Congenital Cholesteatoma Presenting as an Isolated Conductive Hearing Loss: A Diagnostic Dilemma

Abstract

Congenital cholesteatoma is a rare pediatric condition characterized by the presence of keratinizing squamous epithelium within the middle ear behind an intact tympanic membrane, without a history of otorrhea, tympanic membrane perforation, or previous ear surgery. It is a rare disease with an incidence of 3 to 6 per 100,000 persons; congenital cholesteatoma accounts for 4% to 24% of the cholesteatomas in children and 2% to 5% of all cholesteatomas. The mean age at presentation is 5 to 7 years.(1)It is more commonly seen in children and may present with conductive hearing loss or may be detected incidentally during otoscopic examination. The exact pathogenesis remains uncertain, although persistence of embryonic epithelial remnants within the developing middle ear has been proposed as an important mechanism. We present a case of congenital cholesteatoma in a 13-year-old female with a history of decreased hearing for 2 years.Examination revealed an intact tympanic membrane, while exploratory tympanotomy revealingcholesteatoma sac in the middle ear. Modified Radical Mastoidectomy was subsequently performed. The case highlights the importance of clinical examination, radiological evaluation, and surgical assesment in the diagnosis and management of congenital cholesteatoma. Although initially limited in extent, the lesion can progressively involve the ossicular chain and surrounding temporal bone structures if left untreated.