The influence of karyotype on the auricle, otitis media and hearing in Turner syndrome

The study has investigated the relationship between the chromosomal aberration and ear and/or hearing disorders in 115 girls/women with Turner syndrome (TS). A dose-response relationship was found between the karyotype and hearing function. Hearing deteriorated more rapidly with increasing age in TS women lacking the whole p-arm of chromosome X (i.e. monosomy 45,X, or isochromosome cases 46,X,i(Xq)) as compared to women having a partial deletion of the p-arm (structural deletions or mosaicism cases), who, in turn, had poorer hearing than a female random population sample (46,XX) (P<0.001). Moreover, TS subjects having total deletion of the p-arm were three times more likely to have auricular anomalies or conductive hearing loss due to otitis media than subjects with partial deletion (P<0. 05). The results support the hypothesis that lack of growth-regulating genes such as the short stature homeobox-containing gene (SHOX), which is located within the pseudo-autosomal region on the p-arm of the X chromosome, may increase the occurrence of auricular malformations and otitis media and also induce an earlier loss of hearing function. Accordingly, the ear and hearing disorders in TS may be a result of growth disturbances of the auricle, the mastoid, the Eustachian tube and the organ of Corti during development. It is suggested that karyotype may be used as a predictor for future ear and hearing problems in TS.     

Auditory and facial nerve dysfunction in patients with hemifacial microsomia

BACKGROUND: Hemifacial microsomia (HFM) is a common craniofacial disorder characterized by a wide spectrum of anomalies, including conductive hearing loss due to external and middle ear deformities. However, the prevalence of sensorineural hearing loss (SNHL) as well as facial nerve dysfunction is underappreciated. OBJECTIVE: To determine the frequency of auditory and facial nerve dysfunction and its relationship to more severe forms of bilateral HFM. DESIGN: Retrospective medical record review to characterize the clinical severity of HFM and the prevalence and nature of the associated auditory and facial nerve dysfunction. SETTING: Center for Craniofacial Anomalies at the University of California, San Francisco, Medical Center. PATIENTS: Ninety-nine pediatric patients with HFM evaluated at the University of California, San Francisco, Medical Center. MAIN OUTCOME MEASURES: The prevalence of SNHL and facial nerve dysfunction in this patient population and any associations between these 2 characteristics. RESULTS: Hearing loss was present in 74 (75%) of 99 patients, with a conductive component in 73 patients. Sensorineural hearing loss was present in 11 patients ( 11%), with mixed hearing loss in most patients. Fourteen patients required rehabilitation with auditory amplification. Nearly a quarter of the patients (22 [22%] of 99) had facial nerve dysfunction, but only 1 patient had facial palsy on the same side as the SNHL. There was a statistically significant association between having auricular abnormalities and conductive hearing loss or SNHL (P = .30 and .80, respectively). However, there was no statistically significant association between bilateral HFM and the occurrence of either SNHL or facial paralysis, nor was there an association between auditory and facial nerve dysfunction. CONCLUSIONS: Sensorineural hearing loss and facial nerve dysfunction are common in HFM. These findings have important implications in the treatment of patients with HFM.     

先天性中耳畸形的临床分型及其与耳聋的相关性

目的 探讨先天性中耳畸形的临床分型，以及不同类型的先天性中耳畸形与耳聋的相关性，以利于术前中耳畸形的诊断和术式的选择。方法 回顾性分析解放军总医院1995年3月-2004年5月收治的经手术证实为单纯先天性中耳畸形的病例（64例，82耳）。根据中耳组织胚胎学发育及手术探查中耳畸形情况进行临床分型，统计学检验各型先天性中耳畸形听阈的差异。结果 根据中耳结构组织胚胎学的发育，将先天性中耳畸形分为：A1：先天性锤砧骨畸形；A2：先天性砧镫骨畸形；B型：先天性镫骨固定；C型：先天性前庭窗或蜗窗发育不全或闭锁。听力学检查显示A、B、C3组间在语言频率上差异无统计学意义（P=0．1617），而高频（〉2kHz）的听阈B型及C型与A型均具有统计学意义（P〈0．05），并且B、C型先天性中耳畸形存在骨导下降及混合聋。结论 中耳结构的组织发育来源不同，在临床上不同类型的先天性中耳畸形累及的范围及程度存在很大差异，从而导致不同程度的传导性聋或混合性聋，其听阈不仅决定于听骨链是否完整，还在于畸形的部位和累及的范围。骨导听阈与气导高频听阈有助于鉴别不同类型的先天性中耳畸形。     

