Department of Urology and Renal Transplantation, Narayana Medical College and Hospital. Andhra Pradesh IND
Department of Urology, SVIMS, Andhra Pradesh. Andhra Pradesh IND
Von Hippel-Lindau disease is a dominantly inherited familial cancer syndrome with variable expression. Here we are reporting a case of von Hippel-Lindau disease in a family.
A 32-year-old male presented with a sudden onset of blurry vision in his left eye in 2002. On investigation, he was found to have bilateral retinal angiomas and bilateral renal tumors. He was treated with laser therapy for retinal angiomas. A CECT scan of the abdomen revealed bilateral renal tumors (4 cm on the right side and 1 cm on the left side) and multiple pancreatic cysts. He underwent a right partial nephrectomy and later, the patient was on regular follow-up. A twin brother was also affected and underwent surgery for bleeding from cerebellar hemangioblastoma. The patient's wife conceived, and chorionic villous sampling revealed the VHL gene was positive, and aborted. A CECT scan of the abdomen in 2007 revealed a left, lower pole renal tumor of about 4.3 cm with multiple pancreatic cysts. A DTPA renogram showed a normally functioning right kidney and a space-occupying lesion (SOL) in the left lower pole renal parenchyma. A CT brain showed a normal study. After a preoperative workup, a left partial nephrectomy was done. A frozen section revealed the margins were tumor free. A histopathology revealed a clear cell variant of low-grade renal cell carcinoma. The patient is now in follow-up.
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Reference: UroToday Int J. 2011 Oct;4(5):art64
doi:10.3834/uij.1944-5784.2011.10.6
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