Surgical decision-making in superior canal dehiscence syndrome with concomitant otosclerosis.

OBJECTIVE: The diagnosis and management of Superior Canal Dehiscence Syndrome (SCDS) with concomitant otosclerosis can be a challenge. Otosclerosis can mask SCDS symptoms and stapes surgery may reveal or exacerbate vestibular symptoms. Our aim is to present four cases of SCDS with concomitant otosclerosis and thereby informing the reader about the possibility of this dual occurrence and its implications for treatment. CASES: Four patients with SCDS and concomitant otosclerosis are presented. Two patients underwent surgical treatment for both SCDS and otosclerosis and two patients opted for conservative management. OUTCOMES: The main differences between surgically and non-surgically treated cases are the presence of autophony and pressure-induced vertigo and a more severe experience of symptoms in surgically treated cases. Surgically treated cases achieved a sizeable reduction in postoperative air-bone gap and resolution of vestibular symptoms. CONCLUSION: The subjective severity of symptoms in combination with shared decision-making is key in determining the appropriate treatment plan for SCDS and concomitant otosclerosis.

Surgical outcome in class 4 congenital anomalies of the ossicular chain: a systematic review of the literature.

OBJECTIVE: To review hearing and surgical outcomes after reconstructive middle ear surgery in class 4 congenital middle ear anomalies (CMEA), e.g., patients with oval- or round window atresia of dysplasia. DATA SOURCES: Pubmed/Medline, Embase and Cochrane library. REVIEW METHODS: Articles containing data on hearing outcomes and complications after reconstructive ear surgery in class 4 anomalies were analyzed and critically appraised. The following data were included and reviewed: patient demographics, audiometric testing, surgical techniques, complications, revision surgeries and their outcomes. Risk of bias was determined, and GRADE certainty of evidence was assessed. Primary outcomes were postoperative air conduction thresholds (AC), change in AC, and success rates (closure of the ABG to within 20 dB), the occurrence of complications (most importantly sensorineural hearing loss) and the long-term stability of hearing results (> 6-month follow-up) and occurrence of recurrence of preoperative hearing loss. RESULTS: Success rates varied from 12.5 to 75% at long-term follow-up with larger cohorts reporting success rates around 50%, mean postoperative gain in AC varied from 4.7 to 30 dB and - 8.6 to 23.6 dB at, respectively, short- and long-term follow-up. No postoperative change in hearing occurred in 0-33.3% of ears, and recurrence of hearing loss occurred in 0-66.7% of ears. SNHL occurred in a total of seven ears across all studies of which three experienced complete hearing loss. CONCLUSION: Reconstructive surgery can be an effective treatment option which should be considered in patients with very favorable baseline parameters, while also considering the substantial risk of recurrence of hearing loss, the possibility of unchanged hearing despite surgery and the rare occurrence of SNHL. LEVEL OF EVIDENCE: 2c.

Otologic and audiologic findings in 22q11.2 deletion syndrome.

Hearing loss is frequently present in the 22q11.2 deletion syndrome. Our aim was to describe the audiologic and otologic features of patients with 22q11.2 deletion syndrome. We conducted a retrospective cohort study in a single tertiary referral center. We reviewed medical files of all patients with 22q11.2 deletion syndrome who visited an otolaryngologist, plastic surgeon or speech therapist, for audiologic or otologic features. Hearing loss was defined as a pure tone average (of 0.5, 1, 2, and 4 kHz) of >20 decibel hearing level. Audiograms were available for 102 of 199 included patients, out of which 163 ears were measured in the required frquencies (0.5-4 kHz). Median age at time of most recent audiogram was 7 years (range 3-29 years). In 62 out of 163 ears (38%), hearing loss was present. Most ears had conductive hearing loss (n = 58) and 4 ears had mixed hearing loss. The severity of hearing loss was most frequently mild (pure tone average of ≤40 decibel hearing level). In 22.5% of ears, otitis media with effusion was observed at time of most recent audiogram. Age was not related to mean air conduction hearing thresholds or to otitis media with effusion (p = 0.43 and p = 0.11, respectively). In conclusion, hearing loss and otitis media are frequently present in patients with 22q11.2 deletion syndrome. Moreover, our results suggest that children with 22q11.2 deletion syndrome remain susceptible for otitis media as they age.

Prevalence of hearing loss and clinical otologic manifestations in patients with 22q11.2 deletion syndrome: A literature review.