Evaluation of hearing organ in patients with Turner syndrome

Hearing loss and middle ear diseases are often reported in some of Turner patients. In most of the reports hearing organ was evaluated with the use of subjective methods. The aim of the work was subjective and objective evaluation of hearing organ with an attempt to set the correlation between the results and the genotype of the patients with Turner syndrome (Ts). MATERIAL: 51 Ts patients aged 14.3 years on average. There were 29 girls with monosomy X and 22 having mosaicism. A detailed medical history was taken in each case with attention given to the hearing loss risk factors. METHOD: Physical ENT examination, hearing evaluation: pure tone audiometry, impedance audiometry, distortion products otoacoustic emissions (DPOAEs), brain auditory evoked potentials (BAEP). The control group consisted of 30 healthy patients. RESULTS: Recurrent acute otitis media was reported by 19.6% of Ts patients. Pure tone audiometry was improper in 36.3% ears; conductive hearing loss was present in 11.7% ears, mixed hearing loss in 5.9% ears and the moderate sensorineural hearing loss in 18.6% ears. Impedance audiometry was impaired in 14.7% of the cases. DPOAE disturbances were present in 41.4% of Ts patients, BAEP was improper in 52.0%. The percentage of the disturbances in DOPAEs and in BAEP in patients with mosaicism was 45.4 and 40.9% while in patients with monosomy 68.9 and 62%. CONCLUSIONS: Ts patients present predisposition to hearing disturbances. The disturbances seem to be connected with middle ear infections and with sensorineural hearing losses. Hearing loss in Ts women is not clinically apparent in most of the cases; this fact reflects the need of early evaluation and further monitoring of hearing organ in those patients. Sensorineural hearing loss seems to prevail in patients with 45,X genotype, so perhaps attention should be paid to this subgroup of Ts patients.     

Hearing loss among patients with Turner's syndrome: literature review

IntroductionTurner's syndrome (TS) is caused by a partial or total deletion of an X chromosome, occurring in 1:2,000 to 1:5,000 live born females. Hearing loss is one of its major clinical manifestations. However, there are few studies investigating this problem.ObjectivesTo review the current knowledge regarding the epidemiology, etiology, clinical manifestations and diagnosis of hearing impairment in patients with TS.MethodsA bibliographic search was performed in the Medline and Lilacs databanks (1980-2012) to identify the main papers associating Turner's syndrome, hearing impairment and its clinical outcomes.ConclusionsRecurrent otitis media, dysfunction of the Eustachian tube, conductive hearing loss during infancy and sensorineural hearing loss in adolescence are the audiologic disorders more common in ST. The karyotype appears to be important in the hearing loss, with studies demonstrating an increased prevalence in patients with monosomy 45,X or isochromosome 46,i(Xq). Morphologic studies of the cochlea are necessary to help out in the clarifying the etiology of the sensorineural hearing loss.     

