Images in Clinical Medicine

von Hippel–Lindau Disease

David J.A. Goldsmith, F.R.C.P., and Philip Thomas, F.R.C.S.

N Engl J Med 1999; 340:1880June 17, 1999

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Figure 1 Evaluation of a 35-year-old man with recent headache and unsteadiness and a history of blindness of the left eye for two years revealed normal blood pressure and renal function, a hemoglobin concentration of 18.2 g per deciliter, and a hematocrit of 0.59. T₂-weighted magnetic resonance imaging (MRI) of the brain showed a cerebellar tumor (arrow in Panel A), which was found at surgery to be a benign hemangioblastoma. After the tumor was removed, his hemoglobin concentration fell to 14.5 g per deciliter. Ocular examination showed retinal hemangioblastomas, which were treated with laser ablation and led to the diagnosis of von Hippel–Lindau disease. The patient had no known family history of the disorder. Because of the diagnosis, renal ultrasonography was performed and showed cystic areas in both kidneys. Eighteen months later, the patient agreed to undergo T₂-weighted abdominal MRI, which showed complex cystic lesions at the left upper and right lower renal poles (arrow in Panel B). Renal angiography revealed a skein of ill-defined vessels with venous pooling at the left upper renal pole (arrows in Panel C), suggesting a tumor circulation. During radical nephrectomy, a large, partly cystic, partly solid tumor was found at the upper pole of the left kidney. Histologic examination showed that it was a renal-cell carcinoma, with no evidence of invasion or local metastasis. One year later, the patient underwent a partial right nephrectomy, during which an encapsulated renal-cell carcinoma was removed with the lower renal pole. The plasma creatinine concentration rose from 1.2 mg per deciliter (106 μmol per liter) preoperatively to 2.1 mg per deciliter (186 μmol per liter) postoperatively. The patient is alive at this writing, after three years of follow-up.

David J.A. Goldsmith, F.R.C.P.
Guy's Hospital, London SE1 9RT, United Kingdom

Philip Thomas, F.R.C.S.
Royal Sussex County Hospital, Brighton BN2 5BE, United Kingdom