ABSTRACT
Von Hippel Lindau disease is a hereditary syndrome characterized by the appearance of benign and malignant tumors in different organs. Its incidence is 1 case per 36000 born alive. We report a family with the disease. The index case was a male with a bilateral pheochromocytoma and cerebelar and retinal hemagioblastomas that had a sudden death due to a cerebrovascular accident at the age of 52 years. One sibling had central nervous system and retinal hemangioblastomas and other was operated for an unilateral pheochromocytoma. Both siblings had the R167Q VHL mutation of the syndrome. Other family members did not have the mutation.
Subject(s)
Humans , Male , Female , Adolescent , Adult , von Hippel-Lindau Disease/diagnosis , von Hippel-Lindau Disease/genetics , von Hippel-Lindau Disease/complications , Pheochromocytoma/genetics , Genetic Predisposition to Disease , Hemangioblastoma/genetics , Mutation , Cerebellar Neoplasms/genetics , Retinal Neoplasms/genetics , Adrenal Gland Neoplasms/genetics , Pedigree , Von Hippel-Lindau Tumor Suppressor ProteinABSTRACT
O objetivo dessa apresentação é a discussão do caso de uma paciente com a Síndrome de von Hippel-Lindau, sob os seus diferentes aspectos clínicos, laboratoriais, radiológicos e terapêuticos. A seguir será apresentado o estudo genético realizado na paciente e serão discutidas a principais alterações gênicas envolvidas no aparecimento dessa síndrome clínica.