Keywords
Von Hippel-Lindau disease
Differential diagnosis
Radiology
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Abstract
Objective: To report a case of endolymphatic sac tumor, describing the main clinical, radiological, and anatomopathological findings, the multidisciplinary therapeutic strategies employed, and the clinical outcome. Case details: A 42-year-old woman presented with hearing loss and vertigo for 12 months, progressing to peripheral facial paralysis and aphasia. Computed tomography showed aggressive lytic destruction of the petrous apex and mastoid, while magnetic resonance imaging demonstrated the classic “salt and pepper” pattern and an incidental carotid aneurysm. After subtotal surgical resection, the diagnosis was confirmed by immunohistochemistry, showing positivity for CAM 5.2, GFAP, and EMA. Given the voluminous residual lesion and invasion of neurovascular structures, radiotherapy (70 Gy) was instituted. Follow-up in 2025 showed sustained volumetric reduction of the lesion, stability of the aneurysm, and satisfactory functional recovery through multidisciplinary rehabilitation, with a subsequent increase in lesion size in following exams. Final considerations: The study highlighted that the diagnosis of endolymphatic sac tumor depends on the integration of clinical, anatomopathological, immunohistochemical, and radiological evaluation, with imaging playing a central role in differentiating mimics and guiding therapy. Combined treatment and a multidisciplinary approach enabled disease control and functional preservation.
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