Searchable abstracts of presentations at key conferences in endocrinology

ea0020p173 | Endocrine tumours and neoplasia | ECE2009

Von-Hippel-Lindau disease: clinical report

Santos Jacinta , Paiva Isabel , Martinho Mariana , Vieira Alexandra , Vieira Diniz , Cunha Lurdes , Martinho Fernando , Carvalheiro Manuela

Background: Von-Hippel-Lindau disease (VHL) is a rare (1/36.000 newborns), autosomal, dominant inherited tumour syndrome. A germline mutation in VHL tumour suppressor gene predisposes carriers to tumours in multiple organs. In the presence of positive family history, it can be diagnosed clinically in a patient with at least one typical VHL tumour.Clinical report: In December 2007, a 34 years-old women presented with palpitations and tachycardia, but norm...