Audiological findings in large vestibular aqueduct syndrome

An enlarged vestibular aqueduct is a congenital disorder causing early onset and progressive hearing loss in children. This paper presents the audiological findings at first presentation and the audiological evolution in 10 consecutive cases presenting with hearing loss and showing a large vestibular aqueduct on imaging. The reported onset of the hearing loss is within the first few years of life. Most of the cases (80%) showed bilateral involvement. The sex ratio was 1. Patients presented on average at age 5 with a median hearing loss of 62 dB at the speech frequencies. The hearing loss was essentially asymmetrical with an interaural difference, of 33 dB and it was a mixed type of hearing loss in 90% of the cases. The authors claim that the conductive component of this hearing loss is a pure cochlear conductive loss which may be pathognomonic for the disease. The presence of a conductive component in a child is easily misinterpreted as a middle ear ventilation problem or in case of good ventilation as an ossicular problem (type otosclerosis). In addition and in contrast to most literature data, the authors did not find evidence for stabilization of the hearing loss but they found a steady decrease of the hearing at an average rate of 4 dB/year.     

Pendred's syndrome. Acoustic, vestibular and radiological findings in 17 unrelated patients

Seventeen unrelated Danish patients with Pendred's syndrome, whose case stories have not been published previously, are presented. Acoustic and vestibular functions were examined and endocrinological screening was performed. There was a great variation in hearing ability as well as in thyroid function. Furthermore, in contrast to previous investigations, normal caloric function was demonstrated in the majority. In all patients a Mondini malformation was demonstrated. On the basis of this investigation it is concluded that: (1) the Mondini defect is part of Pendred's syndrome; (2) the inherited Mondini malformation is the underlying cause of the sensorineural hearing impairment; and (3) the hearing sensitivity varies greatly in these patients.     

Audiological and vestibular function tests in hypothyroidism

A battery of audiological and vestibular function tests have been performed in 72 cases of confirmed hypothyroidism. The severity of hypothyroidism was graded as mild, moderate or severe depending upon serum protein-bound iodine estimation. The incidence of hearing impairment, tinnitus and vertigo was correlated with the severity of the disease process. The site of lesion causing sensorineural hearing impairment in 25 cases was pinpointed audiologically.     

Olfactory neuroblastoma associated with Kallman's syndrome.

Kallman's syndrome is an unusual clinical entity that includes anosmia and hypogonadotropic hypogonadism. We present a patient in whom an olfactory neuroblastoma was discovered during evaluation of his Kallman's syndrome. While other craniofacial abnormalities have been associated with this condition, to our knowledge this is the first report of its association with olfactory neuroblastoma.     

Audiological and vestibular findings in 219 cases of meningitis

Summary The audiological and electronystagmographic follow-up results of 219 children with different forms of meningitis are presented. The findings for hearing loss are roughly comparable with those of earlier reports. There have been no previous systematic studies on children with meningitis. Our electronystagmographic results show continuous nystagmus, evenly distributed in different aetiological groups, in 26 patients (12%), directional preponderance in 11 patients (5%) and canal paresis in three patients (1.5%). Disconjugate eye movements indicating a possible brain-stem lesion were observed in seven patients (3%). Eye movements were registered individually for both eyes. None of our patients had clinically significant vertigo. The electronystagmographic findings did not appear with hearing loss, indicating that vestibular disorders may develop independently. Our results support the view that electronystagmography should be performed routinely on every child who has had meningitis.     

Audiological assessment in Ramsay Hunt syndrome.

Ramsay Hunt syndrome is known to cause symptoms and signs of vestibulocochlear dysfunction, including sensorineural hearing loss. The present study investigates the audiological features of a group of 15 patients with this syndrome. A complete otolaryngological, neurologic, and audiological workup was performed in every patient, including auditory brain stem response measurements and recording of transiently evoked otoacoustic emissions. In most patients, some degree of hearing loss was evident, and abnormal latencies and interpeak latencies of the auditory brain stem response, or even absence of the waves, were observed. Transiently evoked otoacoustic emissions were present in only 6 cases, and caloric tests showed unilateral weakness in the majority of the patients. In all of the performed tests, abnormalities were present only on the affected side. The audiological data suggested cochlear or retrocochlear involvement or involvement at more than one site along the auditory pathway.     

Audiological findings in Noonan syndrome

ObjectivesThe aim of this study was to evaluate audiologic properties of patients with Noonan syndrome and compare these findings with those of unaffected peers.MethodsThe study included 17 children with Noonan syndrome and 20 typically developing children without Noonan syndrome. Pure tone and speech audiometry, immitancemetric measurement, otoacoustic emissions measurement and auditory brainstem response tests were applied to all (n = 37) children.ResultsHearing thresholds of children with Noonan syndrome were higher (poorer) than those observed unaffected peers, while the hearing sensitivity of the both groups were normal limits (p = 0.013 for right, p = 0.031 for left ear). Transient evoked otoacoustic emissions amplitudes of the children with Noonan syndrome were lower than the children without Noonan syndrome (p = 0.005 for right, p = 0.002 for left ear). Middle ear pressures and auditory brainstem response values were within normal limits and there was no difference between the two groups (p > 0.05).ConclusionGeneral benefit of the present study is to characterize the audiologic findings of children with Noonan syndrome, which is beneficial in clinics evaluating children with Noonan syndrome.     

