Endolymphatic Sac Tumor: A Rare Case

Endolymphatic sac tumor is rare, locally aggressive and non-metastasizing neoplasm arising from the endolymphatic sac of the petrous portion of the temporal bone. Most occur in adult and present with ipsilateral hearing loss. They can be sporadic or associated with Von-Hippel-Lindau disease. Patient with endolymphatic sac tumor should be screened for VHL disease. We report a case of 52-year-old female with dizziness and headache. Histopathology was consistent with typical features of endolymphatic sac tumor. This was confirmed by cytokeratin and EMA positivity and TTF-1 negativity. This case is presented for its rarity with only few cases reported.

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Endolymphatic sac tumor in von Hippel–Lindau disease: A rare case report

Journal of Pediatric Neurosciences ◽

10.4103/jpn.jpn_28_17 ◽

2017 ◽

Vol 12 (3) ◽

pp. 294 ◽

Cited By ~ 1

Author(s):

KP Haresh ◽

Rituparna Biswas ◽

Kalpana Kumari ◽

Subhash Gupta ◽

Anirban Halder ◽

...

Keyword(s):

Case Report ◽

Rare Case ◽

Endolymphatic Sac ◽

Endolymphatic Sac Tumor ◽

Von Hippel Lindau ◽

Rare Case Report ◽

Von Hippel Lindau Disease

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Endolymphatic Sac Tumor Associated with a Von Hippel-Lindau Disease Patient: An Immunohistochemical Study

Modern Pathology ◽

10.1038/modpathol.3880380 ◽

2001 ◽

Vol 14 (7) ◽

pp. 727-732 ◽

Cited By ~ 30

Author(s):

Hidehisa Horiguchi ◽

Toshiaki Sano ◽

Hiroyuki Toi ◽

Teruyoshi Kageji ◽

Mitsuyoshi Hirokawa ◽

...

Keyword(s):

Immunohistochemical Study ◽

Disease Patient ◽

Endolymphatic Sac ◽

Endolymphatic Sac Tumor ◽

Von Hippel Lindau ◽

Von Hippel Lindau Disease

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Endolymphatic sac tumor demonstrated by intralabyrinthine hemorrhage

Journal of Neurosurgery ◽

10.3171/jns-07/08/0421 ◽

2007 ◽

Vol 107 (2) ◽

pp. 421-425 ◽

Cited By ~ 14

Author(s):

Jay Jagannathan ◽

John A. Butman ◽

Russell R. Lonser ◽

Alexander O. Vortmeyer ◽

Christopher K. Zalewski ◽

...

Keyword(s):

Hearing Loss ◽

Mr Imaging ◽

Disease Status ◽

Petrous Bone ◽

Endolymphatic Sac ◽

Endolymphatic Sac Tumor ◽

Von Hippel Lindau ◽

Fluid Attenuated Inversion Recovery ◽

History Of ◽

Vhl Disease

✓ Endolymphatic sac tumors (ELSTs) are locally invasive neoplasms that arise in the posterior petrous bone and are associated with von Hippel–Lindau (VHL) disease. These tumors cause symptoms even when microscopic in size (below the threshold for detectability on imaging studies) and can lead to symptoms such as hearing loss, tinnitus, vertigo, and facial nerve dysfunction. While the mechanisms of audiovestibular dysfunction in patients harboring ELSTs are incompletely understood, they have critical implications for management. The authors present the case of a 33-year-old man with VHL disease and a 10-year history of progressive tinnitus, vertigo, and left-sided hearing loss. Serial T1-weighted magnetic resonance (MR) imaging and computed tomography scans revealed no evidence of tumor, but fluid attenuated inversion recovery (FLAIR) MR imaging sequences obtained after hearing loss demonstrated evidence of left intralabyrinthine hemorrhage. On the basis of progressive disabling audiovestibular dysfunction (tinnitus and vertigo), FLAIR imaging findings, and VHL disease status, the patient underwent surgical exploration of the posterior petrous region, and a small (2-mm) ELST was identified and completely resected. Postoperatively, the patient had improvement of the tinnitus and vertigo. Intralabyrinthine hemorrhage may be an early and the only neuroimaging sign of an ELST in patients with VHL disease and audiovestibular dysfunction. These findings support tumor-associated hemorrhage as a mechanism underlying the audiovestibular dysfunction associated with ELSTs.

