IS Case 604: von Hippel-Lindau Disease

Sara Ann Majewski, MD

Imaging Sciences URMC

Imaging Sciences URMC 2010
Publication Date: 2011-11-17

History

von Hippel-Lindau Disease

Findings

Multiple MR and CT images demonstrate cerebellar and spinal hemangioblastomas, pancreatic cyst and enhancing left renal lesion concerning for renal cell carcinoma.

Diagnosis

von Hippel-Lindau Disease

Discussion

von Hippel-Lindau (VHL) disease is autosomal dominant with penetrance in all cases and is associated with chromosome three.

CNS findings typically present in the third or fourth decade. About half of patients have hemangioblastomas, which most commonly occur in the cerebellum, but can also occur in the cerebellum, brainstem, spinal cord and retina. These are subpial nodules that enhance with contrast. MRI is the study of choice for neuroimaging. Patients may have symptoms of increased intracranial pressure such as headache and vomiting. Depending on where the lesion is located, there may be cerebellar or spinal cord symptoms.

Approximately half of patients also have renal cell carcinoma (RCC) which is bilateral in two-thirds and multiple in 80-90%. It usually presents in the third to fifth decades. Patients with RCC or hemangioblastomas can have high erythropoietin levels resulting in polycythemia. RCC is a cause of death in about two-thirds to one-half of patients. Benign renal cysts occur in less than two-thirds of patients.

More than two-thirds of patients have multiple pancreatic cysts. Cystadenocarcinoma and islet cell tumors can also occur in the pancreas.

The patient presented here has spinal and cerebellar hemangioblastomas, pancreatic cysts and a left kidney lesion suspicious for renal cell carcinoma. Other features which can occur, but are not seen in this case, are adrenal pheochromocytoma and cysts in multiple organs including the liver, spleen, omentum, mesentery, epididymus, adrenals, lung and bone. Endolymphatic sac neoplasm, cardiac rhabdomyoma, liver hemangioma or adenoma, and epididymal cystadenoma may also be seen. Abdominal findings are typically imaged with CT. The epididymus is imaged with ultrasound.

Diagnostic criteria include:

1) More than one hemangioblastoma of the central nervous system;

2) One hemangioblastoma and one visceral abnormality; or

3) Any one abnormality and positive family history.

The patient presented is an example of Type 1 VHL. The NIH classification is as follows:

• Type 1, renal and pancreatic cysts, high RCC risk and no pheochromocystoma;

• Type 2A, pheochromocytoma and pancreatic islet cell tumor; and

• Type 2B, pheochromocystoma with renal and pancreatic disease.

Please also see Case 328 for a different presentation of von Hippel-Lindau Disease.

References

  1. Dahnert, W. Radiology Review Manual. Lippincott Williams & Wilkins: New York, 2007.
  2. Leung RS, Biswas SV, Duncan M, Rankin S. Imaging features of von Hippel-Lindau disease. Radiographics. 2008 Jan-Feb;28(1):65-79. PMID: 18203931
  3. Weissleder R, Wittenberg J, Harisinghani M. Primer of Diagnostic Imaging. Mosby: Philadelphia, 2003

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