Tumors of the endolymphatic sac in patients with von Hippel—Lindau disease: implications for their natural history, diagnosis, and treatment

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Object. Endolymphatic sac tumors (ELSTs), which often are associated with von Hippel—Lindau (VHL) disease, cause irreversible hearing loss and vestibulopathy. Clinical and imaging surveillance protocols provide new insights into the natural history, mechanisms of symptom formation, and indications for the treatment of ELSTs. To clarify the uncertainties associated with the pathophysiology and treatment of ELSTs, the authors describe a series of patients with VHL disease in whom serial examinations recorded the development of ELSTs.

Methods. Patients with VHL disease were included if serial clinical and imaging studies captured the development of ELSTs, and the patients underwent tumor resection. The patients' clinical, audiological, and imaging characteristics as well as their operative results were analyzed.

Five consecutive patients (three men and two women) with a mean age at surgery of 34.8 years and a follow-up period of 6 to 18 months were included in this study. Audiovestibular symptoms were present in three patients before a tumor was evident on neuroimaging. Imaging evidence of an intralabyrinthine hemorrhage coincided with a loss of hearing in three patients. Successful resection of the ELSTs was accomplished by performing a retrolabyrinthine posterior petrosectomy (RLPP). Hearing stabilized and vestibular symptoms resolved after surgery in all patients. No patient has experienced a recurrence.

Conclusions. Audiovestibular symptoms, including hearing loss, in patients with VHL disease can be the result of microscopic ELSTs. Once an ELST has been detected, it can be completely resected via an RLPP with preservation of hearing and amelioration of vestibular symptoms. Early detection and surgical treatment of small ELSTs, when hearing is still present, should reduce the incidence and severity of hearing loss, tinnitus, vertigo, and cranial nerve dysfunction, which are associated with these tumors.

Article Information

Address reprint requests to: Russell R. Lonser, M.D., Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 5D37, Bethesda, Maryland 20892–1414. email: lonserr@ninds.nih.gov.

© AANS, except where prohibited by US copyright law.

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    Schematics demonstrating a lateral view of the anatomical relationships of the normal left posterior petrous bone. Using an RLPP approach, excellent exposure of inner-ear structures including the horizontal, superior, and posterior semicircular canals (HSCC, SSCC, and PSCC, respectively) as well as the facial nerve, endolymphatic duct, and endolymphatic sac can be obtained. Inset: Schematic in which the axial plane is indicated by the solid black line demonstrating how the endolymphatic sac is formed by the inner and outer layers of the posterior fossa dura mater as well as the relationship of this sac to the facial nerve, sigmoid sinus, and cerebellum. Dashed lines in the inset show the extent of bone removal in the axial plane when performing the RLPP.

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    A: Schematic demonstrating the position of the patient and the incision (dashed line) used for a left-sided RLPP for resection of an ELST. B: View of the skin opening and bone exposure used for the RLPP. C: Magnified view of the bone exposure and the outline (dotted line) of the cortical mastoidectomy for the RLPP, which begins over the Macewen triangle whose borders are the external auditory meatus, the inferior temporal line, and the suprameatal line (spine of Henle) at the upper superoposterior angle of the external auditory meatus.

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    Illustrations of the microsurgical exposure of a small left-sided ELST performed using an RLPP. A: A cortical mastoidectomy is started over the Macewen triangle. B and C: The mastoidectomy is made deeper to expose the tegmen superiorly and the sigmoid sinus posteriorly. The bone canal over the vertical segment of the facial nerve is skeletonized from the external genu of the nerve near the horizontal semicircular canal superiorly to the stylomastoid foramen inferiorly. The bone canal over the posterior semicircular canal is exposed as the mastoid air cells are drilled away medially. D: The mastoid bone and air cells between the sigmoid sinus and the bone labyrinth are removed to expose the underlying posterior fossa dura mater, including the sinodural angle. The endolymphatic duct is identified inside the vestibular aqueduct. The center of the hypervascular ELST (inset) is typically encountered at the distal portion of the endolymphatic duct as it fans outward to form the endolymphatic sac between the anterior and posterior leaflets of the posterior fossa dura. E: The bone operculum, which lies medioposterior to the vestibular aqueduct, is removed (inset) further exposing the tumor and the endolymphatic duct. The location of the endolymphatic sac is identified within the posterior fossa dura at the Donaldson line (dashed line), which runs parallel to the horizontal semicircular canal and perpendicular to the posterior semicircular canal.

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    Illustrations demonstrating the microsurgical removal of a small ELST. A: Once the ELST has been identified with the involved portion of the endolymphatic duct (see Fig. 5), the lesion is removed en bloc with the involved duct. Because ELSTs commonly cause bone erosion around the endolymphatic duct, once the duct and tumor have been removed, the petrous bone and the air cells adjacent to the tumor are drilled out until normal bone is encountered. B and C: The posterior fossa dura is resected to obtain a clear margin around the tumor and the endolymphatic sac (dashed line in A) while preserving the underlying posterior fossa arachnoid layer. D: After removal of the ELST and the endolymphatic sac, the mastoid cavity is filled with abdominal fat and the wound is closed in layers.

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    Case 1. A: Preoperative axial contrast-enhanced MR image of the left posterior petrous region demonstrating a small enhancing lesion in the left endolymphatic sac (arrows), which is formed by the inner and outer leaves of the posterior fossa dura and located between the internal auditory canal (IAC) and the sigmoid sinus (SS). B: Corresponding preoperative axial nonenhanced CT scan of the left temporal bone demonstrating bone erosion in the region of the endolymphatic sac (arrow). C: Photomicrograph of excised tissue. During the resection, the endolymphatic duct (red-tan tissue) was removed en bloc and opened, revealing gross evidence of the ELST with hemorrhage (raspberry-colored lesion, arrows). Bar = 1 mm. D: Photomicrograph of tissue sample. The histological study confirmed the diagnosis of an ELST. H & E, original magnification × 20.

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    Case 4. Serial MR and CT images of the temporal region and corresponding audiograms (contemporaneously performed with the neuroimaging) demonstrating the development of a left ELST and associated hearing loss. A: Contrast-enhanced T1-weighted MR image obtained in 2000, demonstrating no evidence of an ELST despite the onset of left tinnitus. B: Audiogram obtained at that time, displaying normal findings for a slight high-frequency hearing loss. Worsening tinnitus developed and was associated with acute left-sided hearing loss and vertigo in 2002. C: Axial nonenhanced T1-weighted MR image revealing an intralabyrinthine hemorrhage (arrowhead) on the left side, but no evidence of an enhancing tumor. D: Audiogram revealing a moderate left-sided sensorineural hearing loss. In 2003, the patient experienced worsening left-sided hearing loss, while continuing to have left-sided tinnitus and vertigo. Axial T1-weighted nonenhanced (E) and contrast-enhanced (F) MR images again revealing evidence of an intralabyrinthine hemorrhage (arrowhead in E) as well as an enhancing lesion in the region of the left endolymphatic duct (arrow in F). G: Corresponding axial nonenhanced CT scan of the left temporal bone demonstrating bone erosion in the region of the left endolymphatic duct (arrowhead). H: Audiogram revealing progressive moderate-to-severe sensorineural hearing loss on the left side.

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