New patterns in genetic and congenital otonephropathies

In a series of chronic renal and congenitally deaf patients 24 were identified as having inborn renal and otologic disease. Sixteen patients, representing 14 families, had genetic disorders. Only two had the features of Alport's syndrome. The patients were classified as follows: 1) Probable Alport's — 2 patients (1 family); 2) Atypical hereditary nephritis and sensorineural hearing loss — 7 patients; 3) Renal and inner ear anomalies — 1 patient; 4) Renal, inner ear and multiple anomalies — 4 patients. The temporal bone pathology in one case showed primary neural atrophy and a mild Mondini malformation. In another a Scheibe defect and unusual calcific structures were found in the cochlear duct. 5) Renal, external or middle ear and multiple anomalies — 6 patients (5 families); 6) Renal, middle and inner ear anomalies and multiple anomalies — 2 patients. A temporal bone obtained from one case showed combined middle and inner ear defects. In the other, who had a chromosome defect, predominantly middle ear anomalies were found. 7) Nephrotic syndrome and congenital hearing loss — 1 patient; 8) Unclassified — 1 patient. Some cases represent entities apparently not previously described. Probably most interesting is the delineation of hereditary nephritis and deafness distinct from Alport's disease.     

Craniofacial, temporal bone, and audiologic abnormalities in the spectrum of hemifacial microsomia

OBJECTIVES: To evaluate the clinical, audiologic, and temporal bone computed tomograpic findings in patients with hemifacial microsomia and to use the OMENS (each letter of the acronym indicates 1 of the following 5 dysmorphic manifestations: O, orbital asymmetry; M, mandibular hypoplasia; E, auricular deformity; N, nerve involvement; and S, soft tissue deficiency) grading system to assess possible correlations between the severity of dysmorphic features with the type of abnormalities in the temporal bone and with degree of hearing deficit. DESIGN: Retrospective study. SETTING: Tertiary care children's hospital. PATIENT: Forty patients with hemifacial microsomia. RESULT: Mandibular hypoplasia and auricular abnormalities were the most common clinical manifestations, present in 39 patients (97%) and 38 patients (95%), respectively. Conductive hearing loss was noted in 35 patients (86%) and sensorineural hearing loss in 4 patients (10%). Facial nerve weakness was present in 20 patients (50%). Twenty patients had unilateral aural atresia, 12 patients had unilateral aural stenosis, and 7 patients had bilateral anomalies. Moderate hypoplasia or atresia of the middle ear was noted in 36 patients (90%) and ossicles were malformed in 30 patients (75%). Hypoplasia of the oval window was the most common inner ear abnormality. CONCLUSIONS: Severity of craniofacial features (total OMENS score) significantly correlated with the degree of temporal bone abnormality, but no correlation was noted with the degree or type of hearing loss. We recommend the following: (1) use of the OMENS classification system for documentation and analysis of dysmorphic finding in hemifacial microsomia; (2) complete audiologic evaluation in all patients with hemifacial microsomia regardless of the type of craniofacial abnormalities; and (3) temporal bone computed tomography for further evaluation of hearing deficit.     

Otoplast in the middle ear cleft — a rare complication of hearing aid fitting and its surgical management

Hearing aid fitment is a routine, usually safe procedure carried out by hearing aid technicians or even audiologists. Hearing aids are often considered the benign, non-surgical alternative to rehabilitate a patient who cannot be helped surgically. It is rare to have to resort surgery to manage a complication resulting from hearing aid fitting. We report here, a case of otoplast as a foreign body in the middle ear cleft (middle ear cavity and mastoid). The otoplast was used to prepare a mould for the hearing aid and the syringe carrying the otoplast burst splashing the material into the middle ear and the mastoid. This resulted in sudden excruciating pain, further loss of hearing and intractable otorrhea. After several attempts to remove the material elsewhere, our patient underwent a successful mastoid exploration to remove the otoplast resulting in a dry ear after seven years of persistent otorrhea. Patient’s professional requirement for good hearing necessitated a myringoplasty on the other (only hearing) ear. He is now happily rehabilitated with a dry but deaf left ear and a normally hearing right ear.     

