Presentation of dizziness in individuals with chronic otitis media: data from the multinational collaborative COMQ-12 study.

PURPOSE: In chronic otitis media (COM), disease chronicity and severity of middle ear inflammation may influence the development of inner ear deficits, increasing the risk of vestibular impairment. This secondary analysis of the multinational collaborative Chronic Otitis Media Questionnaire-12 (COMQ-12) dataset sought to determine the prevalence of vestibular symptoms in patients with COM and identify associated disease-related characteristics. METHODS: Adult patients with a diagnosis of COM in outpatient settings at nine otology referral centers across eight countries were included. We investigated the presence of vestibular symptoms (dizziness and/or disequilibrium) using participant responses to item 6 of a native version of the COMQ-12. Audiometric data and otoscopic assessment were also recorded. RESULTS: This analysis included 477 participants suffering from COM, with 56.2% (n = 268) reporting at least mild inconvenience related to dizziness or disequilibrium. There was a significant association between air conduction thresholds in the worse hearing ear and presence of dizziness [adjusted odds ratio (AOR), 1.01; 95% CI 1.00-1.02; p = 0.0177]. Study participants in European countries (AOR 1.53; 95% CI 1.03-2.28; p = 0.0344) and Colombia (AOR 2.48; 95% CI 1.25-4.92; p = 0.0096) were more likely to report dizziness than participants in Asian countries. However, ear discharge and cholesteatoma showed no association with dizziness in the adjusted analyses. CONCLUSION: Vestibular symptoms contribute to burden of disease in patients with COM and associates with hearing disability in the worse hearing ear. Geographical variation in presentation of dizziness may reflect financial barriers to treatment or cultural differences in how patients reflect on their health state.

Usefulness of Virtual Monochromatic Images and Iodine Maps Derived from Dual-Energy Computed Tomography for Diagnosing Deep Neck Abscesses.

OBJECTIVE: We aimed to determine whether dual-energy computed tomography (CT) is useful for evaluating deep neck abscesses. METHODS: This study included 22 consecutive patients who were clinically suspected of having a deep neck abscess and underwent dual-energy CT. Conventional 120-kVp images, 70- and 40-keV virtual monochromatic images (VMIs), and iodine maps were inspected to calculate the contrast ratio of the abscess rim (AR) to the abscess center (AC) or to the adjacent muscle (M). The diagnostic certainty of abscesses was assessed on these images. RESULTS: Twenty (91%) of 22 patients had a definitive diagnosis. The contrast ratio for AR/AC and AR/M was significantly higher on 40-keV VMIs and iodine maps than on 120-kVp images and 70-keV VMIs (P < 0.05). On both 40-keV VMIs and iodine maps, the diagnostic certainty of abscess improved in 3 (15%) cases compared with 120-kVp images and 70-keV VMIs. CONCLUSIONS: Dual-energy CT-based 40-keV VMIs and iodine maps are useful for evaluating deep neck abscesses and may improve diagnostic certainty.

Is the Conductive Hearing Loss in NOG-Related Symphalangism Spectrum Disorder Congenital?

We describe a dominant Japanese patient with progressive conductive hearing loss who was diagnosed with NOG-related symphalangism spectrum disorder (NOG-SSD), a spectrum of congenital stapes fixation syndromes caused by NOG mutations. Based on the clinical features, including proximal symphalangism, conductive hearing loss, hyper-opia, and short, broad middle, and distal phalanges of the thumbs, his family was diagnosed with stapes ankylosis with broad thumbs and toes syndrome (SABTT). Genetic analysis revealed a heterozygous substitution in the NOG gene, c.645C>A, p.C215* in affected family individuals. He had normal hearing on auditory brainstem response (ABR) testing at ages 9 months and 1 and 2 years. He was followed up to evaluate the hearing level because of his family history of hearing loss caused by SABTT. Follow-up pure tone average testing revealed the development of progressive conductive hearing loss. Stapes surgery was performed, and his post-operative hearing threshold improved to normal in both ears. According to hearing test results, the stapes ankylosis in our SABTT patient seemed to be incomplete at birth and progressive in early childhood. The ABR results in our patient indicated the possibility that newborn hearing screening may not detect conductive hearing loss in patients with NOG-SSD. Hence, children with a family history and/or known congenital joint abnormality should undergo periodic hearing tests due to possible progressive hearing loss. Because of high success rates of stapes surgeries in cases of SABTT, early surgical interventions would help minimise the negative effect of hearing loss during school age. Identification of the nature of conductive hearing loss due to progressive stapes ankylosis allows for better genetic counselling and proper intervention in NOG-SSD patients.

