von Hippel-Lindau disease: deafness due to a non-MRI-visible endolymphatic sac tumor despite targeted screening.

[von hippel-lindau disease]

Endolymphatic sac tumours (ELSTs ) of the inner ear occur in 16 % of patients with the hereditary tumor syndrome von Hippel-Lindau disease (vHL ). ELSTs of all sizes can cause irreversible hearing loss which can , however , be prevented through early diagnosis and treatment . We aim to emphasize the challenges of prophylactic ELST screening and to explore the role of audiometry in pre-symptomatic ELST screening .F or a period of 17 years our patient was screened for ELSTs with inner-ear MRI (magnetic resonance imaging ), audiometry , and clinical interviews .A male vHL patient who became deaf in one ear due to a radiologically undetectable ELST .Despite annual MRIs , the ELST was not visible until four months after onset of deafness when it appeared as a 1 .4 × 1 .4 mm tumor mass . Although his hearing was objectively within normal limits for the first 14 years , a distinct pattern of low-frequency hearing loss could retrospectively be seen at all audiometries .Audiometry is a candidate screening tool for detection of non-symptomatic pre-MRI-visible ELSTs , and we have initiated an international collaborative study to further determine its application . At present , we suggest an ELST screening protocol of yearly audiological assessment and inner ear MRI .