Sensorineural Hearing Loss after Vibration: an Animal Model for Evaluating Prevention and Treatment of Inner Ear Hearing Loss

Sensorineural hearing loss following a variety of acoustic trauma, including middle ear surgery, is well known. Current literature, which points to the deleterious influence of noise on the inner ear during surgery, has yet to assess the influence of vibration generated by the burr. The purpose of the study reported here was to establish an animal model that mimics drilling and can be used to explore methods of hearing loss prevention and treatment. A specially developed electromagnetic vibrator was calibrated and used in 59 guinea pigs to induce hearing loss. Both young and old guinea pigs were used. The bony external ear canal of guinea pigs were exposed to vibration or sound of varying duration and intensity. The vibration of the temporal bone and noise level in the middle ear were measured. Electrocochleography was recorded to evaluate the hearing loss. Among the young animals, 90% developed a significant threshold shift (TS &gt;20 dB), when vibrated with 250 Hz at an intensity of 6.2 m/s² for 15 min. An average of 42 dB TS was observed. With 10 min exposure 63% showed a TS. The older animals vibrated for 5 min developed the same TS (mean TS 34 dB) as the young animals when vibrated for 10 min. The vibration-induced TS showed no recovery within 3 days of observation. In the contralateral ear 4 out of 5 animals showed TS&gt;20 dB. When exposed to sound levels exceeding the vibration-generated sound in the middle ear (119 dB at 250 Hz) only 2 out of 11 animals (18%) showed TS. The frequency of TS and level of TS were significantly greater in the vibrated animals than in sound-only exposed animals (p&lt;0.01). The degree of vibration-induced TS in the present animal model could be controlled by vibration intensity and duration. The older animals were more susceptible to vibration-induced inner-ear damage than younger animals. This model will be used in further studies to find methods for prevention and treatment of hearing loss during ear surgery.     

Sensorineural hearing loss after vibration: an animal model for evaluating prevention and treatment of inner ear hearing loss

Sensorineural hearing loss following a variety of acoustic trauma, including middle ear surgery, is well known. Current literature, which points to the deleterious influence of noise on the inner ear during surgery, has yet to assess the influence of vibration generated by the burr. The purpose of the study reported here was to establish an animal model that mimics drilling and can be used to explore methods of hearing loss prevention and treatment. A specially developed electromagnetic vibrator was calibrated and used in 59 guinea pigs to induce hearing loss. Both young and old guinea pigs were used. The bony external ear canal of guinea pigs were exposed to vibration or sound of varying duration and intensity. The vibration of the temporal bone and noise level in the middle ear were measured. Electrocochleography was recorded to evaluate the hearing loss. Among the young animals, 90% developed a significant threshold shift (TS > 20 dB), when vibrated with 250 Hz at an intensity of 6.2 m/s2 for 15 min. An average of 42 dB TS was observed. With 10 min exposure 63% showed a TS. The older animals vibrated for 5 min developed the same TS (mean TS 34 dB) as the young animals when vibrated for 10 min. The vibration-induced TS showed no recovery within 3 days of observation. In the contralateral ear 4 out of 5 animals showed TS > 20 dB. When exposed to sound levels exceeding the vibration-generated sound in the middle ear (119 dB at 250 Hz) only 2 out of II animals (18%) showed TS. The frequency of TS and level of TS were significantly greater in the vibrated animals than in sound-only exposed animals (p < 0.01). The degree of vibration-induced TS in the present animal model could be controlled by vibration intensity and duration. The older animals were more susceptible to vibration-induced inner-ear damage than younger animals. This model will be used in further studies to find methods for prevention and treatment of hearing loss during ear surgery.     

Audiometric features in young adults with Turner syndrome

Objective: Hearing loss (HL) is a known problem in adults with Turner syndrome (TS). The aim of this study was to investigate audiometric features in young adults with TS and the extent of hearing aid provision. Design: Patients were recruited from the Turner centre at Karolinska University Hospital. Analysis of audiograms was made in relation to hearing aid use, a Swedish normal hearing cohort and the need for hearing rehabilitation. Study sample: Sixty-four women with TS aged 25–38 years at the time of their audiological testing. Results: Fifty-two percent had impaired hearing in at least one ear. Sensorineural hearing loss (SNHL) was the most common type of HL, most often characterised by a high-frequency loss and/or a mid-frequency dip. Conductive HL was uncommon in young adults with TS, even though 47 percent were otitis prone as children. Eight of 64 women had previously been fitted with hearing aids. Conclusions: There is undoubtedly a need for hearing rehabilitation in young adults with TS. Questions about hearing must be asked by all doctors treating women with TS to identify those in need for hearing rehabilitation, even if they have an audiogram with a normal pure tone average.     