Clinical features and treatment outcomes of otitis media with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (OMAAV): A retrospective analysis of 235 patients from a nationwide survey in Japan.

OBJECTIVE: We aimed to analyze clinical features and treatment outcomes of otitis media caused by antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV), i.e. otitis media with AAV (OMAAV). METHODS: This survey was performed between December 2013 and February 2014. The study began with a preliminary survey to 123 otolaryngology institutions in Japan to inquire about their experiences with OMAAV patients during the past 10 years, and was followed by a questionnaire survey to investigate clinical and laboratory findings. OMAAV was defined using the criteria described in the text. RESULTS: Two hundred and thirty-five patients classified as OMAAV were enrolled in this study. They were characterized as follows: (1) disease onset with initial signs/symptoms due to intractable otitis media with effusion or granulation, which did not respond to ordinary treatments such as antibiotics and insertion of tympanic ventilation tubes, followed by progressive hearing loss; (2) predominantly female (73%) and older (median age: 68 years); (3) predominantly myeloperoxidase (MPO)-ANCA-positive (60%), followed by proteinase 3 (PR3)-ANCA-positive (19%) and both ANCAs-negative (16%); (4) frequently observed accompanying facial palsy (36%) and hypertrophic pachymeningitis (28%); and (5) disease often involving lung (35%) and kidney (26%) lesions. Four factors associated with OMAAV were found to be related to an unfavorable clinical course threatening the patient's hearing and/or lives, namely facial palsy, hypertrophic pachymeningitis, both ANCAs-negative phenotype, and disease relapse. The occurrence of hypertrophic pachymeningitis was associated with facial palsy (p < 0.05), both ANCAs-negative phenotype (p < 0.001), and headache (p < 0.001). The administration of corticosteroid together with an immunosuppressant was an independent predicting factor for lack of disease relapse (odds ratio [OR] = 1.90, p = 0.03) and an improvement in hearing loss (OR =2.58, p = 0.0002). CONCLUSION: Since OMAAV has novel clinical features, the disease may be categorized as a subentity for the classification of AAV.

[Evaluation of the Effectiveness and Safety in a Multi-center Clinical Trial of VIBRANT SOUNDBRIDGE in Japan].

Middle ear implants (MEIs) such as the Vibrant Soundbridge (VSB) are attractive and alternative treatments for patients with conductive, sensorineural, and mixed hearing loss who do not benefit from, or who choose not to wear, conventional hearing aids (HAs). Recent studies suggest that MEIs can provide better improvements in functional gain, speech perception, and quality of life than HAs, although there are certain risks associated with the surgery which should be taken into consideration, including facial nerve or chorda tympanic nerve damage, dysfunctions of the middle and inner ears, and future device failure/explantation. In Japan, a multi-center clinical trial of VSB was conducted between 2011-2014. A round window vibroplasty via the transmastoid approach was adopted in the protocol. The bony lip overhanging the round window membrane (RWM) was extensively but very carefully drilled to introduce the Floating Mass Transducer (FMT). Perichondrium sheets were used to stabilize the FMT onto the RWM. According to the audiological criteria, the upper limit of bone conduction should be 45 dB, 50 dB, and 65 dB from 500 Hz to 4, 000 Hz. Twenty-five patients underwent the surgery so far at 13 different medical centers. The age at the surgery was between 26-79 years old, and there were 15 males and 10 females. The cause of conductive or mixed hearing loss was middle ear diseases in 23 cases and congenital aural atresia in two cases. The data concerning on the effectiveness and safety of VSB was collected before the surgery and 20 weeks after the surgery. Significant improvements of free-field Pure Tone Audiogram (PTA) from 250 Hz to 8, 000 Hz were confirmed (p < 0.001). Hearing gain up to 40 dB was achieved in the 1, 000 Hz to 4, 000 Hz range. No deterioration in either air conduction or bone conduction at PTA was noted at 20 weeks after the surgery. Monosyllable speech perception in both quiet and noisy conditions improved significantly (p < 0.001). The speech discrimination score in both quiet and noisy conditions improved significantly too (p < 0.001). In the future, it is likely that there will be an increasing population even in Japan that will meet the criteria for MEIs such as VSB. However, the long-term efficacy and safety of these devices should be established.

