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

Abstract

Objective: 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. Design: For a period of 17 years our patient was screened for ELSTs with inner-ear MRI (magnetic resonance imaging), audiometry, and clinical interviews. Study sample: A male vHL patient who became deaf in one ear due to a radiologically undetectable ELST. Results: 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. Conclusions: 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.

Key Words::

• Endolymphatic sac tumors
• magnetic resonance imaging
• surveillance
• von Hippel-Lindau disease

Acknowledgements

We especially thank the participating patient, as well as our financial supporters. We also thank the doctors involved in the diagnostic testing and treatment of this patient, especially consultant Lars Poulsgaard, Department of Neurosurgery, Rigshospitalet and consultant Mads Klokker, Department of Audiology, Rigshospitalet. We are grateful to Laurids Thalund Binderup for help with the graphical work and to Rhonwyn Bisgaard for language assistance.

Declaration of interest: The authors report no declarations of interest. The financial sponsors of the study were: The Danish Cancer Society, King Christian the 10th Foundation, Frode V. Nyegaard and wife's Foundation, Consul General Friedrich Bøhm and daughter Else Bøhm's Foundation, Minister Erna Hamilton's Grant for Science and Art, and the Harboe Foundation, and the Michaelsen Foundation. The study sponsors solely provided financial support for the study and had no role in the study design, the collection, analysis, and interpretation of data, the writing of the report or in the decision to submit the report for publication.