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• W2555962344 abstract "Cases presentationPatient 1A 41-year-old man was referred for management of asymptomatic renal tumours. His family was known to be affected by typical von Hippel-Lindau disease type 1 (without phaeochromocytoma), with ten affected members expressing a germline mutation that resulted in a truncated VHL protein. The man had been first diagnosed at age 22 years, when he presented with retinal detachment caused by retinal haemangioblastomas and that resulted in unilateral blindness by the age of 29years, despite treatment with cryotherapy. Haemangioblastomas were later identified in the contralateral eye but had been managed successfully by laser photocoagulation and his sight was preserved. He had also undergone surgery for a spinal haemangioblastoma at the age of 26years, and for a cerebellar one at the age of 36years. An abdominal CTscan at age 27 years showed several benign renal and pancreatic cysts, but routine visceral surveillance had not been started. 6months before the patient came to hospital, an affected cousin who had had surgery for renal tumours encouraged him to request a re-examination. The CT scan showed several 2·0–6·0cm solid and cystic tumours in both kidneys, with no option for nephron-sparing surgery (figure 1). Adrenals were normal and no metastases were apparent. Bilateral nephrectomy was done in January, 2003; pathological examination showed that 90% of the renal parenchyma was replaced by multiple high-grade renal clear-cell carcinomas. The patient remains on dialysis; transplantation will be considered if there is no sign of recurrence after 2 years.Patient 2A 24-year-old man presented with loss of visual acuity in the left eye, leading to discovery of three retinal haemangioblastomas that were treated by laser coagulation. He was then referred for management of potential von Hippel-Lindau disease. Since he described hot flushes and headaches during fluorescein angiography, urinary metanephrine excretion was measured and reported to be 100 times higher than the top of the reference range. The high reading was initially suspected to result from a technical error, but abdominal CTscan without enhancement showed a 5cm tumour in the left adrenal and a 4cm tumour in the right adrenal (figure 2). The diagnosis of bilateral pheochromocytoma was confirmed by MRI, and by meta iodobenzylguanidine scintigraphy. Abdominal MRI also showed a 1·5 cm tumour in the left kidney. There were no other clinical manifestations of von Hippel-Lindau disease, and all lesions were successfully removed. A missense mutation in exon 3, typical of von Hippel-Lindau type 2 (with pheochromocytoma), was then identified but no mutation carrier was identified among close relatives." @default.
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• W2555962344 date "2004-04-01" @default.
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• W2555962344 title "Von Hippel-Lindau disease" @default.
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• W2555962344 doi "https://doi.org/10.1016/s0140-6736(04)15957-6" @default.
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