Delayed Presentation of a Congenital Cholesteatoma in a 64-year-old Man: Case Report and Review of the Literature

Abstract

Introduction Congenital cholesteatomas of the temporal bone are epidermoid cysts of embryologic origin that result in progressive desquamation and trapping of squamous epithelium behind an intact tympanic membrane. They are benign, slowly progressive lesions that can be found in various areas of the temporal bone. We report a case of a patient with a massive cholesteatoma first detected at the age of 64 years, causing significant destruction of the mastoid and petrous temporal bones, and adjacent occipital bone. Methods We reviewed the literature and a case report of a patient seen in our institution recently. The Medline database was used to search multiple terms including “congenital” and “cholesteatoma.” Results The patient's congenital cholesteatoma was detected incidentally on a computed tomography scan when the patient's only symptoms were unilateral conductive hearing loss with a family history of hearing loss. It was subsequently successfully operated on with minimal postoperative complications. Conclusions Congenital cholesteatomas of mastoid origin can often exist for many years in a subclinical state and develop into a massive size before causing symptoms. A high index of suspicion is necessary to detect congenital cholesteatomas in patients with unilateral conductive hearing loss who are otherwise asymptomatic and have a normal tympanic membrane.

A giant cholesteatoma of the mastoid extending into the foramen magnum: A case report and review of literature

“…Cholesteatomas or epidermoid cysts originate from progressive desquamation of the epithelium. 1 , 2 , 4 , 5 , 7 They are classified into congenital or acquired base on their pathogenesis. 1 , 4 , 5 In our case, it was very difficult to arrive at a definitive conclusion on whether the lesion is congenital or acquired but we believe it has a congenital origin.…”

“…13 Congenital cholesteatomas in the middle ear frequently present with cunning hearing loss during childhood years and are usually found incidentally behind the tympanic membrane during routine otoscopy. 2 , 14 Nevertheless, congenital cholesteatomas may be absolutely asymptomatic, particularly when their origin is from the mastoid where the diagnosis occurs only as an incidental finding on imaging hence the diagnosis is often belated until mid to late adulthood because of the asymptomatic nature of the disease. 2 , 14 In such cases, the most common symptoms are dizziness, pain, or swelling that may be localized to the temporal area of the head or to the neck.…”

“… 2 , 14 In such cases, the most common symptoms are dizziness, pain, or swelling that may be localized to the temporal area of the head or to the neck. 2 , 14 …”

“…The use of common imaging modalities such as high-resolution CT scan and MRI are important to detect and also define the extent of the lesion, which is fundamental for planning surgical intervention. 2 , 3 , 14 , 17 CT scans usually confirm the existence and offer a suggestion on the size and magnitude of the lesion, and MRI differentiates cholesteatomas from other soft tissue masses like neuromas, schwannomas, or metastases while DWI also further differentiate cholesteatomas from other cystic masses. 2 , 3 , 14 Typical sequences used in the diagnosis of cholesteatoma are T1-weighted, T2-weighted sequences.…”

“… 2 , 3 , 14 , 17 CT scans usually confirm the existence and offer a suggestion on the size and magnitude of the lesion, and MRI differentiates cholesteatomas from other soft tissue masses like neuromas, schwannomas, or metastases while DWI also further differentiate cholesteatomas from other cystic masses. 2 , 3 , 14 Typical sequences used in the diagnosis of cholesteatoma are T1-weighted, T2-weighted sequences. Cholesteatoma have a signal close to the cerebellum, that is hypo-intense signal on T1, moderate hyperintense signal on T2, round or oval form, can be edging by a hyper-intense signal in T2 phase.…”