Recurrent Facial Paralysis Secondary to Congenital Cholesteatoma

Background Congenital cholesteatomas are stratified squamous epithelial lined cysts filled with keratin debris whose pathophysiology is controversial. This pathology most commonly presents as an incidentally found white retrotympanic middle ear mass on otoscopy. Most congenital cholesteatomas originate in the middle ear and spread in a posterior direction. Here, we describe an atypical clinical presentation of a congenital cholesteatoma with a literature review.

Case Report An otherwise healthy 18-year-old man presented to clinic with left pulsatile tinnitus, left hearing loss, and recurrent left facial weakness. He had no history of ear infections. When he was 14 years old, he had complete left facial weakness which completely recovered over the next 7 months. Then, 2 months prior to presentation, he had a return of left facial weakness which was House–Brackmann’s grade II with synkinesis. An audiogram revealed a moderate left conductive hearing loss, and he had a type B tympanogram. Microscopic otoscopy was normal. Computed tomography scan showed soft tissue expansion and bony remodeling along the labyrinthine, geniculate, and proximal tympanic portions of the facial nerve. Magnetic resonance imaging showed a lesion in the same area which was low to intermediate intensity on T1 with faint enhancement and hyperintense on T2.

Since the pathology was unknown, the plan was to start with a transmastoid approach to identify the pathology and then resect the lesion using either a middle cranial fossa or translabyrinthine approach. After a mastoidectomy was performed, visual inspection clearly indicated that it was a cholesteatoma. It encased the facial nerve from the tympanic segment to the internal auditory canal, invaded the labyrinth, eroded the stapes superstructure, and involved the petrous apex. A translabyrinthine approach with an anterior petrosectomy was performed, and the cholesteatoma was completely removed with care to preserve the facial nerve. One month postoperatively, he had left facial weakness to the same degree as before surgery.

Discussion This case is an uncommon clinical presentation for an already rare pathology. Preoperatively, the differential diagnosis included facial schwannoma, facial nerve hemangioma, lymphoma, rhabdomyosarcoma, in addition to congenital cholesteatoma. The lesion went undiagnosed for 4 years following his initial facial paralysis. With a higher index of suspicion by treating physicians during his initial facial paralysis, it is possible that his hearing may have been able to be preserved in that ear. This case highlights the need for imaging when patients have atypical or recurrent facial weakness. Facial function was successfully preserved in this patient, but he will need to be monitored closely for recurrence.