A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred.

Skeletal dysplasias (SDs) are highly heterogeneous disorders composed of 40 clinical sub-types that are part of 456 well-delineated syndromes in humans. Here, we enrolled consanguineous kindred from a remote area of Sindh province of Pakistan, with 14 affected individuals suffering with short stature, kyphoscoliosis, joint dislocations, clubfoot, heart valve anomalies and progressive bilateral mixed hearing loss. To identify pathogenic variants in this family, whole exome sequencing (WES) was performed in one affected and one normal individual, which revealed a novel transversion mutation (c.802G>T; p.Glu268*) in CHST3 associated with the phenotype. CHST3 encodes a chondroitin 6-O-sulfotransferase-1 (C6ST-1) enzyme that is essential for the sulfation of proteoglycans found in cartilages. Previously, mutations in CHST3 have largely been reported in sporadic cases of SD, primarily with severe spinal abnormalities, joint dislocations, joint contractures, and clubfoot. Clinical and radiological examination of the affected individuals in this family provides new insights into phenotypic spectrum of CHST3 alleles and disease progression with age.

Hearing preservation after cochlear implantation using deeply inserted flex atraumatic electrode arrays.

The aim of this study was to investigate hearing preservation in adults receiving cochlear implants with Flex arrays. Fifteen adults (19 ears) implanted with Flex EAS® (n = 4) or Flex Soft® (n = 15; MedEL, Innsbruck, Austria) were included in this retrospective study. The mean array insertion length was 25 ± 0.9 mm (n = 19), and the mean cochlear coverage was 435 ± 14.5° (n = 19), with no difference between EAS and Soft arrays. Residual low-frequency hearing was preserved in all implanted ears but deteriorated [pure-tone average (125-1000 Hz) 55.1 ± 2.90 dB before vs. 81.0 ± 3.02 dB after surgery (n = 19, p < 0.01)]. Both Flex arrays allow deep insertion with reproducible hearing preservation.

Scalar Translocation Comparison Between Lateral Wall and Perimodiolar Cochlear Implant Arrays - A Meta-Analysis.

OBJECTIVES/HYPOTHESIS: Two types of electrode arrays for cochlear implants (CIs) are distinguished: lateral wall and perimodiolar. Scalar translocation of the array can lead to intracochlear trauma by penetrating from the scala tympani into the scala vestibuli or scala media, potentially negatively affecting hearing performance of CI users. This systematic review compares the lateral wall and perimodiolar arrays with respect to scalar translocation. STUDY DESIGN: Systematic review. METHODS: PubMed, Embase, and Cochrane databases were reviewed for studies published within the last 11 years. No other limitations were set. All studies with original data that evaluated the occurrence of scalar translocation or tip fold-over (TF) with postoperative computed tomography (CT) following primary cochlear implantation in bilateral sensorineuronal hearing loss patients were considered to be eligible. Data were extracted independently by two reviewers. RESULTS: We included 33 studies, of which none were randomized controlled trials. Meta-analysis of five cohort studies comparing scalar translocation between lateral wall and perimodiolar arrays showed that lateral wall arrays have significantly lower translocation rates (7% vs. 43%; pooled odds ratio = 0.12). Translocation was negatively associated with speech perception scores (weighted mean 41% vs. 55%). Tip fold-over of the array was more frequent with perimodiolar arrays (X2  = 6.8, P < .01). CONCLUSIONS: Scalar translocation and tip fold-overs occurred more frequently with perimodiolar arrays than with lateral wall arrays. In addition, translocation of the array negatively affects hearing with the cochlear implant. Therefore, if one aims to minimize clinically relevant intracochlear trauma, lateral wall arrays would be the preferred option for cochlear implantation. Laryngoscope, 131:1358-1368, 2021.

Obstructive ureteric calculus with superimposed infections causing reversible posterior leukoencephalopathy syndrome: A case report.