语前聋患儿一侧人工耳蜗对侧助听器效果分析

目的:通过对人工耳蜗植入对侧耳不同听力损失的患儿联合使用助听器与人工耳蜗语前聋患儿的听觉、语言及学习能力进行评估和比较,探索对患儿更为有效的助听方法,帮助患儿获得最大限度的言语交流。方法:将30例3～6岁语前聋患儿按照植入人工耳蜗对侧耳听力损失程度及是否佩戴助听器,分为一侧人工耳蜗+对侧重度听力损失助听器组(CI+SHA组)、一侧人工耳蜗+对侧极重度听力损失助听器组(CI+PHA组)、单耳人工耳蜗组(CI组)。评估各组在康复3、6、9、12、15、18个月时听觉、语言及学习能力,并记录结果。结果:随着术后康复时间的延长,聋儿听觉、语言及学习能力逐渐提高(P<0.05),CI+SHA组听觉能力优于CI+PHA组及CI组(均P<0.05),语言能力及学习能力无明显差异(P>0.05)。结论:语前聋患儿单耳人工耳蜗植入后,若对侧耳尚有残余听力,佩戴助听器后听觉能力效果显著,长期佩戴有助于患儿的康复。     

Vibrant sound bridge application to middle ear windows versus conventional hearing aids: a comparative study based on international outcome inventory for hearing aids

In this study, we aimed to compare the outcomes of satisfaction of the patients who used hearing aids preceding the vibrant sound bridge (VSB) application on middle ear windows (14 oval window and 5 round window). Nineteen adult patients with conductive or mixed hearing loss were included in the study. All patients used behind the ear hearing aids on the site which was selected for VSB application. The patients used hearing aids for at least 3 months before the VSB operation. The floating mass transducer (FMT) was placed on one of the middle ear windows (oval or round) in VSB operation. The patients were evaluated with International Outcome Inventory for Hearing Aids (IOI-HA) preoperatively after at least 3 months trial of conventional hearing aid and postoperatively after 3 months use of VSB. No perioperative problem was encountered. The total score of IOI-HA was significantly higher with VSB compared with conventional hearing aids (p < 0.05). No statistically significant difference was found between the daily use, residual activity limitations, satisfaction, impact on others, quality of life between middle ear implant and hearing aid (p > 0.05). The IOI-HA scores were significantly higher with the middle ear implant than the conventional hearing aid regarding benefit and residual participation restrictions (p < 0.05). Although the scores for quality of life assessment was similar between VSB and hearing aid use, there was a superiority of VSB in terms of benefit and residual participation restrictions as well as overall IOI-HA scores as the FMT was placed on one of the middle ear windows.     

Hearing loss in divers: a 6-year prospective study

Occupational diving is associated with hearing loss, but the cause is disputed. Our aim was to follow a cohort of divers through the first 6 years of their career in order to look for evidence of permanent threshold shift associated with diving activity, occupational noise exposure or acute injuries. Hearing was measured by pure tone audiometry in 67 participants at a basic course for working divers. Hearing thresholds were adjusted for age (ISO 7029). The subjects were examined and interviewed by an otologist. Additional medical and exposure data were recorded in questionnaires and personal logbooks. The procedure was repeated after 3 and 6 years. None of the subjects suffered inner ear barotrauma or inner ear decompression sickness during follow-up. Middle ear barotrauma was common. The prevalence of subjective hearing difficulties increased during follow-up, and there was a significant threshold shift at 4 kHz (mean 2.6 dB, 95% confidence interval 0.9–4.3 dB). Both subjective and objective hearing loss was associated with occupational noise exposure, but not with diving frequency or with a history of middle ear barotrauma. In the absence of manifest inner ear barotrauma or inner ear decompression sickness, noise seems to be the most important cause of long-term hearing loss in occupational divers. This study did not find evidence of long-term hearing loss caused by uneventful diving per se.     

