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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

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

https://doi.org/10.1590/S0004-282X1995000500012 

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

 

 


SUMMARY

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.


RESUMO

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.


 

 

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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.

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