[Multicenter Clinical Study of Vibrant Soundbridge in Japan: Analysis of Subjective Questionnaires].

The Vibrant Soundbridge (VSB) is an active middle ear implant with the Floating Mass Transducer (FMT). We performed a multicenter study to study the efficacy of the VSB by means of "the 10 Questionnaire on Hearing 2002" and "the APHAB questionnaire" at 13 hospitals between 2011 and 2013. In all, 23 patients with mixed or conductive hearing loss received VSB implantation by the round window placement technique. These individuals were generally unable to use, or gained little from conventional hearing aids or bone conduction hearing aids. Two questionnaires were administrated before the surgery and 20 weeks after the VSB implantation. Scores on every item of "the 10 Questionnaire on Hearing 2002" showed significant improvement under noise after VSB implantation. On the APHAB, the scores for Ease of Communication, Reverberation, and Background subscales improved significantly after the VSB implantation, while the score for the Aversiveness subscale alone failed to show a positive improvement from the inexperience to the new sound. Analysis of the responses to these subjective questionnaires revealed better results after VSB implantation as compared to the preoperative data. In conclusion, RW vibroplasty with the use of VSB provided subjective benefit in patients with conductive and mixed hearing loss.

[A case of mycotic pseudoaneurysm of the external carotid artery following a peritonsillar abscess].

Mycotic pseudoaneurysm is a rare complication of deep neck infection. We report herein on a case of mycotic pseudoaneurysm of the external carotid artery following myelodysplastic syndrome and a peritonsillar abscess. The patient was a male in his 60s, who complained of a sore throat and swelling of the left side of his neck. CT scan of the neck showed a left peritonsillar abscess and a pseudoaneurysm of the left external carotid artery. To correspond to airway obstruction in the event that the pseudoaneurysm might rupture to the pharyngeal space, the patient was transferred to our hospital. Surgical management was not selected, since MRI taken just after the admission to our hospital demonstrated remission of the pseudoaneurysm by organization of the structure and decrease of the blood flow. An antibacterial drug and an antifungal drug, SBTPC and VRCZ, were administered to the patient, the inflammatory signs reduced and the size of the pseudoaneurysm gradually diminished without sequela. These findings strongly suggest the importance of controlling the initial neck infection by administration of appropriate antibacterial and/or antifungal drugs to avoid the expansion of the mycotic pseudoaneurysm. Furthermore, MRI was useful to assess the state of the lesion and to determine the way of management.

Electrical promontory stimulation test using a portable peripheral nerve stimulator with an ear canal electrode.

OBJECTIVE: An intact cochlear nerve is necessary for successful cochlear implantation (CI). Although the promontory stimulation test (PST) using a promontory stimulator (PS) and a transtympanic needle electrode is invasive, it is still commonly used to verify cochlear nerve function. PSs are currently unavailable because they are no longer manufactured; however, considering that PST continues to be beneficial in certain situations, alternative equipment is needed. The PNS-7000® (PNS) was developed as a neurologic instrument for stimulating the peripheral nerves. This study investigated the usefulness of the ear canal stimulation test (ECST) using PNS with a silver ball ear canal electrode, which is a new noninvasive alternative technique to the PST. METHODS: ECST was performed from November 2013 to December 2018 using PS and PNS for patients with severe to profound sensorineural hearing loss. The electrical threshold, most comfortable loudness level, uncomfortable loudness level, dynamic range, and gap detection were measured in the ECST. The results of these measured PNS items were compared with PS. RESULTS: ECST was performed in 61 ears of 35 patients (age, 59.9 ± 20.1 years) using PS and PNS. The sound sensation was elicited in 51 (83.6%) and 52 (85.2%) ears with PS and PNS, respectively. All items excluding GAP were measured in 46 (75%) and 43 (70%) ears at 50 and 100 Hz, respectively. GAP was measured in 33 ears by the ascending and descending methods using PS and PNS. Spearman's rank-order correlation coefficient revealed a significant positive linear correlation between the PS and PNS results in all measurements. No significant difference was found between the PS and PNS thresholds in all measured items. CONCLUSIONS: PNS is a useful instrument for performing ECST as a new alternative to PS. ECST using a silver ball electrode is a less invasive and easier test than PST.

Development of Air Cell System Following Canal Wall Up Mastoidectomy for Pediatric Cholesteatoma.