Hearing and ear status of Pacific children aged 11 years living in New Zealand: the Pacific Islands families hearing study

Objective: This study aimed to determine the prevalence of hearing loss and ear problems in Pacific children, and investigate current and past demographic, health and social factors potentially associated with hearing and ear problems.

Design: A cross-sectional observational study design nested within a birth cohort was employed.

Study sample: Nine-hundred-twenty Pacific children aged 11?years were audiologically assessed. Using average hearing thresholds at 500, 1k and 2k Hz, 162 (18%) right and 197 (21%) left ears had ≥20?dB hearing loss. Hearing loss was mild (20–39?dB) in most cases; 2% of ears had moderate to moderate-severe (40–69?dB) hearing loss. However, only 101 (11%) children had normal peripheral hearing defined by passing hearing threshold, tympanogram and distortion product otoacoustic emission assessments. Those with confirmed middle ear disease at age 2?years had significantly increased odds of a non-Type A tympanogram (adjusted odds ratio: 2.00; 95% confidence interval: 1.56, 2.50) when re-assessed at age 11?years.

Conclusions: Hearing loss, abnormal tympanograms, and auditory processing difficulties were present in many Pacific children. Interventions are also urgently needed to mitigate the effect of the longstanding ear disease likely to be present for many Pacific children.     

A terminal deletion of the short arm of chromosome 3: karyotype 46, XY, del (3) (p25-pter); a case report and literature review

We describe a boy with a deletion of the short arm of chromosome 3; (46, XY, del (3) (p25-pter) who presented several minor craniofacial anomalies at birth. Only 34 cases of small distal 3p deletion have been described in the literature, seven of them showed hearing loss and four of the 34 cases had brain anomalies. But in none of the 34 cases the middle and internal ear were radiographically examined. Despite the severe hearing loss detected by auditory brainstem evoked responses (ABR), computerized tomographic scanning (CT-scan) of the ear showed a normal anatomy in this patient. The head CT-scan and magnetic resonance imaging (MRI) disclosed a hypoplastic corpus callosum and an enlargement of the lateral ventricles.     

External auditory atresia and the deleted chromosome

Four patients presented with suspected hearing loss and growth and motor retardation. Hearing loss was confirmed, and in three patients was conductive in nature, associated with bilateral atresia or hypoplasia of the bony external auditory canal and essentially normal pinnae. One patient had normal ear canals and mixed hearing loss. The patients had a variety of somewhat subtle associated defects. These included epicanthic folds, strabismus, microcephaly, hypertelorism, hypoplasia of the mid-face, carpshaped mouth, short stature, foot anomalies, congenital heart disease and absent IgA. Chromosome analysis showed deletion of the long arm or a ring formation of chromosome 18, which defects are potentially transmissible to the next generation. Petrous pyramid polytomography showed atresia plates in the region of the tympanic membrane in the three patients with abnormal external auditory canals. The middle ears appeared normal. Polytomography was entirely normal in the fourth patient with patent canals and a mixed hearing loss. The patient with “isolated” auditory atresia, retardation, relatively minor facial abnormalities and either previously surgically corrected or previously undetected other abnormalities (e.g., congenital heart disease, club foot), should be suspect for this disorder. The diagnosis is confirmed by karyotype. Complete workup also includes audiometry and petrous pyramid polytomography. Karyotypes should be performed on the parents to rule out a balanced translocation. Otologic management is basically the same as that in other children with external auditory atresia, but may be contingent on the control of other health problems.     

