Clinical manifestations, diagnosis, and treatment of patients with endolymphatic sac tumor

Czech version

Authors: Lenka Murgašová ¹ ; Katarína Bubáková ¹; Maja Stříteská ¹ ; Ľudmila Verešpejová ¹ ; Zuzana Urbániová ¹ ; Kateřina Sýbová ¹ ; Klára Tvrdíková ¹ ; Petr Kujal ²; Martin Chovanec ¹
Authors‘ workplace: Otorinolaryngologická klinika 3. LF UK a FN Královské Vinohrady, Praha ¹; Ústav patologie 3. LF UK a FN Královské Vinohrady, Praha ²
Published in: Otorinolaryngol Foniatr, 74, 2025, No. 3, pp. 234-243.
Category: Case Reports
doi: https://doi.org/10.48095/ccorl2025234

Overview

Introduction: Endolymphatic sac tumor (ELST), also known as Heffner‘s tumor, is a rare, locally aggressive tumor arising from the endolymphatic sac or duct. ELST remains asymptomatic for a relatively long time. These tumors are usually diagnosed based on clinical symptoms and imaging of the temporal bone using HRCT and MRI. Optimal treatment is radical surgical removal. Materials and methods: We retrospectively evaluated a cohort of five patients who underwent surgery between 2015 and 2021 at the Department of Otorhinolaryngology, 3^rd Faculty of Medicine, Charles University and University Hospital Kralovské Vinohrady, with a histologically confirmed diagnosis of an endolymphatic sac tumor. Results: The initial symptom was hearing loss with tinnitus in three patients, rotational vertigo triggered by a loud sound in one female patient, and otalgia in one patient. Duration of symptoms from onset to diagnosis ranged from 1.6 to 19 years (mean 10.3 years). Audiometric examination confirmed hearing loss in all patients. Facial nerve palsy was reported in two patients‘ medical histories. The diagnosis was suspected in four patients based on findings from HRCT and MRI. In one female patient, the tumor was discovered during a surgical procedure performed for presumed chronic otitis media. Four tumors were treated via a transotic approach, and one via a modified translabyrinthine approach. All tumors were removed radically. Clinically and according to postoperative MRI, no recurrence of the disease was detected. Conclusion: Endolymphatic sac tumor is a rare low-grade malignancy. Its audiovestibular symptomatology may mimic Meniere’s disease. The presence of facial nerve or lower cranial nerve (IX–XII) palsies is a clear indication for imaging, which is crucial for diagnosis. Imaging findings of a destructive process in the temporal bone centered on the endolymphatic sac and posterior labyrinth on HRCT and/or MRI are highly specific for ELST. Surgical treatment is the method of choice.

Keywords:

temporal bone tumors – von Hippel-Lindau disease – endolymphatic sac – endolymphatic sac tumor

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