Palpable breast mass in a lactating woman

Abstract

A complicated case of von Hippel-Lindau diseaseQ1: What family history should be explored in a 17 year old girl with multiple cerebellar haemangioblastomas and why? The development of haemangioblastoma within the central nervous system is a common first manifestation of von Hippel-Lindau disease, which is inherited in an autosomal dominant fashion.1 A careful family history would be expected to reveal similar features of the condition within first/second degree relatives, unless the presenting case represents a sporadic mutation. In this case, there was no such history and subsequent genetic analysis confirmed the diagnosis by revealing a 796C→T nonsense mutation in exon 3 of the von Hippel-Lindau gene.