SciELO - Scientific Electronic Library Online

vol.53 issue4HTLV-I Associated uveitis, myelopathy, rheumatoid arthritis and Sjögren's syndromeBrown-Vialetto-van Laere syndrome: report of two cases author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand




Related links


Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Arq. Neuro-Psiquiatr. vol.53 no.4 São Paulo Dec. 1995 

Von hippel-lindaus disease. Report of three cases and review of the literature


Doença de von Hippel-Lindau: relato de três casos e revisão da literatura



Luiz F. Bleggi-TorresI, II; Lúcia de NoranhaI; J. Fillus NetoII; José E. Queiroz TellesII; Luiz E. MadalozzoIII

IHospital de Clínicas. Federal University of Paraná, Curitiba, Brazil; Section of Neuropathology and Electron Microscopy
IIHospital de Clínicas. Federal University of Paraná, Curitiba, Brazil; Departments of Pathology
IIIHospital de Clínicas. Federal University of Paraná, Curitiba, Brazil; Neurosurgery




The authors present the autopsy findings of two related patients and the biopsy findings of a thrid member of the family. The oldest member was 34 years old at death and on postmortem examination he had haemangioblastomas in the retina, cerebellum, medulla and spinal cord. Other findings were renal cell carcinoma, phaechromocytoma, cysts of kidney and pancreas, hydromyelia and atypical meningiomas. His brother died when 30 years old. The autopsy revealed haemangioblastomas of cerebellum, renal cell carcinoma and a clear cell cystadenoma of epididymus. The third patient was the daughter of the first and presented with headache and dizziness. CT-scan showed a cerebellar haemangioblastoma. Epidemiological considerations on the commonest visceral and CNS lesions and a review of current diagnostic criteria are discussed.

Key words:von Hippel-Lindau's disease, angiomatosis, phakomatosis.


Os autores relatam os achados de autópsia de dois pacientes de uma mesma família e o diagnóstico por biópsia de hemangioblastoma de um terceiro membro desta mesma família. O primeiro paciente tinha 34 anos por ocasião do óbito e os achados de necrópsia mostraram hemangioblastoma de retina, cerebelo, bulbo e medula espinhal, além de carcinoma renal, feocromocitoma, lesões císticas de rim e pâncreas, hidromielia e meningiomas atípicos. Seu irmão morreu com 30 anos de idade e a autópsia revelou hemangioblastomas de cerebelo, carcinoma renal e cistoadenoma de células claras de epididimo. A terceira paciente era filha do primeiro paciente e apresentou cefaléia e ataxia. A tomografia computadorizada mostrou lesão cerebelar cística e a biópsia confirmou tratar-se de hemangioblastoma. São feitas considerações epidemiológicas sobre lesões viscerais e do sistema nervoso mais comumente encontradas, além de discutir critérios diagnósticos.

Palavras-chave:doença de von Hippel-Lindau, angiomatose, facomatose.



Texto completo disponível apenas em PDF.

Full text available only in PDF format.




1.  Böker DK, Wassmann H, Solymosi L. Multiple spinal hemangioblastomas in a case of Lindau's disease. Surg Neurol 1984, 22:439-443.         [ Links ]

2.  Choyke PL, Filling-Katz MR, Shawker TH et al. Von Hippel-Lindau disease: radiologic screening for visceral manifestations. Radiology 1990, 174: 815-820.         [ Links ]

3.  Choyke PL, Glenn GM, Walther MCM et al. The natural history of renal lesions in von Hippel-Lindau disease: a serial CT study in 28 patients. Am J Roentgenol 1992, 159:1229-1234.         [ Links ]

4.  Connor JM. Von Hippel-Lindau disease. Q J Med 1990, 183:1099-1100.         [ Links ]

5.  de Souza Andrade J, Bambirra EA, Bicalho OJ et al. Bilateral papillary cystadenoma of the epididymis as a component of von Hipel-Lindau's syndrome: report of a case presenting as infertility. J Urol 1985,133:288-289.         [ Links ]

6.  Enomoto H, Shibata T, Ito A et al. Multiple hemangioblastoma accompanied by synringomyelia in the cerebellum and spinal cord. Surg Neurol 1984, 22:197-203.         [ Links ]

7.  Filling-Katz MR, Choyke PL, Oldfield E et al. Central nervous system involvement in von Hippel-Lindau disease. Neurology 1991, 41:41-46.         [ Links ]

