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Introduction: Cholesteatoma is an uncommon condition that has occasionally been associated with cochlear implantation (CI). Cases of secondary acquired cholesteatoma have been described, in which intra-operative breech of the posterior canal wall is thought to be a contributing factor. Primary acquired cholesteatoma is not typically associated with congenital sensorineural hearing loss (SNHL) or CI in children. Congenital cholesteatoma is a rarer entity yet with an incidence in the literature of 2‐4% of all cholesteatomas. We present lessons learned from our experience of congenital cholesteatoma in CI candidates., Methods: Retrospective reviews of departmental CI and cholesteatoma databases in a tertiary/quaternary pediatric center were conducted. Cases of congenital cholesteatoma were identified. The proportion of congenital cholesteatoma cases in CI candidates was compared with number of acquired cholesteatoma. Optimum management of congenital cholesteatoma in CI candidates was reviewed., Results: In our pediatric CI population, 2/794 patients (0.25%) were recognized as having a congenital cholesteatoma during their evaluation for CI. No cases of primary acquired cholesteatoma were identified in this population at presentation or at follow up to 18 years., Discussion: The 0.25% incidence of congenital cholesteatoma in our population of CI patients is higher than expected of this rare condition. It is surprisingly common given the absence of any cases of primary acquired cholesteatoma, which is considerably more common even in the pediatric population. Both patients likely had an inherited form of hearing loss and a genetic contribution to the presence of congenital cholesteatoma cannot be excluded. The presence of congenital cholesteatoma has implications for the algorithm currently employed for the assessment of CI. We consider that surgery should be staged to ensure complete removal of the cholesteatoma before implantation. Thus bilateral CI should be provided sequentially rather than simultaneously in the presence of unilateral cholesteatoma.

Objective: The objective of this study was to examine the anatomical, audiological, and surgical factors that can affect the hearing outcome in Pendred syndrome cochlear implant recipients. Patients with Pendred syndrome represent challenging cochlear implant candidates, combining goiter, severe-to-profound hearing loss, and inner-ear dysplasias. The hearing outcome and further relevant parameters in such patients have not been adequately evaluated yet., Material and Methods: Retrospective study in a tertiary referral cochlear implant centre. Data of patients with Pendred syndrome, who had undergone cochlear implantation in the 10-year period 1999-2008, were evaluated., Results: Five cochlear implant recipients with Pendred syndrome were identified, four unilateral and one bilateral. The average postoperative follow-up duration for these patients was 4.8 years. Enlarged vestibular aqueduct and Mondini dysplasia were the most common anatomical findings. Although these anatomical variances did not affect the electrode insertion, they prolonged the duration of the surgery. Cerebrospinal fluid gusher was the most common intraoperative complication. All patients enjoyed satisfactory hearing rehabilitation., Discussion: Cochlear implantation is the proper method for optimal hearing rehabilitation in patients with Pendred syndrome. Although the precise pathogenetic mechanism and the genetic background of deafness in Pendred syndrome have not been completely understood, the preexisting hearing experience represents a positive factor for satisfying hearing outcome. The inner-ear malformations can cause mild surgical difficulties and extended surgery duration. The cochlear implant surgeon should be aware of these difficulties to avoid complications.

Mutations in SLC26A4 can cause deafness and goiter in Pendred syndrome (PDS) or isolated non-syndromic enlargement of the vestibular aqueduct (NSEVA). PDS is one of the most common hereditary causes of deafness. It is characterized by autosomal-recessive inheritance of sensorineural hearing loss, enlarged vestibular aqueducts (EVA), and an iodide organification defect with or without goiter. The diagnosis is confirmed by detection of two mutant alleles of SLC26A4 in a patient with EVA. The perchlorate discharge test can detect the underlying thyroid biochemical defect and is useful for the evaluation of goiter or for the clinical diagnosis of PDS in a patient with a non-diagnostic SLC26A4 genotype. SLC26A4 encodes the pendrin polypeptide, an anion exchanger that, in recombinant expression systems, transports chloride, bicarbonate, and iodide. Investigation of pendrin function in the inner ear has been facilitated by the Slc26a4(Δ) (knockout) mouse model, but the exact mechanism of its hearing loss remains unclear, as does pendrin's principal transport function in the inner ear. Treatment of PDS is focused upon rehabilitation of hearing loss, and surveillance and management of goiter and, less commonly, hypothyroidism., (Copyright © 2011 S. Karger AG, Basel.)

Complex analysis of the methods of early diagnostics and tactics of surgery treatment of 340 professional flyers with various forms of nodal thyroid diseases in the 5-yr period (1996-2002) showed effectiveness of a specialized diagnostic program including USI-controlled biopsy, in reliable estimate of structural changes of nodal thyroid formations already at early phases of disease in the majority of patients (83.2%). Organ-preserving and economical operations for removal of benign thyroid knottings led to recovery and professional rehabilitation of 90.3% of the patient-pilots.