RATIONALE: Reversible posterior leukoencephalopathy syndrome (RPLS) is a clinicoradiological phenomenon first observed 2 decades ago. Reversibility is the hallmark of this rare clinical phenomenon once the triggering pathology is aptly and adequately treated. Tinnitus preceding bilateral hearing loss as a symptomatology of RPLS has not been reported in the literature. Furthermore, chronic obstructive ureteric calculus with superimposed infections as a cause of RPLS has not been reported in the literature. PATIENT CONCERNS: A 57-year-old female was admitted at our facility because of 2 days history of hearing loss in both ears. She experienced tinnitus in both ears 2 weeks prior to the hearing loss. She is a known hypertensive. She has also undergone multiple surgical treatments for urinary calculi. DIAGNOSIS: Computed tomography (CT) scan of the urinary system revealed a calculus at the right ureter. Magnetic resonance imaging (MRI) showed abnormal signals at both temporo-parieto-occipital (TPO) cortices, the subcortical area, as well as the left hippocampus which was consistent with the diagnosis of RPLS. INTERVENTIONS: While on antibiotics for treatment of infections, the patient went into hypertensive encephalopathy and pneumonia was also established necessitating intensive care. OUTCOMES: We observed a resolution of the patient's temperature and hypertension when the right ureteric stone finally descended into the bladder. Also, we observed disappearance of the abnormal signals at both TPO cortices, the subcortical area, as well as the left hippocampus. Two years follow-up revealed no recurrence of her symptomatology. LESIONS: Patients who present with hypertensive encephalopathy maybe more prone to developing RPLS. Renal insufficiency alone or hypertension alone may not be single predisposing entities to RPLS but rather multiple predisposing factors.

Electric acoustic stimulation of the auditory system: experience and results of ten patients using MED-EL's M and FlexEAS electrodes.

OBJECTIVE: To evaluate the hearing preservation rate and speech perception scores in patients with profound high frequency hearing loss and acoustically aidable low frequency hearing, managed with the MED-EL electric acoustic stimulation system referenced to the insertion depth of the electrode array. STUDY DESIGN: Retrospective data analysis. PARTICIPANTS AND SETTING: Ten patients implanted at the Auditory Implant Centre, Guy's and St Thomas's Hospital, London, UK. MAIN OUTCOME MEASURES: Pure tone audiometry, speech perception tests and electrode insertion depth angle. RESULTS: Postoperatively, functional hearing preservation allowing electric acoustic stimulation was achieved in eight patients and total preservation of residual hearing in five patients with follow-up periods of more than 12 months. Three of four (75%) patients with an insertion depth of >360 degrees had a threshold shift of >25 dB, and all four patients had a threshold shift of >10 dB. All patients with total hearing preservation had the electrode inserted up to 360 degrees at maximum. Overall, speech perception outcomes increased significantly and hearing impairment was significantly reduced after electric acoustic stimulation or electric stimulation alone as compared with the preoperative scores. CONCLUSION: Electric acoustic stimulation provides significant benefit to individuals with profound high frequency hearing loss. Studies with larger number of patients are needed to establish the optimal electrode insertion angle as well as to further analyse the benefit of electric acoustic stimulation.

Evaluation of the outcome of CT and MR imaging in pediatric patients with bilateral sensorineural hearing loss.

OBJECTIVE: To evaluate the clinically relevant abnormalities as visualized on CT and MR imaging in children with symmetric and asymmetric bilateral sensorineural hearing loss (SNHL), in relation to age and the severity of hearing loss. STUDY DESIGN: Retrospective cohort study. SETTING: Tertiary referral otology and audiology center. PATIENTS AND DIAGNOSTIC INTERVENTIONS: From January 2006 until January 2016, a total of 207 children diagnosed with symmetric and asymmetric bilateral SNHL were included. They underwent CT and/or MR imaging for the evaluation of the etiology of their hearing loss. MAIN OUTCOME MEASURES: Radiologic abnormalities associated with SNHL. RESULTS: 302 scans were performed in 207 children (median age of 0.8 years old) with bilateral SNHL. The most frequently identified cause of bilateral SNHL was a malformation of the labyrinth. The combined diagnostic yield of CT and MR imaging was 32%. The diagnostic yield of MR (34%) was considerably higher than that of CT (20%). We found a higher rate of abnormalities in children with profound hearing loss (41%) compared to milder hearing loss (8-29%), and in asymmetric SNHL (52%) compared to symmetric SNHL (30%). CONCLUSION: Imaging is essential in the etiologic evaluation of children with bilateral SNHL. The highest diagnostic yield is found in children with bilateral asymmetric SNHL or profound SNHL. Based on our findings, MR is the primary imaging modality of choice in the etiological evaluation of children with bilateral SNHL because of its high diagnostic yield.

Duplicated internal auditory canal with inner ear malformation: Case report and literature review.

Internal auditory canal anomalies are rare. Narrow internal auditory canal is believed to occur as a result of aplasia or hypoplasia of the vestibulocochlear nerve. Narrow duplication of the internal auditory canal is considered to be very rare. Narrow duplication of the internal auditory canal with inner ear malformation has been reported in only 3 cases. We present 2 cases of narrow duplication of the internal auditory canal with inner ear malformation. The first case had inner ear malformation on only one side and the second case had inner ear malformation on both sides. The embryogenesis may be different between internal auditory canal and inner ear.

