VHL (Von Hippel-Lindau) SYNDROME
Clinical information: Difficulty in urination.
Findings:
Pancreas is almost completely replaced by the multiple cystic lesions. Few of them show calcified areas within. No obvious enhancing solid component is seen.
Heterogeneously enhancing fairly well defined lesion is seen at mid pole of left kidney. It shows few non-enhancing areas within likely necrotic or cystic areas.
This lesion is seen extending into left renal pelvis and proximal ureter.
Another similar characteristic lesion is seen at upper pole of left kidney.
Few non-enhancing cortical and exophytic cysts are seen in both kidneys.
Another fairly well defined inhomogeneously enhancing lesion at the mid pole of right kidney. It abuts right renal artery anteriorly.
Above findings are suggestive of neoplastic etiology, likely syndromic. Possibility of VHL syndrome merits consideration.
Discussion:
Von Hippel-Lindau (VHL) disease is characterized by the development of numerous benign and malignant tumors in different organs (at least 40 types 1) due to mutations in the VHL tumor.
The disease is rare with an estimated prevalence of 1:35,000-50,000.
Clinical presentation is varied, depending on the site of disease manifestation. Most commonly these are either within the abdominal cavity or affect the central nervous system.
VHL can be classified according to clinical phenotypes, and the classification correlates with particular genotypes:
- Type 1: Low-risk for pheochromocytoma but higher-risk for CNS hemangioblastoma, renal cell carcinoma, pancreatic cyst, and pancreatic neuroendocrine tumor.
- Type 2A: High-risk for pheochromocytoma; low-risk for renal cell carcinoma.
- Type 2B: High-risk for pheochromocytoma and renal cell carcinoma.
- Type 2C: High-risk for pheochromocytoma only.
