Unilateral Papillary Cystadenoma of the Epididymis as a First Presentation of Von Hippel-Lindau Disease

Association between papillary cystadenoma of the epididymis (PCE) and Von Hippel-Lindau Disease (VHLD) is well known and stronger for bilateral tumours. Unilateral PCE occurs either as a sporadic tumor without evidence of VHLD or in the context of a known diagnosis of VHLD, indeed it has never been reported as the first manifestation of VHLD. In contrast we report the case of a boy with an apparently isolated, unilateral PCE, that resulted to be the first manifestation of an unknown VHLD. Thus we recommend screening for VHLD in patients with a new diagnosis of unilateral PCE, especially if young.