Case Report: Neurobrucellosis with Plastered Spinal Arachnoiditis: A Magnetic Resonance Imaging-Based Report.

Diffuse spinal arachnoiditis in neurobrucellosis is a rare manifestation. We report a boy aged 17, presenting with hearing impairment and recurrent vomiting for 18 months, weight loss for 12 months, dysphagia, dysarthria, hypophonia for 6 months, and gait unsteadiness for 5 months. He had bilateral 5th (motor) to 12th cranial nerve palsy, wasting and weakness of limbs, fasciculations, absent tendon reflexes, and positive Babinski's sign. Cerebrospinal fluid (CSF) showed raised protein and pleocytosis. Magnetic resonance imaging (MRI) showed extensive enhancing exudates in cisterns and post-contrast enhancement of bilateral 5th, 6th, 7th, and 8th nerves. Spine showed clumping with contrast enhancement of the cauda equina roots and encasement of the cord with exudates. Serum and CSF were positive for anti-Brucella antibodies. He showed significant improvement with antibiotics. At 4 months follow-up, MRI demonstrated near complete resolution of cranial and spinal arachnoiditis. It is important to recognize such rare atypical presentations of neurobrucellosis.

Rubinstein-Taybi syndrome and mixed bilateral hypoacousia case report.

OBJECTIVE: To describe a case of Rubinstein-Taybi syndrome (RTS) in association with mixed bilateral hypoacousia. PATIENT: A 10-year-old boy presented at a private otology practice center in Bogotá, Colombia, with signs and symptoms of RTS. In addition, the patient presented with mixed bilateral conductive hypoacousia, predominantly in the left ear with a 40- to 50-dB conductive component, caused by middle ear malformations and fixation of the ossicular chain and stapes footplate. INTERVENTION: The patient underwent a left exploratory tympanotomy and then a stapedotomy. MAIN OUTCOME MEASURES: Computed tomography, genetic evaluation, and audiologic testing. RESULTS: Postoperative recovery was normal. There was closure of the conductive gap (< or =10 dB) with improvement of subjective hearing. CONCLUSION: We presented a case of a patient with RTS and bilateral mixed hypoacousia who underwent a stapedotomy with a final improvement in his hearing performance. We consider it important to report and describe the simultaneous presence of these pathologic findings and to be able to analyzeif these otologic findings are coincidental or truly associated with RTS.

Improvement of sudden bilateral hearing loss after vertebral artery stenting.

Bilateral deafness is a rare but possible symptom of vertebrobasilar ischemia. We report a case of sudden bilateral sensorineural hearing loss caused by bilateral vertebral artery (VA) occlusion which dramatically improved after stenting. A 54-year-old man was admitted with sudden onset of bilateral deafness, vertigo, and drowsy mental status. Brain diffusion-weighted MRI showed acute infarction involving both the posterior inferior cerebellar artery and left posterior cerebral artery territory. Cerebral angiography showed bilateral distal VA occlusion, and emergency intracranial stenting was performed in the left VA. After reperfusion therapy his symptoms gradually improved, including hearing impairment. Endovascular stenting may be helpful in a patient with sudden deafness caused by bilateral VA occlusion.

Malformation of the eighth cranial nerve in children. / Malformaciones del octavo par en niños.

INTRODUCTION AND OBJECTIVES: Prevalence of congenital sensorineural hearing loss (SNHL) is approximately 1.5-6 in every 1,000 newborns. Dysfunction of the auditory nerve (auditory neuropathy) may be involved in up to 1%-10% of cases; hearing losses because of vestibulocochlear nerve (VCN) aplasia are less frequent. The objectives of this study were to describe clinical manifestations, hearing thresholds and aetiology of children with SNHL and VCN aplasia. METHODOLOGY: We present 34 children (mean age 20 months) with auditory nerve malformation and profound HL taken from a sample of 385 children implanted in a 10-year period. We studied demographic characteristics, hearing, genetics, risk factors and associated malformations (Casselman's and Sennaroglu's classifications). Data were processed using a bivariate descriptive statistical analysis (P<.05). RESULTS: Of all the cases, 58.8% were bilateral (IIa/IIa and I/I were the most common). Of the unilateral cases, IIb was the most frequent. Auditory screening showed a sensitivity of 77.4%. A relationship among bilateral cases and systemic pathology was observed. We found a statistically significant difference when comparing hearing loss impairment and patients with different types of aplasia as defined by Casselman's classification. Computed tomography (CT) scan yielded a sensitivity of 46.3% and a specificity of 85.7%. However, magnetic resonance imaging (MRI) was the most sensitive imaging test. CONCLUSIONS: Ten percent of the children in a cochlear implant study had aplasia or hypoplasia of the auditory nerve. The degree of auditory loss was directly related to the different types of aplasia (Casselman's classification) Although CT scan and MRI are complementary, the MRI is the test of choice for detecting auditory nerve malformation.