Audiological range in Turner's syndrome

Turner's syndrome is generally characterised by bilateral gonadal disgenesis, short stature and inadequate sexual development secondary to anomalous karyotype. The purely otorhinolaryngoiatric pathology considerably influences the symptomatological features in Turner's subject and this is based on possible morphologically structured anomalies in the external, middle and inner ear, but also on the oral cavity and pharynx. From this there is evidence of otological emergence on a phlogistic infectious basis with remarkable long-term repercussion on the hearing process. Otofunctional evaluation in 21 Turner's syndrome patients shows predominance of conductive hearing loss (42.8%), proven through evidence of otitis media (33.3%) and chronic otitis media (9.5%). This, therefore, demands an attentive audiologic monitoring related to the possible development of chronic forms or cholesteatoma and the possible rehabilitative-prothesis procedure.     

一个中国DFNA9家系的听力学及前庭功能特点

目的 分析携带COCH基因新突变的一个中国DFNA9家系成员的听力学及前庭功能特点.方法 对家系成员进行详尽的听力学及前庭功能检查,包括纯音测听、听性脑干反应、耳蜗电图;视眼动、冷热试验、旋转试验、前庭诱发性肌源性电位,评价有无听力及前庭损害.结果 该家系患者听力学检查表现为以高频下降为主的进行性感音神经性聋;前庭功能检查正常.结论 中国DFNA9家系的所有vWFA2结构域突变携带者一生中均无前庭障碍的症状,详尽的前庭功能检查正常.中国DFNA9家系的临床资料分析表明DFNA9存在基因型和表现型的相关性.     

Audiological features of Turner's syndrome in adults

Abnormalities of the ear and hearing are well recognized in Turner's syndrome (TS), which is one of the most common chromosomal abnormalities. Presented here are the preliminary data from a UK study of the audiological features of 113 women over the age of 16 years with TS. Seventeen per cent had normal hearing. 19% had conductive or mixed loss, and 47% had sensorineural hearing loss associated with the TS. The results are discussed with reference to previously published studies and to the lack of consensus on comparative definitional terms in audiology.     

Audiological features of Turner's syndrome in adults

Abnormalities of the ear and hearing are well recognized in Turner's syndrome (TS), which is one of the most common chromosomal abnormalities. Presented here are the preliminary data from a UK study of the audiological features of 113 women over the age of 16 years with TS. Seventeen per cent had normal hearing, 19% had conductive or mixed loss, and 47% had sensorineural hearing loss associated with the TS. The results are discussed with reference to previously published studies and to the lack of consensus on comparative definitional terms in audiology.     

The narrow vestibular aquaeduct. An unspecific radiological sign?

Tomography of the vestibular aquaeduct was carried out in patients with Ménière's disease, patients with chronic otitis and in patients without ear disorders. Visualization of the vestibular aquaeduct was evaluated blindly. The descending part of the aquaeduct was clearly visible in 95% of patients without ear disease. In the other groups, including contralateral non-affected ears in Ménière patients, the aquaeduct was clearly visible in only about 50%. The incidence of narrow or invisible aquaeducts in ducts in Ménière patients and in patients with chronic otitis was essentially the same. This radiologic finding seems to be an unspecific sign, present possibly in a variety of ear disorders.     

儿童Alport综合征的听力学特征多样性研究

目的探讨儿童Alport综合征(Alport Syndrome AS)听力学特点多样性及预后。方法分析2007-2013年北京儿童医院确诊的43例AS患者的听力学特点,病理改变及临床特点并进行电话随访,并进行统计学分析。结果 43例诊断为AS儿童中男性36例,女性7例,年龄22个月-13岁,中位数年龄8岁,听力正常组33例,听力异常组10例。123.2%AS患儿合并感音神经性聋,并且全部为男性,中度聋最常见占70%;2听力曲线图包括谷型7例(70%)、陡降型2例(20%)、平坦型1例(10%);其中有30%听力曲线呈非对称分布;3比较耳听力正常组及耳听力异常组肾脏病理间差异性,存在耳部症状的患者,电镜足突病变较重,两组间差异有统计学意义;4电话回访发现正常听力组有近1/3的受访者诉听力有下降,而全部听力异常组的受访者听力进行性下降,1例重度听力损失患儿发展为终末期肾病结论耳部病变是AS的常见症状,其听力曲线多样,并有部分呈非对称分布,儿童期听力损失呈进行性下降趋势,听力异常是显著足细胞病变一个指标。     

Audiological manifestations of Ramsay Hunt syndrome

Ramsay Hunt syndrome is known to cause audiological signs and symptoms, including sudden, unexpected hearing loss. We carried out a retrospective review of the audiological manifestations of 186 patients with Ramsay Hunt syndrome, measuring their hearing loss patterns, hyperacusis, tinnitus, herpetic rash, facial paralysis, pain and vertigo. Statistical correlations of these parameters were equated with prognosis. Prognosis for eventual hearing recovery is, in general, excellent. Prognostic indicators of poor hearing recovery include advanced age, retrocochlear hearing loss, male gender, vertigo, and speech frequency hearing loss.     