Determinants of Conductive Hearing Loss in Tympanic Membrane Perforation

ObjectivesTympanic membrane perforations are common, but there have been few studies of the factors determining the extent of the resulting conductive hearing loss. The aims of this study were to determine whether the size of tympanic membrane perforation, pneumatization of middle ear & mastoid cavity, and location of perforation were correlated with air-bone gap (ABG) of patients.MethodsForty-two patients who underwent tympanoplasty type I or myringoplasty were included and preoperative audiometry were analyzed. Digital image processing was applied in computed tomography for the estimation of middle ear & mastoid pneumatization volume and tympanic membrane photograph for the evaluation of perforation size and location.ResultsPreoperative mean ABG increased with perforation size (P=0.018), and correlated inversely with the middle ear & mastoid volume (P=0.005). However, perforations in anterior versus posterior locations showed no significant differences in mean ABG (P=0.924).ConclusionThe degree of conductive hearing loss resulting from a tympanic membrane perforation would be expected with the size of perforation and pneumatization of middle ear and mastoid.     

Hearing Preservation With Labyrinthine Ablation in Otitis Media

Objectives Iatrogenic fenestration of the inner ear in the presence of otitis media is commonly associated with permanent hearing loss. Hearing can generally be preserved when the vestibular labyrinth is ablated in a controlled manner in noninflamed ears. The purpose of this study was to examine the feasibility of hearing preservation with violation of the inner ear in the presence of middle ear inflammation. Study Design Prospective and controlled animal model. Methods Otitis media was induced bilaterally in pigmented guinea pigs with transtympanic injection of Streptococcus pneumoniae, nontypeable Haemophilus influenzae, or formalin‐killed nontypeable H influenzae. Two to 4 days after injection, the horizontal canal of one ear was transected and sealed. Hearing was tested before and after labyrinthine ablation. Results Otitis media was induced in all ears. Bacterial cultures were positive in 19 of 20 S pneumoniae–injected ears, and in 10 of 16 nontypeable H influenzae–injected ears. One week after surgery, elevation of click thresholds (> 15 dB) was encountered in none of the fenestrated or unfenestrated S pneumoniae–infected ears, in two of six unfenestrated and three of six fenestrated nontypeable H influenzae–infected ears, and in one of five killed‐nontypeable H influenzae– injected ears both with and without fenestration. Conclusions These data suggest that ablation of a semicircular canal in the presence of middle ear inflammation or infection does not necessarily lead to profound sensorineural hearing loss. Hearing loss associated with iatrogenic violation of the semicircular canals may be more dependent on factors other than the presence of nonspecific middle ear inflammation.     

CHARGE综合征患者颞骨影像和临床特点

目的CHARGE综合征是一种以耳部畸形耳聋为主要表现、已被广泛认可的多系统畸形综合征,国内仅有散在个案报道。本研究旨在探讨CHARGE患者的耳科临床特点、诊断及相关治疗经验。方法以CL Hale2016年所提出的诊断标准为依据,回顾分析2018年2月-2019年9月我科收治的耳科患者病情资料,总结CHARGE综合征患儿的临床表现、听力学表现和颞骨影像学表现。结果共发现6例患者。其中男3例,女3例,年龄1岁2月~16岁,中位年龄9.8岁。患者均因耳聋就诊,行走平衡发育障碍,基因检测CHD7基因病理性突变。合并耳部结构畸形类型及比例依次为:半规管及前庭发育不良100%(12/12)、耳蜗畸形83.3%(10/12)、听神经发育不良83.3%(10/12)、听骨链畸形58.3%(7/12)、耳廓结构或形态畸形58.3%(7/12)、分泌性中耳炎50%(6/12)、异常乳突导静脉50%(6/12)。1例为传导性耳聋接受单侧鼓室成型术,4例为极重度耳聋接受人工耳蜗植入手术,1例极重度耳聋患者因较为严重的心脏疾病暂时未能接受人工耳蜗植入手术。上述患者均合并其他系统发育畸形:先天性心脏病5例、眼部脉络膜缺损或视神经发育不良4例、后鼻孔闭锁1例、多指畸形1例、性腺发育不良1例。结论先天性耳聋患者的颞骨CT提示半规管前庭发育不良时,如果患者合并耳廓形态结构畸形或眼、鼻、心脏等畸形,医生应考虑到CHARGE综合征的可能性。结合基因诊断技术,有助于早期诊断并制定合理的治疗方案。