Pontine Tegmental Cap Dysplasia: MR Evaluation of Vestibulocochlear Neuropathy.

Pontine tegmental cap dysplasia (PTCD) is recently recognized as a rare congenital brain stem malformation with typical neuroimaging hallmarks of ventral pontine hypoplasia and vaulted pontine tegmentum projecting into the fourth ventricle. PTCD patients also demonstrate variable cranial neuropathy with predilection for involvement of the vestibulocochlear and facial nerves. We present a case of PTCD diagnosed on MRI in the neonatal period. During early infancy, the patient displayed features of multiple cranial neuropathies and bilateral hearing loss. At the age of 2, the patient underwent further MRI assessment with dedicated high resolution T2 SPACE sequence to delineate the cranial nerve deficiencies.

CT of the temporal bone in a patient with osteopathia striata and cranial sclerosis.

The authors present a case of congenital dysplasia affecting the long bones, skull, and other systems in a 7-year-old girl, with special attention to CT of the temporal bone, which showed abnormal ossicle fixation, a narrowed Eustachian canal, thickened sclerotic bone, and a small mastoid antrum and middle ear cavity. CT of the temporal bone can help one distinguish the etiologies of hearing loss associated with this disorder.

Absence of the common crus in Goldenhar syndrome.

We describe an unusual labyrinthine malformation in a case of Goldenhar syndrome studied with CT and steady-state MR imaging. A single posterosuperior semicircular canal was found with no common crus formation. The malformation could not be attributed to any embryologic development. Nosologic considerations are discussed.

Bilateral petrous internal carotid artery pseudoaneurysms presenting with sensorineural hearing loss.

We present a case of an 85-year-old woman with a 40-year history of progressive bilateral sensorineural hearing loss. Imaging studies demonstrated bilateral pseudoaneurysms of the petrous portion of the internal carotid arteries eroding into both cochleas. To our knowledge, this is the first case report of such lesions.

Differences in regional cerebral blood flow during musical and verbal hallucinations.

A 51-year-old male patient suffered from both musical and verbal hallucinations with insight. We performed three single photon emission computed tomographic scans with the patient in different conditions: baseline without hallucinations, musical hallucinations, and verbal hallucinations. Clearly, different patterns of regional cerebral blood flow (rCBF) were observed during musical and verbal hallucinations. The findings suggest that musical and verbal hallucinations are associated with different patterns of rCBF, possibly reflecting the different causes of the two types of hallucinations.

Computed tomography: how accurate a predictor for cochlear implantation?

Cochlear implantation is an accepted medical treatment for profound bilateral postlinguistically acquired hearing loss. Because cochlear implants are still in the process of development, a detailed evaluation of the results of implantation is essential. However, the capability of predetermining the auditory benefit of a cochlear implant is limited and depends upon a number of factors. This report focuses upon the ability of computed tomography (CT) to predict surgical success and audiological results of multichannel cochlear implantation. It also addresses how the disease state might affect the functional benefit of the implant. After undergoing routine clinical and audiological evaluations, 28 cochlear implant candidates underwent CT scans in order to evaluate cochlear patency prior to surgery. Subsequently, 24 patients were implanted with either a single-or 22-channel device. Surgical findings were noted and postoperative audiological assessments of sound detection and speech discrimination were made. The CT risk factors that diminish the likelihood of a successful cochlear implant result are discussed based upon a retrospective comparison of preoperative CT results, surgical findings, and postsurgical audiological evaluations of the 14 patients who received a 22-channel implant. Analysis of the predictive capability of CT will allow clinicians to use that procedure more effectively in the presurgical assessment of cochlear implant candidates.

Computed tomography and magnetic resonance imaging in the preoperative work-up for cochlear implantation.

