Importância do exame oftalmológico na doença de von Hippel-Lindau
Von Hippel-Lindau (VHL) disease is an autossomical, dominant inherited tumour syndrom. These tumours may include haemangioblastoma in the retina and central nervous system (CNS), renal cell carcinoma, phaeochromocytoma, islet cell tumours of the pancreas, cystadenoma in the kidney, pancreas, and epi...
| Authors: | , , , , |
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| Format: | article |
| Status: | Published version |
| Publication Date: | 2009 |
| Country: | Brasil |
| Institution: | Universidade Federal de São Paulo (UNIFESP) |
| Repository: | Repositório Institucional da UNIFESP |
| Language: | Portuguese |
| OAI Identifier: | oai:repositorio.unifesp.br:11600/5138 |
| Online Access: | http://dx.doi.org/10.1590/S0034-72802009000400010 http://repositorio.unifesp.br/handle/11600/5138 |
| Access Level: | Open access |
| Keyword: | von Hippel-Lindau disease Hemangioblastoma Hamartoma Pheochromocytoma Intracranial hypertension Case reports Doença de von Hippel-Lindau Feocromocitoma Hipertensão intracraniana Relatos de casos |
| Summary: | Von Hippel-Lindau (VHL) disease is an autossomical, dominant inherited tumour syndrom. These tumours may include haemangioblastoma in the retina and central nervous system (CNS), renal cell carcinoma, phaeochromocytoma, islet cell tumours of the pancreas, cystadenoma in the kidney, pancreas, and epididymis. The most common symptoms include: loss of vision, raised intracranial pressure, neurological deficits, paroxysmal raised blood pressure and local pain. We report herein a 29-year-old man with visual loss and cerebellar haemangioblastoma that despite neurological manifestations the diagnosis of VHL was established after the ophthalmological examanination. |
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