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

ABSTRACT:

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 ch

SUBMITTER: Jang M 

PROVIDER: S-EPMC11557088 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature