Importância do exame oftalmológico na doença de von Hippel-Lindau

• Autor(a) principal: Aragão, Ricardo Evangelista Marrocos de
• Data de Publicação: 2009
• Outros Autores: Barreira, Iêda Maria Alexandre [UNIFESP], Bezerra, Andreya Ferreira Rodrigues, Ramos, Régia Maria Gondim, Pereira, Felipe Bezerra Alves
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Repositório Institucional da UNIFESP
• Texto Completo: http://dx.doi.org/10.1590/S0034-72802009000400010; http://repositorio.unifesp.br/handle/11600/5138
• topic: von Hippel-Lindau disease; Hemangioblastoma; Hamartoma; Pheochromocytoma; Intracranial hypertension; Case reports; Doença de von Hippel-Lindau; Hemangioblastoma; Hamartoma; Feocromocitoma; Hipertensão intracraniana; Relatos de casos

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.