8.  Gaffey MJ, Mills SE, Boyd JC. Agressive papillary tumor of middle ear/temporal bone and adnexal papillary cystadenoma: manifestations of von Hippel-Lindau disease. An J Surg Pathol 1994, 18:1254-1260.         [ Links ]

9.  Goodman MD, Goodman BK, Lubin MB et al. Cytogenetic characterization of renal cell carcinoma in von Hippel-Lindau syndrome. Cancer 1990, 65:1150-1154.         [ Links ]

10.  Green JS, Bowmer MI, Johnson GJ. Von Hippel-Lindau disease in a Newfoundland kindred. Can Med Assoc J 1986, 134:133-138.         [ Links ]

11.  Horton JC, Harsh GR, Fisher JM et al. Von Hippel-Lindau disease and erythrocytosis: radioimmunoassay of erythropoietin in cyst fluid from a brainstem hemangioblastoma. Neurology 1991, 41: 753-754.         [ Links ]

12.  Horton WA, Wong V, Eldridge R. Von Hippel-Lindau disease: clinical and pathological manifestations in nine families with 50 affected members. Arch Interm Med 1976, 136:769-777.         [ Links ]

13.  Ismail SM, Jasani D, Cole G. Histogenesis of haemangioblastomas: an immunocytochemical and ultrastructural study in a case of von Hippel-Lindau syndrome. J Clin Pathol 1985, 38:417-421.         [ Links ]

14.  Jefferys R. Clinical and surgical aspects of posterior fossa haemangioblastomas. J Neurol Neurosurg Psychiatry 1975, 38:105-111.         [ Links ]

15.  Jennings AM, Smith C, Cole DR et al. Von Hippel-Lindau disease in a large British family: clinico pathological features and recommendations for screening follow-up. Q J Med 1988 , 251:233-249.         [ Links ]

16.  Keeler LL, Klauber GT. Von Hippel-Lindau disease and renal cell carcinoma in a 16 year old boy. J Urol 1992, 147:1588-1591        [ Links ]

17.  Kounis MG, Karapanou E, Dimopoulos P et al. The von Hippel-Lindau syndrome: report of a case and review of the literature. Br J Clin Pract 1989, 43:37-41.         [ Links ]

18.  Lamiell JM, Salazar FG, Hsia YE. Von Hippel-Lindau disease affecting 43 members of a single kindred. Medicine 1989, 68:1-29.         [ Links ]

19.  Maher ER, Yates JRW, Harries R et al. Clinical features and natural history of von Hippel-Lindau disease. Q J Med 1990, 283:1151-1163.         [ Links ]

20.  Melmon KL, Rosen SW. Lindau's disease. Am J Med 1964, 36:595-617.         [ Links ]

21.  Mottow-Lippa L, Tso MOM, Peyman GA et al. Von Hippel angiomatosis: a light, electron microscopic and immunoperoxidase characterization. Ophtalmology 1983, 90:848-855.         [ Links ]

22.  Neumann HPH, Dinkel E, Brambs H et al. Pancreatic lesions in the von Hippel-Lindau syndrome. Gastroenterology 1991, 101:465-471.         [ Links ]

23.  Neumann HPH, Eggert HR, Scheremet R et al. Central nervous system lesions in von Hippel-Lindau syndrome. J Neurol Neurosurg Psychiatry 1992, 55:898-901.         [ Links ]

24.  Neumann HPH, Eggeert HR, Weigel K et al. Hemangioblastomas of the central nervous system. J Neurosurg 1989, 70:24-29.         [ Links ]

25.  Neumann HPH, Wiestler OD. Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus. Lancet 1991, 337:1052-1054.         [ Links ]

26.  Tory K, Brauch H, Linehan M et al. Specific genetic change in tumours associated with von Hippel-Lindau disease. J Natl Cancer Inst 1989, 81:1097-1101.         [ Links ]

27.  Wing GL, Weiter JJ, Kelly PJ et al. Von Hippel-Lindau disease: angiomatosis of the retina and central nervous system. Ophthalmology 1981, 88:1311-1314.         [ Links ]



Aceite: 8-junho-1995.



Luiz F. Bleggi Torres, MD, PhD - Section of Neuropathology and Electron Microscopy, Hospital de Clínicas, Rua General Carneiro 181 - 80060-900 Curitiba PR - Brazil.

Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License