IS Case 328: von Hippel-Lindau disease
Imaging Sciences URMC 2009
Publication Date: 2009-09-15
Patient is a 29-year-old male with headache and nausea.
Findings consistent with von Hippel-Lindau disease.
von Hippel-Lindau disease
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.
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.
- 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