Middle ear cholesteatoma and facial nerve hypertrophy mimicking schwannoma in Charcot-Marie-Tooth disease: A case report.

Rationale: Charcot-Marie-Tooth (CMT) disease, a hereditary motor and sensory neuropathy, presents with progressive chronic sensory and distal motor polyneuropathy. While sensorineural hearing loss and vestibular impairment have been documented in CMT patients, concurrent middle ear cholesteatoma and persistent direction-changing positional nystagmus have not.
Patient Concerns: This study details a 22-year-old man with CMT1 exhibiting these symptoms.
Diagnoses: A 22-year-old man with CMT1 (PMP22, c.319+1G>T mutation) presented with rotatory vertigo, left-sided hearing loss, and aural fullness. Examination revealed middle ear effusion and a whitish mass behind the left tympanic membrane. Audiometry showed mixed hearing loss on the left side. Imaging indicated middle ear cholesteatoma and facial nerve hypertrophy.
Interventions: Surgical removal of the cholesteatoma revealed a dehiscent hypertrophied facial nerve.
Outcomes: Postoperative follow-up showed improved hearing and no recurrence.
Lessons: This case highlights 3 key points: facial nerve hypertrophy in CMT requiring differentiation from schwannoma, the first reported instance of middle ear cholesteatoma in a CMT patient, and vertigo due to acute otitis media complicated by serous labyrinthitis, manifesting as direction-changing positional nystagmus. These findings underscore the need for thorough diagnosis and management in such presentations. This is the first report of concomitant middle ear cholesteatoma in a CMT patient, illustrating the complexity of diagnosis and treatment.
Competing Interests: The authors have no conflicts of interest to disclose.
(Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.)