May 14, 1997

Endolymphatic Sac TumorsA Source of Morbid Hearing Loss in von Hippel-Lindau Disease

Author Affiliations

From the Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health (Drs Manski and Oldfield); Department of Neurosurgery, National Naval Medical Center (Dr Manski); Department of Otolaryngic Pathology, Armed Forces Institute of Pathology (Dr Heffner); Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute (Dr Glenn); Department of Radiology, Henry M. Jackson Foundation, Warren Grant Magnuson Clinical Center, National Institutes of Health (Drs Patronas and Choyke); Neuro-otology Branch, National Institute on Deafness and Other Communication Disorders (Mss Pikus and Sledjeski); Office of the Clini-; cal Director, National Institute of Neurological Disorders and Stroke, and Laboratory of Pathology, National Cancer Institute (Dr Katz); National Institute on Deafness and Other Communication Disorders (Dr Lebovics); Laboratory of Immunobiology, Division of Cancer Biology, Diagnosis, and Centers, Frederick Cancer Research Facility, National Cancer Institute (Dr Zbar); and the Urologic Oncology Branch, Clinical Oncology Program, Division of Cancer Therapy, National Cancer Institute, National Institutes of Health (Dr Linehan), Bethesda, Md.

JAMA. 1997;277(18):1461-1466. doi:10.1001/jama.1997.03540420057030

Objectives.  —Isolated reports suggest a possible association of endolymphatic sac tumors (ELSTs), which are extremely rare in the general population, with von Hippel-Lindau disease (VHL). To determine if hearing loss and ELSTs are a component of VHL, we examined prevalence, clinical presentation, and natural history of hearing loss and ELSTs in VHL.

Design.  —Brain magnetic resonance images (MRIs) from 374 patients screened for VHL were reviewed for evidence of ELSTs. The VHL patients with MRI evidence suggestive of ELSTs or a history of hearing loss, tinnitus, or vertigo underwent additional radiologic and audiologic evaluations. To further assess prevalence of hearing loss and ELST in VHL, the next 66 patients screened in the VHL clinic (49 with proven VHL, 17 at risk for VHL) received MRI and audiologic assessment.

Setting.  —Referral center.

Participants.  —Study subjects comprised 374 persons screened for VHL, 66 consecutive patients with VHL or at risk for VHL, 4 patients with 6 ELSTs, and 13 previously reported patients with VHL and invasive tumors of the temporal bone.

Intervention.  —Magnetic resonance image and computed tomographic (CT) scan of the posterior fossa and audiologic assessment.

Main Outcome Measures.  —Any ELST visible on MRI or CT and hearing loss compatible with ELST.

Results.  —Magnetic resonance imaging revealed evidence of 15 ELSTs in 13 (11%) of 121 patients with VHL, but in none of the 253 patients without evidence of VHL (P<.001). Clinical findings in these 13 patients included hearing loss (13), tinnitus (12), vertigo (8), and facial paresis (1). Mean age at onset of hearing loss was 22 years (range, 12-50 years). Hearing for pure tones was abnormal in all affected ears and in 6 of the 11 additional, allegedly unaffected ears. In 8 patients (62%), hearing loss was the first manifestation of VHL. Presence or absence of hearing loss was associated with duration of symptoms (P<.002) and with tumor size (P<.01). Further, 43 (65%) of the 66 patients from the VHL clinic had pure tone threshold abnormalities, abnormalities that occurred bilaterally in 23 (54%) of the 43 affected subjects; however, evidence is lacking for a definitive association with ELST (3 [6%] of 49 patients with proven VHL had ELST evident on MRI).

Conclusions.  —Hearing loss and ELSTs are frequently associated with VHL syndrome and should be considered when screening individuals at risk for VHL and when monitoring patients with an established diagnosis of VHL. Many patients with VHL have hearing loss without radiographic evidence of an ELST. Whether it is caused by an ELST that is too small to be detected by MRI or is produced by some other etiology is still unknown. Audiologic evaluation and MRI should allow early detection and enhance management of hearing loss in these patients.