A Recurrent Variant in POLR1B, c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4

Treacher Collins syndrome (TCS) is a heterogenous malformation syndrome characterized by a distinct facial appearance including downslanting palpebral fissures, malar hypoplasia, conductive hearing loss, and mandibular hypoplasia. Recently, a new causative gene, <i>POLR1B</i>, encoding DNA-directed RNA polymerase I subunit RPA2, was identified as a fourth type of TCS (TCS4). We describe another patient with TCS4 caused by a recurrent <i>POLR1B</i> variant, c.3007C&#x3e;T; p.Arg1003Cys. Including our patient, all 4 patients with p.(Arg1003Cys) had atresia of the external auditory canal and microtia. All of the reported pathogenic variants in <i>POLR1B</i> were clustered at only 2 residues. Our patient highlights the genotype-phenotype correlation in TCS4 associated with <i>POLR1B</i>.

Congenital Cholesteatoma in A Case of Congenital Aural Atresia: A Case Report

Congenital external canal atresia is one of the congenital ear anomalies that can occur in patients. Similarly, congenital cholesteatoma is also another congenital disease that is often diagnosed in early adulthood. Both the above-mentioned diseases can occur independently but the presence of both these entities is a rare occurrence and needs a high degree of suspicion aided by a computed tomography scan to make the diagnosis. We are presenting a case of a sixteen-year-old patient who presented with unilateral ear anomaly, earache, facial palsy, and postaural swelling and was diagnosed as a right sided congenital aural atresia with congenital cholesteatoma. He was surgically managed with right-sided modified radical mastoidectomy with canaloplasty and closure of mastoid fistula under general anesthesia.

Occlusion Effect in Response to Stimulation by Soft Tissue Conduction-Implications

To gain insight into the broader implications of the occlusion effect (OE—difference between unoccluded and occluded external canal thresholds), the OE in response to pure tones at 0.5, 1.0, 2.0 and 4.0 kHz to two bone conduction sites (mastoid and forehead) and two soft tissue conduction (STC) sites (under the chin and at the neck) were assessed. The OE was present at the soft tissue sites and at the bone conduction sites, with no statistical difference between them. The OE was significantly greater at lower frequencies, and negligible at higher frequencies. It seems that the vibrations induced in the soft tissues (STC) during stimulation at the soft tissue sites are conducted not only to the inner ear and elicit hearing, but also reach the walls of the external canal and initiate air pressures in the occluded canal which drive the tympanic membrane and excite the inner ear, leading to hearing. Use of a stethoscope by the internist to hear intrinsic body sounds (heartbeat, blood flow) serves as a clear demonstration of STC and its relation to hearing.

Pseudo mastoid obliteration with conchal cartilage may be a safe alternative technique for cochlear implantation in canal wall down mastoidectomy with large meatoplasty

ObjectiveSafe cochlear implantation is challenging in patients with canal wall down mastoid cavities, and the presence of large meatoplasties increases the risk of external canal overclosure. This paper describes our results of obliteration of the mastoid cavity with conchal cartilage as an alternative procedure in cases of canal wall down mastoidectomy with very large meatoplasty.MethodsThe cases of seven patients with a canal wall down mastoidectomy cavity who underwent cochlear implantation were retrospectively reviewed. Post-operative complications were analysed. The mean follow-up duration was 4.5 years.ResultsThere was no hint of cholesteatoma recurrence and all patients have been free of symptoms during follow up. Only one patient showed cable extrusion six months after surgery, and implantation of the contralateral ear was needed.ConclusionPseudo-obliteration of the mastoid cavity with a cartilage multi-layered palisade reconstruction covering the electrode may be a safe alternative in selected patients with a large meatoplasty.

Malignant Mucosal Melanoma of the Eustachian Tube With Extension Into the Ipsilateral External Ear Canal: A Case Report and Review of the Literature

Mucosal melanoma arising in the middle ear or eustachian tube is uncommon. We present a patient with hearing loss and otalgia found to have mucosal melanoma which occurred in the eustachian tube with extension into the middle ear cavity and external ear canal. Otologic clinics was consulted and biopsy of the mass located at the external canal was performed to ascertain the pathological diagnosis. The patient refused immunotherapy and surgery instead of undergoing radiotherapy and died from hepatic metastasis 8 months later. The mucosal melanoma originated from the eustachian tube with extension into the external ear canal is exceedingly rare, and the differential diagnosis should be considered for tumors in external ear canal.

Labyrinthectomy after Cochlear Implantation: A Case of a Novel Approach for Vertigo Control

Vertigo control in cases of Ménière disease and deafness can be achieved by labyrinthectomy before or as a single-stage procedure during cochlear implantation. The aim was to describe a case in which a labyrinthectomy was performed after cochlear implantation. The scar tissue was removed from the electrode cable, and the receiver was removed from the periostal pocket and placed out without electrode dislocation. Labyrinthectomy was performed after securing the electrode at the external canal. The patient disclaimed after three months no disabling vertigo. Intraoperatively, the electrode was not dislocated. A labyrinthectomy can be performed even after cochlear implantation to treat vertigo.

Management of Otological Foreign Bodies Impaction in Tertiary Health Care Center

Background: Otologic foreign body impaction are common ear disorder with an associated challenge due to high levels with of pre-hospital unskilled attempted removal. Aim: This study aimed at determining the prevalence, socio-demographic features, etiology, clinical presentation, management and outcome in a tertiary health care center in Nigeria. Materials and Methods: This is a prospective hospital-based study of all patients with an impacted otologic foreign body. Consented patients were studied between October 2015 and September 2017. The interviewer-assisted questionnaire was used to collect data. Analysis of obtained data was done SPSS version 16.0. Results: Prevalence of otologic foreign body impaction was 4.5%. There were 58.5% males with a male to female ratio of 1.5:1. The main type of ear foreign body impaction was 85.2% organic (living or dead) and 14.8% inorganic. Commonest otologic foreign body were a cotton bud, insects and seeds in 38.5%, 17.0% and 11.9% respectively. The foreign body was unilateral in 97.0% and bilateral in 3.0%. Left ear in 42.2% and right ear in 54.8%. The foreign body was in the external canal in 97.8% and middle ear cleft in 2.2%. Main sources of referral were self-reporting in 30.4% and general practitioners in 22.2%. Commonest predisposing factors were 31.1% allergy, 23.7% otitis externa, 15.6% earwax and 3.0% mental disorders. Conclusion: There are the different type of otology foreign body in all age group and associated predisposing factors. Pre-hospital attempt removal by unskilled sympathizers and untrained health workers leads to avoidable complications.