The role of CT and MRI in the evaluation of patients for possible insertion of a multichannel intracochlear hearing device was appraised. The study included 52 patients who underwent both CT and MRI examinations, 40 of whom were later operated on. Coronal and axial T2-weighted spin-echo sequences were performed in 25 volunteers with normal hearing and in 47 adult patients. In 5 patients, instead of a T2-weighted spin-echo sequence, a T2*-weighted gradient echo 3D sequence with axial presaturation was used. In 39 patients with normal appearances on CT and MRI, the implant device was successfully inserted. One patient who underwent surgery had a reduced cochlear signal on MRI but a normal CT scan; however, at surgery, the implant device could only be inserted into the first turn of the cochlea, due to fibrous obliteration. In 3 of 12 patients who were not operated upon, the results of diagnostic imaging indicated that the insertion of an intracochlear hearing device was not useful. Our experience indicates that, with reduced cochlear fluid signal intensities on MRI, fibrous obliteration of the cochlear turns is likely to be present. MRI proved to be a useful adjunct to CT, but the latter was necessary for the evaluation of bony abnormalities. Gradient echo sequences can successfully replace time-consuming T2-weighted spin-echo sequences.

Unpartitioned versus incompletely partitioned cochleae: radiologic differentiation.

OBJECTIVE: In the process of evaluating our patients, we realized that the term "Mondini deformity" was being used to describe two different types of incomplete partition of the cochlea. THE First one consisted of an unpartitioned, completely empty cochlea where the interscalar septum and entire modiolus were absent, giving the cochlea a cystic appearance; a grossly dilated vestibule accompanied this lesion. The second pathology fitted the classic description of Mondini deformity, consisting of a normal basal turn and cystic apex (where the middle and apical turns form a cystic cavity), dilated vestibule, and enlarged vestibular aqueduct. This study was planned to investigate the differences between the two types of incomplete partition for inner ear malformations based on radiologic features. STUDY DESIGN: We conducted a retrospective review of temporal bone computed tomography (CT) findings. METHODS: The subjects were 18 patients with profound bilateral sensorineural hearing loss who had high-resolution CT with contiguous 1-mm thick images obtained through the petrous bone in axial sections. The CT results were reviewed as incomplete partition type I (IP-I) and type II (IP-II). Incomplete partition type I (unpartitioned cochlea, cystic cochleovestibular malformation) is defined as a malformation in which the cochlea lacks the entire modiolus and interscalar septa, resulting in a cystic appearance and there is an accompanying grossly dilated vestibule. In incomplete partition type II (incompletely partitioned cochlea, the Mondini deformity), there is a cochlea comprised of a normal basal turn and cystic apex accompanied by a minimally dilated vestibule and enlarged vestibular aqueduct (VA). Measurements involving the cochlea, vestibule, vestibular aqueduct, and internal auditory canal (IAC) were done to determine the characteristic features of these pathologies. RESULTS: : Thirteen ears had IP-I and 18 ears had IP-II anomaly. The size of the cochleae in both anomalies showed no significant difference from the normal findings. Only the internal architecture was different. All ears with IP-I had grossly dilated vestibules. Although both anomalies demonstrated vestibular dilatation, the degree of that was minimal in patients with IP-II. In IP-I anomalies, the IAC was larger than that in IP-II anomalies. An enlarged VA accompanied all cases of IP-II, whereas only one of the patients with IP-I had VA that could be demonstrated on CT. In all cases, the VA findings were symmetric on both sides: normal or enlarged. CONCLUSION: Inner ear measurements on radiologic findings in this study confirmed the presence of two different types of incomplete partition: IP-I (unpartitioned cochlea, cystic cochleovestibular malformation) and IP-II (incompletely partitioned cochlea, the classic Mondini deformity). The type I malformation is less differentiated than the type II malformation. Classic Mondini deformity has three components (a cystic apex, dilated vestibule, and large vestibular aqueduct), whereas type I malformation has an empty, unpartitioned cochlea and dilated vestibule without an enlarged VA. Mondini deformity represents a later malformation, so the degree of dysplasia is milder than that in type I. Not only the appearance, but also the measurements of the inner ear structures would be helpful in determining the type of malformation.

Bilateral semicircular canal aplasia with near-normal cochlear development. Two case reports.

Congenital malformations of the vestibular labyrinth (pars superior) are rare. We present two patients with computed tomographic findings of bilateral semicircular canal aplasia with normal or near-normal cochleas. Initial bone conduction thresholds were within normal limits, although both patients had significant conductive hearing losses due to congenital middle ear malformations. Bithermal caloric responses were absent in both. To our knowledge these are the first reports of vestibular aplasia concomitant with normal or near-normal cochlear development. These findings conflict with conventional hypotheses that state that inner ear malformations result from arrested development during the normal stages of inner ear embryogenesis.