Background: The development of temporal bone pneumatization is related to the postnatal middle ear environment, where the development of air cells is suppressed with otitis media in early childhood. However, whether air cell formation restarts when mastoidectomy is performed during temporal bone pneumatization remains unclear. Herein, we evaluated temporal bone pneumatization after canal wall up (CWU) tympanomastoidectomy for middle ear cholesteatoma in children. Methods: In total, 63 patients, including 29 patients with congenital cholesteatoma (CC) and 34 patients with acquired cholesteatoma (AC), were assessed using a set of pre- and postoperative computed tomography images. The air cells of the temporal bone were divided into five areas: periantral (anterior), periantral (posterior), periantral (medial), peritubal, and petrous apex. The number of areas with air cells before and after surgery was compared to evaluate temporal bone pneumatization after surgery. Results: A total of 63 patients, comprising 29 with CC and 34 with AC (pars flaccida; 23, pars tensa; 7, unclassified; 4), were evaluated. The median age of patients (18 males and 11 females) with CC was 5.0 (range, 2-15 years), while that of the AC group (23 males and 11 females) was 8 (range, 2-15 years). A significant difference in air cell presence was identified in the CC and AC groups after surgery (Mann-Whitney U, p < 0.001 and p = 0.003, respectively). Between the two groups, considerably better postoperative pneumatization was observed in the CC group. A correlation between age at surgery and gain of postoperative air cell area development was identified in the CC group (Spearman's rank-order correlation coefficient, r = -0.584, p < 0.001). In comparison with the postoperative pneumatization rate of each classified area, the petrous apex area was the lowest in the CC and AC groups. Conclusions: Newly developed air cells were identified in the temporal bones after CWU mastoidectomy for pediatric cholesteatoma. These findings may justify CWU tympanomastoidectomy, at least for younger children and CC patients, who may subsequently develop air cell systems after surgery.

Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome.

BACKGROUND: Pendred syndrome (PS) and nonsyndromic hearing loss associated with enlarged vestibular aqueduct (EVA) are caused by SLC26A4 mutations. The Okinawa Islands are the southwestern-most islands of the Japanese archipelago. And ancestral differences have been reported between people from Okinawa Island and those from the main islands of Japan. To confirm the ethnic variation of the spectrum of SLC26A4 mutations, we investigated the frequencies of SLC26A4 mutations and clinical manifestations of patients with EVA or PS living in the Okinawa Islands. METHODS: We examined 22 patients with EVA or PS from 21 unrelated families in Okinawa Islands. The patient's clinical history, findings of physical and otoscopic examinations, hearing test, and computed tomography (CT) scan of the temporal bones were recorded. To detect mutations, all 21 exons and the exon-intron junctions of SLC26A4 were sequenced for all subjects. Quantitative reverse-transcription polymerase chain reaction (qRT-PCR) for SLC26A4 and calculations using the comparative CT (2(-ΔΔCT)) method were used to determine the pathogenicity associated with gene substitutions. RESULTS: SLC26A4 mutations were identified in 21 of the 22 patients. We found a compound heterozygous mutation for IVS15 + 5G > A/H723R in nine patients (41%), a homozygous substitution of IVS15 + 5G > A in six patients (27%), and homozygous mutation for H723R in five patients (23%). The most prevalent types of SLC26A4 alleles were IVS15 + 5G > A and H723R, which both accounted for 15/22 (68%) of the patients. There were no significant correlations between the types of SLC26A4 mutation and clinical manifestations. Based on qRT-PCR results, expression of SLC26A4 was not identified in patients with the homozygous substitution of IVS15 + 5G > A. CONCLUSIONS: The substitution of IVS15 + 5G > A in SLC26A4 was the most common mutation in uniquely found in patients with PS and EVA in Okinawa Islands. This suggested that the spectrum of SLC26A4 mutation differed from main islands of Japan and other East Asian countries. The substitution of IVS15 + 5G > A leads to a loss of SLC26A expression and results in a phenotype of PS and EVA.

Glucose metabolism in the primary auditory cortex of postlingually deaf patients: an FDG-PET study.