Audiological and radiological characteristics of a family with T961G mitochondrial mutation

Abstract

Objective: The aim of this study was to describe audiological and radiological characteristics, and other secondary aspects, in a family carrying a T961G mutation in the 12S rRNA mitochondrial gene. Design: Case report. Study sample: Six members of a family participated in an audiological evaluation that included pure-tone audiometry, immittance tests, auditory brainstem responses (ABR), and otoacoustic emissions (OAE). The radiological evaluation was conducted through temporal bone CT scans using a Toshiba 16 channels Aquilon Spirale. Neuropsychiatric evaluation was also administered. Results: Three participants were diagnosed with severe sensorineural hearing loss of cochlear origin and cochlear malformations visible in CT scans. One participant had a mild mixed-hearing loss and no cochlear malformations. Two participants had normal audiological and radiological findings. Conclusions: We believe our study can provide helpful insight on the clinical findings of a rare mutation, of which few data have been presented in literature.     

Audiological findings,genotype and clinical severity score in Cornelia de Lange syndrome

Objective

Cornelia de Lange syndrome (CdLS) is a rare multisystem disorder in which hearing loss (HL) has been reported. However, no data are available concerning the association between audiological findings, clinical severity score and genotype.

Methods

The study involved 44 pediatric patients aged 1–18 years with a confirmed diagnosis of CdLS, all of whom underwent a full otolaryngological and audiological examination. The presence of NIPBL and SMC1 mutations was also evaluated.

Results

According to the severity of clinical phenotypes, 12 (27.3%) children were mild, 15 (34.1%) were moderate and 17 (38.6%) were severe. Thirty-eight children (86%) had OME. Eight children had normal hearing, including one (12.5%) with a severe phenotype. Bilateral sensorineural hearing loss (SNHL) was diagnosed in 10 children (22.7%): the degree of HL was severe in 8 (80%), all with a severe phenotype. Conductive hearing loss (CHL) was present in 26 patients (59.1%), of whom 8 (30.8%) had a severe phenotype. A severe phenotype was more prevalent among the patients with moderate to severe HL (10/16, 62.5%) than among those with slight/mild HL or normal hearing (7/28, 25.0% p = 0.013). NIPBL mutations were detected in 22 patients (50%): 13 (59.1%) with truncating mutations, four (18.2%) with missense mutations, and five (22.7%) with splicing mutations. The frequency of NIPBL truncating mutations was similar in the children with SNHL and those with CHL, whereas this kind of mutation was not found in children with normal hearing.

Conclusion

Together with SNHL, CHL is an important cause of HL in children with CdLS, and can be associated with a severe phenotype. Moreover, CHL can be associated with NIPBL mutations, particularly truncating mutations. These results highlight the importance of the early identification of audiological problems in children with CdLS and their precise genetic characterization.     

Evolution of vestibular schwannoma: radiological evaluation

Objective evaluation of natural history of vestibular schwannomas can be performed based on the modern radiological investigations, mainly MR. This study included 7 vestibular schwannomas. The average observation period was 28 months. Tumor growth was calculated based on the comparison of volume on the first and subsequent MR image using a special dedicated software. All tumors in this study were growing. The average growth rate was 143 mm3/month. Among 7 primarily observed tumors, 4 schwannomas were already removed surgically. The remaining 3 tumors are still observed. The authors pointed out that longer were the radiological observations of vestibular schwannomas greater was the conviction about progression of majority of these tumors.     

"Across the board" posturography abnormalities in vestibular injury.

OBJECTIVE: To analyze a newly defined group of Computerized Dynamic Posturography abnormalities and to determine if these patients' abnormalities are of vestibular origin. STUDY DESIGN: Analysis of results drawn from our larger study of two groups of sequentially referred patients complaining of dizziness and/or imbalance. SETTING: A tertiary and quaternary care ambulatory referral centre. PATIENTS: Two groups of patients were studied. One was a group of patients who had suffered work-related head trauma and had subsequent complaints of dizziness and/or imbalance. The other was a group of patients referred for dizziness and/or imbalance who had no history of head trauma, work related injury. or litigation procedures. INTERVENTIONS: Standard vestibular assessment including Computerized Dynamic Posturography was carried out on all patients. MAIN OUTCOME MEASURES: CDP results of all patients were reanalyzed and all results were pulled which were abnormal on at least 5 of 6 sensory conditions. All results were analyzed using a quantitative method of detecting malingering and also using our newly developed nine point subjective/objective criteria scale. RESULTS: While the standardized formulae categorized most of these results as "aphysiologic," our nine-point protocol showed most of the patients to be legitimate. CONCLUSIONS: These results represent a legitimate subgroup of vestibular patients that we feel have been more or less unrecognized, many of whom are incapacitated by imbalance and disorientation. These results also are helpful in measuring safety of these patients in the workplace.