IS Case 328: von Hippel-Lindau disease

Charles Hubeny, MD


Imaging Sciences URMC 2009
Publication Date: 2009-09-15

History

Patient is a 29-year-old male with headache and nausea.

Findings

Findings consistent with von Hippel-Lindau disease.

Diagnosis

von Hippel-Lindau disease

Discussion

Von Hippel-Lindau (VHL) disease is a rare autosomal dominant disorder with features that include retinal angiomatosis, cerebellar hemangioblastomas, pheochomocytomas, renal renal cell carcinoma, and pancreatic tumors.

Subtypes of VHL include:

Type 1 (angiomatosis without pheochromocytoma)

Type 2 (angiomatosis with pheochromocytoma)

Type 2A (low risk of RCC)

Type 2B (high risk of RCC)

Type 2C (no angiomatosis or RCC, only pheochromocytoma.

The mutation for this disease is on the short arm of chromosome 3 where there is lack of the VHL tumor suppressor gene. Lack of this protein allows for development of the above tumors.

If left untreated then VHL may result in blindness, seizure, and/or brain damage. Death is a usual consequence from brain or kidney tumors. Cardiovascular disease from untreated pheochromocytoma can also result in significant mortality.

References

  1. Taouli B, Ghouadni M, Corréas JM, et al. Spectrum of abdominal imaging findings in von Hippel-Lindau disease. AJR Am J Roentgenol. 2003 Oct;181(4):1049-54. PMID: 14500227

3 images