BACKGROUND/PURPOSE: Previous FDG-PET studies have indicated neuroplasticity in the adult auditory cortex in cases of postlingual deafness. In the mature brain, auditory deprivation decreased neuronal activity in primary auditory and auditory-related cortices. In order to reevaluate these issues, we used statistical analytic software, namely a three-dimensional stereotaxic region of interest template (3DSRT), in addition to statistical parametric mapping (SPM; Institute of Neurology, University College of London, UK). MATERIALS AND METHODS: (18)F-FDG brain PET scans were performed on 7 postlingually deaf patients and 10 healthy volunteers. Significant increases and decreases of regional cerebral glucose metabolism in the patient group were estimated by comparing their PET images with those of healthy volunteers using SPM analysis and 3DSRT. RESULTS: SPM revealed that the glucose metabolism of the deaf patients was lower in the right superior temporal gyrus, both middle temporal gyri, left inferior temporal gyrus, right inferior lobulus parietalis, right posterior cingulate gyrus, and left insular cortex than that of the control subjects. 3DSRT data also revealed significantly decreased glucose metabolism in both primary auditory cortices of the postlingually deaf patients. CONCLUSION: SPM and 3DSRT analyses indicated that glucose metabolism decreased in the primary auditory cortex of the postlingually deaf patients. The previous results of PET studies were confirmed, and our method involving 3DSRT has proved to be useful.

[Three cases of external auditory exostoses in a habitual sauna user].

Exostoses are benign bony excrescences of the external auditory canal, commonly encountered in people who avidly engage in aquatic activities, hence the name "surfer's ear". Exostoses are more prevalent in cold water surfers, and additional years of surfing increase one's risk not only for developing an exostosis but also for developing more severe lesions. Exostoses remain clinically silent until they become large enough to impair the egress of epithelial debris and water from the canal, in which case there may be an associated external otitis and fluctuating hearing loss. Histologically, they demonstrate a laminated structure consistent with a periodic growth pattern. They may also cause a hearing loss by impinging upon the tympanic membrane and manubrium. Symptomatic relief is attained by surgical removal and skin grafting of the epithelially denuded areas of the bony walls of the external auditory canal. We report herein on 3 cases of exostoses which developed in patients who had a habit of taking a cold water bath after a hot sauna for more than 15 years: in spite of the limited time of exposure to cold water stimulation, alternating exposure to the hot environment of the sauna and cold water baths seemed to have acceralated the formation of the exostoses.

Speech Perception of Second Cochlear Implant after 6 Years of Age in Prelingually Deaf Children.

Sequential bilateral cochlear implantation in children becomes less effective as the inter-implant interval increases. However, the cause of this and the age at which speech perception becomes impossible are unclear. We examined the cases of 11 prelingually deaf children who underwent unilateral cochlear implantation at our hospitals before the age of 5 years old, followed by a second implantation procedure on the contralateral side when they were aged ≥ 6 years old (6-12 years old). The subjects' hearing thresholds and speech discrimination scores for the second cochlear implant were evaluated at 3 postoperative months and 1-7 years. All of the subjects demonstrated improvements in their hearing thresholds to a mean of 30 dB HL at 1 year. Regarding speech perception, one patient (a 12-year-old), who had developed bilateral hearing loss at 30 months of age after contracting mumps, demonstrated a 90% improvement in his speech discrimination score at 1 year. However, among the other congenitally deaf children, there were two patients whose speech discrimination scores had improved by ≥ 80% at > 4 postoperative years. The congenitally deaf children exhibited poor speech perception despite showing improved hearing thresholds in the ears that received second cochlear implants. Assuming that the auditory pathway beyond the superior olivary complex remained functional, the reduced speech perception abilities associated with the second cochlear implants may have been attributable to the loss of the spiral ganglion and cochlear nucleus cells due to a lack of auditory input since birth.

Hearing Outcome and Predictors after Implanting Bone Conduction or Middle Ear Implants in Ears with Refractory Otitis Media.

Bone conduction implants (BCIs) and middle ear implants (MEIs) are promising options for individuals with persistent chronic inflammation of the middle or outer ear. However, the structure of the middle ear is often altered in patients who undergo mastoidectomy or posterior wall removal for refractory otitis media, leaving uncertainty regarding the efficacy of hearing devices. Only a few studies have examined auditory outcomes based on the etiology of hearing impairment. We investigated hearing outcomes, including speech audiometry, in patients who underwent implantation after surgery for refractory otitis media. Our findings indicated that patients who received BCIs or MEIs achieved favorable hearing outcomes. Furthermore, a correlation was observed between the preoperative bone-conduction threshold at 1 kHz in the better ear and the sound-field threshold at 1 kHz with BCIs, whereas no correlation was observed between the preoperative bone-conduction threshold and the sound-field threshold with MEIs. This study highlights the positive impact of BCIs and MEIs in patients who undergo implantation after surgery for refractory otitis media. Additionally, our study identified parameters that predict postoperative efficacy.