BACKGROUND: Hearing loss and otitis media are frequently reported in patients with 22q11.2 deletion syndrome. OBJECTIVE OF REVIEW: Our objective was to review the current literature on the prevalence of hearing loss and otologic manifestations in patients with 22q11.2 deletion syndrome. TYPE OF REVIEW: Systematic review. SEARCH STRATEGY: We conducted a systematic search in PubMed and Embase combining the term "22q11.2 deletion syndrome" and synonyms with "hearing loss" and "otologic manifestations" and synonyms. EVALUATION METHOD: We screened title/abstract and full text of all retrieved articles on pre-defined in- and exclusion criteria. The remaining articles were assessed on risk of bias. Outcome measures included the prevalence of hearing loss and otologic manifestations such as otitis media. RESULTS: Our search yielded 558 unique studies of which a total of 25 articles were included for critical appraisal and data extraction. Twenty-one studies reported on hearing loss, and 21 studies on otologic manifestations. The prevalence of hearing loss varied from 6.0% to 60.3%, where in most studies conductive hearing loss was most prevalent. Rates of recurrent or chronic otitis media varied from 2.2% to 89.8%. CONCLUSION: Although a very broad range in prevalences is reported in different studies, hearing loss and recurrent or chronic otitis media are frequently present in patients with 22q11.2 deletion syndrome. Regular check-ups and audiometric testing are advised in these patients.

[Persistent otorrhoea caused by cerebrospinal fluid leakage]. / Chronisch loopoor door liquorlekkage.

Persistent otorrhoea is a common issue for both children and adults, which can be caused by leakage of cerebrospinal fluid from the lateral skull base. Bacterial superinfection of the chronically humid middle ear, arising from continuous cerebrospinal fluid leakage, may contribute to an atypical clinical presentation. That is, otogenous cerebrospinal fluid leakage may mimic serious otitis media with concomitant conductive hearing loss, leading to a serious diagnostic delay in some patients. On the basis of three cases with cerebrospinal fluid leakage, resulting in persistent otorrhoea, we underline the importance of its timely diagnosis and treatment.

Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review.

BACKGROUND AND PURPOSE: The 22q11.2 deletion syndrome is characterized by a heterogenic phenotype, including hearing loss. The underlying cause of hearing loss, especially sensorineural hearing loss, is not yet clear. Therefore, our objective was to describe anatomic malformations in the middle and inner ear in patients with 22q11.2 deletion syndrome. MATERIALS AND METHODS: A retrospective case series was conducted in 2 tertiary referral centers. All patients with 22q11.2 deletion syndrome who had undergone CT or MR imaging of the temporal bones were included. Radiologic images were evaluated on predetermined parameters, including abnormalities of the ossicular chain, cochlea, semicircular canals, and vestibule. RESULTS: There were 26 patients (52 ears) with a CT or MR imaging scan available. A dense stapes superstructure was found in 18 ears (36%), an incomplete partition type II was suspected in 12 cochleas (23%), the lateral semicircular canal was malformed with a small bony island in 17 ears (33%), and the lateral semicircular canal and vestibule were fused to a single cavity in 15 ears (29%). CONCLUSIONS: Middle and inner ear abnormalities were frequently encountered in our cohort, including malformations of the lateral semicircular canal.

Otological aspects and surgical outcome in a consanguineous family with a novel ANKH gene mutation.

OBJECTIVES: To report the hearing impairment in a new autosomal recessive metabolic disorder due to a mutation in the ANKH gene and to report the outcomes of exploratory tympanotomy. STUDY DESIGN: Retrospective chart study. SETTING: Tertiary referral center. PATIENTS: One large consanguineous family was examined. Three patients underwent exploratory tympanotomy. INTERVENTION: Exploratory tympanotomies in three patients. MAIN OUTCOME MEASURES: Medical and otological histories; postoperative hearing outcomes. RESULTS: In the patients who received tympanotomies, a postoperative hearing gain of between 5 and 20 dB was noted, with a residual air-bone gap of between 6 and 35 dB (follow-up between 4 and 67 months). The sensorineural component of the hearing impairment varies greatly, between 4 and 23 dB, and this factor might also affect the final hearing outcome. CONCLUSIONS: Exploratory tympanotomy might improve the hearing outcome in patients with this syndrome and therefore surgery has a limited audiometric benefit in general. Based on anatomical findings, a congenital origin for the ossicular chain anomaly seems likely. It remains unclear whether the sensorineural component of the hearing impairment is progressive and this should be investigated further.

Ear and hearing problems in relation to karyotype in children with Turner syndrome.

The aim of the study was to report otologic and audiologic characteristics in a group of children with Turner syndrome (TS) and correlate these findings to karyotype. Additionally, we give recommendations for the otologic care of these children. Sixty children (age 1.7-21.2 years) were included in this retrospective study. Medical history and karyotypes were recorded and otologic and audiologic evaluation was performed. A history of recurrent otitis media was reported in 41/60 (68%) children and 3/60 (5%) had suffered from cholesteatoma. Audiometric data in 56 children revealed that normal hearing was only present in 33/112 (29%) ears. All other ears 79/112 (71%) were classified in five different audiometric categories for hearing loss. Hearing thresholds in general appeared to be about 10-11 dB worse in children with a monosomy 45,X or isochromosome (both have a total deletion of the short (p) arm of the X-chromosome) compared to those having a mosaicism or structural anomaly (partial deletion, or total deletion in only a few cells). Our findings support the hypothesis that hearing can be affected by loss of the p-arm of the X-chromosome. It is for the first time that a relation between hearing problems and karyotype is statistically confirmed in a large group of children with TS.