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Imaging detection of endolymphatic sac tumor–associated hydrops

Journal of Neurosurgery ◽

10.3171/2013.2.jns12608 ◽

2013 ◽

Vol 119 (2) ◽

pp. 406-411 ◽

Cited By ~ 9

Author(s):

John A. Butman ◽

Edjah Nduom ◽

H. Jeffrey Kim ◽

Russell R. Lonser

Keyword(s):

Hearing Loss ◽

Endolymphatic Hydrops ◽

Clinical Findings ◽

Endolymphatic Sac ◽

Membranous Labyrinth ◽

Endolymphatic Sac Tumor ◽

Von Hippel Lindau ◽

Episodic Vertigo ◽

Contrast Enhanced ◽

Vhl Disease

Object To determine if physiologically based MRI sequences can be used to detect endolymphatic sac tumor (ELST)–associated hydrops, the authors performed contrast-enhanced delayed FLAIR imaging in consecutive ELST patients with clinical findings consistent with hydrops. Methods Consecutive patients with von Hippel-Lindau (VHL) disease and clinical findings of endolymphatic hydrops and ELSTs underwent contrast-enhanced delayed FLAIR MRI. Clinical, audiological, operative, and imaging findings were analyzed. Results Three patients (2 male, 1 female) with 4 ELSTs (1 patient had bilateral ELSTs) were identified who had clinical findings consistent with endolymphatic hydrops. Computed tomography and MRI evidence of an ELST was found in all patients. Their mean age at initial evaluation was 39.7 years (range 28–51 years). All patients demonstrated progressive sensorineural hearing loss that was associated with episodic vertigo and tinnitus. Contrast-enhanced delayed FLAIR MRI clearly demonstrated dilation of the membranous labyrinth consistent with hydrops in the affected ears but not the unaffected ears. Two patients underwent resection of the associated ELST that resulted in stabilization of progressive hearing loss, as well as amelioration of tinnitus and vertigo. Conclusions Contrast-enhanced delayed FLAIR MRI can be used to detect ELST-associated hydrops. Noninvasive MRI detection of hydrops can permit earlier detection of ELSTs in patients with VHL disease and provides direct insight into a mechanism that underlies ELST-associated audiovestibular morbidity.

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Endolymphatic Sac Tumor Screening and Diagnosis in von Hippel-Lindau Disease: A Consensus Statement

Journal of Neurological Surgery Part B Skull Base ◽

10.1055/s-0041-1725033 ◽

2021 ◽

Author(s):

Gautam U. Mehta ◽

H. Jeffery Kim ◽

Paul W. Gidley ◽

Anthony B. Daniels ◽

Mia E. Miller ◽

...

Keyword(s):

Hearing Loss ◽

Clinical Evaluation ◽

Evaluation Framework ◽

Screening Tools ◽

Endolymphatic Sac ◽

Expert Committee ◽

Specific Test ◽

Endolymphatic Sac Tumor ◽

Von Hippel Lindau ◽

Von Hippel Lindau Disease

Abstract Objective Endolymphatic sac tumors (ELSTs) are a frequent cause of hearing loss and other audiovestibular dysfunction in patients with von Hippel-Lindau disease (VHL). Unified screening recommendations for VHL patients have not been established. To develop consensus guidelines, the VHL Alliance formed an expert committee to define evidence-based clinical screening recommendations. Patients and Methods Recommendations were formulated by using the Grading of Recommendations, Assessment, Development, and Evaluation framework after a comprehensive literature review. Results Diagnosis of ELSTs in VHL requires a combination of clinical evaluation and imaging and audiometric findings. Audiovestibular signs/symptoms are often an early feature of small ELSTs, including those that are not visible on imaging. Diagnostic audiograms have the greatest sensitivity for the detection of ELST-associated sensorineural hearing loss and can help confirm clinically relevant lesions, including those that may not be radiographically evident. Magnetic resonance imaging (MRI) can be a more specific test for ELSTs in VHL particularly when supplemented with computed tomography imaging for the identification of small tumors. VHL patients between the ages 10 and 60 years carry high preponderance for ELST presentation. Conclusion We recommend that clinical evaluation (yearly) and diagnostic audiograms (every other year) be the primary screening tools for ELSTs in VHL. We suggest that screening be performed between the ages 11 and 65 years or with the onset of audiovestibular signs/symptoms for synchronicity with other testing regimens in VHL. We recommend that baseline imaging (MRI of the internal auditory canals) can be performed between the ages of 15 and 20 years or after positive screening.

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