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  • Title: Von Hippel-Lindau disease: analysis of two families.
    Author: Bilge T, Ozveren F, Senol S, Bilge S, Barut S, Karakaslar O, Aydin Y.
    Journal: Neurochirurgia (Stuttg); 1992 Nov; 35(6):204-6. PubMed ID: 1494415.
    Abstract:
    In this report we present two families with von Hippel-Lindau syndrome. We operated on haemangioblastomas in two members, one from each, in our clinic. In the first family we saw 17 lesions in 9 members. Although in the first family carcinoma of the kidney was often observed, in the second family retinal haemangioma was found to be predominant, namely, in eight out of nine patients. In both families there were 11 patients with retinal haemangioma; of these, 9 patients were blind (82%). In 6 patients with retinal haemangioblastoma blindness was unilateral and bilateral only in one. All the patients with renal carcinoma were male and died young. In one of our patients with renal carcinoma we found metastatic lesions in the distal and proximal parts of the femur, vertebral arch, cranium and the thoracic wall. In these two families 23 members had 32 lesions, from which eleven were retinal haemangiomas (3 + 8), nine haemangioblastomas of CNS (5 + 4), one a renal cyst (0 + 1), eight renal carcinomas (7 + 1), two pancreatic cysts (1 + 1) and one liver cyst (0 + 1).
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