[Audiometric findings of senior high school students belonging to a Kendo Club].

Between 1992 and 2010, we studied audiometric findings obtained from the annual hearing examination for senior high-school students who belonged to an active Kendo team. The subjects comprised 140 males and 88 females with ages between 15 and 18 years. The pure tone audiometry showed that 69 ears of 45 students (19.7%) had sensorineural hearing loss with the highest threshold shift at 2000 Hz, followed by 4000 Hz. Frequent audiometric patterns included a 2000 Hz-dip, a 4000 Hz-dip and a combined loss of 2000 and 4000 Hz. Some of these affected subjects had shown a completely normal audiogram at the previous examination. Moreover, small-dips with a depth less than 25 dB were found to be limited either at 2000 Hz or at 4000 Hz, suggesting early audiometric changes from a temporary or a permanent threshold shift caused by noise and/or head blows during Kendo practice. The incidence of such abnormal audiograms among this Kendo club members appears to be decreasing year by year owing to the annual check-ups over the 18-year study period, and student counseling regarding the possible adverse effect of Kendo on the inner ear function.

[A case of propranolol therapy for infantile capillary hemangiomas of the parotis].

A 4-month-old healthy female infant presented with rapid onset of subaural swelling over a three-month period. A head and neck exam demonstrated a subaural elastic hard mass with a red birthmark below the left auricle. MRI of the neck demonstrated a well-defined parotid mass consistent with a haemangioma. We treated this infant with 1 mg/kg of propranolol, which was gradually increased over two months to a dose of 2 mg/kg daily. The tumor began to reduce in size within three days after drug administration, and became less prominent in one month, and had almost totally disappeared within four months. On ten-month follow-up, the patient was asymptomatic and repeated MRI demonstrated further regression of the tumor. Propranolol could be the first-line choice for treating haemangioma rather than simple

[Problem and assignment for distinguishing the Usher syndrome type].

Usher syndrome is an autosomal-recessive disorder that causes bilateral sensorineural hearing loss, retinitis pigmentosa (RP), and occasionally vestibular dysfunction. Usher syndrome types 1, 2, and 3 can be distinguished by differences in audiovestibular features. The objectives of this retrospective study were to evaluate 26 patients with Usher syndrome clinically. The 26 patients (male: 12 cases, female: 14 cases) with Usher syndrome, with a clinical diagnosis based on symptoms of bilateral sensorineural hearing loss and RP, had been registered from 13 hospitals as a multicenter study. We assessed the clinical history and performed audiovestibular and ophthalmologic examinations, and genetic testing. Eleven of the patients were classified as having Usher type 1 (38.5%), 6 with Usher type 2 (23.1%), and 9 with Usher type 3 (38.5%). However, many patients with atypical Usher type 1 (70%) and type 2 (83.3%) were found compared with Usher type 3 (10%). The conductive rate of vestibular examinations including the caloric test (50%) was low. There were many variations in the clinical symptoms in Usher syndrome patients, therefore the classification of Usher types 1, 2, and 3 has been complicated. We have proposed a flowchart for the diagnosis of Usher types 1, 2, and 3.

Active Middle Ear Implant in a Patient with Neurofibromatosis Type 1 and Multiple Calvarial Defects: A Case Report.

Bony abnormalities, including sphenoid dysplasia and calvarial defects, are well recognized in patients with neurofibromatosis type 1. However, having multiple calvarial defects is rare. We present a case of a 35-year-old Japanese male patient who was referred to our hospital because of hearing loss. He was diagnosed with neurofibromatosis type 1 during early childhood. Otoscopic examination revealed a protrusion from the anterior wall of the external auditory canal that obstructed the external auditory canal. Computed tomography findings revealed multiple defects and an uneven skull surface. Large bony defects of the anterior wall of the external auditory canal were also identified bilaterally. Conductive hearing loss was caused by temporomandibular joint herniation that was obstructing the external auditory canal in both ears. An active middle ear implant was implanted in the right ear. A floating mass transducer was placed into the round window niche using a round window coupler. The active middle ear implant improved postoperative audiometric thresholds to approximately 35 dB across all frequencies. No complications occurred for up to 30 months after the operation. An active middle ear implant is a feasible and valuable option for patients with neurofibromatosis type 1 and conductive hearing loss due to multiple skull defects that result in temporomandibular joint herniation.