing on postcontrast sequences with numerous tortuous vessels coursing over the surface and within the mass. Markedly elevated rCBV on MR perfusion. MR spectroscopy (not shown) revealed a marked elevation of choline, decreased creatine and NAA with no alanine peak (solitary fibroud tumor (hemangiopericytoma) rather than meningioma). Surrounding vasogenic edema with mass effect on the midline structures with a subfalcine herniation. Dilated ventricular system (3rd, and lateral ventricles) in keeping with obstructive hydrocephalus

  • signs of intracranial hypertension are noted (vertical tortuosity of the optic nerves with prominent surrounding subarachnoid space, flattening of the posterior sclera, and partially empty sella turcica)

mri
  • enhancing intramedullary lesion at C3 level, with an associated syrinx in keeping with a spinal hemangioblastoma
  • the coronal T2 sequence shows multiple left renal cysts
  • gallstones are noted

Case Discussion

This patient had a right nephrectomy for renal cell carcinoma and left adrenalectomy for a pheochromocytoma.

The association of renal cell carcinoma, renal cysts, adrenal pheochromocytoma, cerebral, and spinal hemangioblastoma are most consistent with von Hippel Lindau disease (vHL).

The association of an extra-axial cerebral mass (most likely a solitary fibrous tumor (hemangiopericytoma) in this case) and von Hippel Lindau disease is rarely reported in the literature.

 

Additional contributor: R Bouguelaa, MD.

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