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

Introduction: Endolymphatic sac tumor (ELST), also known as Heff ner‘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 dia gnosed 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 fi ve patients who underwent surgery between 2015 and 2021 at the Department of Otorhinolaryngology, 3rd Faculty of Medicine, Charles University and University Hospital Kralovské Vinohrady, with a histologically confi rmed dia gnosis 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 dia gnosis ranged from 1.6 to 19 years (mean 10.3 years). Audiometric examination confi rmed hearing loss in all patients. Facial nerve palsy was reported in two patients‘ medical histories. The dia gnosis was suspected in four patients based on fi ndings 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 dis ease was detected. Conclusion: Endolymphatic sac tumor is a rare low-grade malignancy. Its audiovestibular symptomatology may mimic Meniere’s dis ease. The presence of facial nerve or lower cranial nerve (IX– XII) palsies is a clear indication for imaging, which is crucial for dia gnosis. Imaging fi ndings of a destructive process in the temporal bone centered on the endolymphatic sac and posterior labyrinth on HRCT and/ or MRI are highly specifi c for ELST. Surgical treatment is the method of choice. Key words endolymphatic sac – endolymphatic sac tumor – temporal bone tumors – von Hippel-Lindau dis ease