TY - JOUR
T1 - von Hippel-Lindau disease
T2 - deafness due to a non-MRI-visible endolymphatic sac tumor despite targeted screening
AU - Binderup, Marie Louise Mølgaard
AU - Gimsing, Steen
AU - Kosteljanetz, Michael
AU - Thomsen, Carsten
AU - Bisgaard, Søs Marie Luise
PY - 2013/11
Y1 - 2013/11
N2 - 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.
AB - 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.
U2 - 10.3109/14992027.2013.824117
DO - 10.3109/14992027.2013.824117
M3 - Journal article
C2 - 24003980
SN - 1499-2027
VL - 52
SP - 771
EP - 775
JO - International Journal of Audiology
JF - International Journal of Audiology
IS - 11
ER -