scholarly journals Gangguan pendengaran pada sindroma LEOPARD

2012 ◽  
Vol 42 (2) ◽  
Author(s):  
Semiramis Zizlavsky ◽  
Ronny Suwento ◽  
Dina Alia
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Pulmonary Stenosis ◽  
Sensorineural Deafness ◽  
Sensorineural Hearing ◽  
Leopard Syndrome ◽  
Brainstem Evoked Response Audiometry ◽  
Delayed Onset ◽  
Ocular Hypertelorism ◽  
Evoked Response Audiometry

Background: Leopard syndrome is a rare case, only around 200 cases has been reported worldwide.  Leopard syndrome is abbreviation for multipel Lentigines, Electrocardiographic conduction, Ocular hypertelorism, Pulmonary stenosis, Abnormality of genitalia, Retardation of growth, and sensorineural Deafness. This disorder suggests a possible relation between PTPN11 gene mutations and distinct clinical features. Purpose: This case is presented so that ENT specialists could identify signs and symptoms of Leopard Syndrome which manifest as sensorineural hearing loss (SNHL). Case: We report a 29 year old woman with multiple lentigines, scoliosis and atrial septal defect. She has 4 year old twin boys, one of them has cryptorchidism and a 10 month old girl with asymmetric septal hypertrophy and they also have multipel lentigines. They were referred to ENT Department for auditory function screening since  Leopard syndrome is suspected. The audiometry of the mother reveals mild conductive deafness (40 dB)  in right ear due to tympanic membrane perforation. Audiometry of the twin boys reveals sensorineural hearing loss above 4000 Hz frequency. Brainstem Evoked Response Audiometry (BERA) of the daughter reveals mild sensorineural hearing loss (40 dB )on right ear. Genogram shows that the disorders is dominant autosomal inherited. Management: Periodic auditory examination for sensorineural hearing loss is recommended since delayed onset could occur. Conclusion: Sensorineural hearing loss is a mani-festation of Leopard syndrome that should be assessed early and periodically to detect delayed onset. Keywords: Sensorineural hearing loss (SNHL), Leopard syndrome, generalized lentiginosa.    Abstrak :  Latar belakang: Sindroma Leopard merupakan kasus yang jarang ditemukan dan dari publikasi yang ada, hingga saat ini hanya terdapat 200 kasus di seluruh dunia. Sindroma Leopard merupakan singkatandari Lentigines multipel, Electrocardiographic conduction, Ocular hypertelorism, Pulmonary stenosis,Abnormality of genitalia, Retardation of growth and sensorineural Deafness. Kelainan ini disebabkan olehmutasi gen PTPN11 dengan gambaran klinis yang khas. Tujuan: Kasus ini diajukan agar spesialis THTmengenali gejala sindroma Leopard yang dapat melibatkan gangguan pendengaran berupa sensorineuralhearing loss(SNHL) sehingga tidak terjadi keterlambatan dalam penatalaksanaan. Kasus: Perempuanberusia 29 tahun dengan lentiginosa multipel, skoliosis dan defek septum atrium. Ia memiliki 2 anaklaki-laki kembar yang salah satunya mengalami kriptorkismus dan anak perempuan usia 10 bulan yangmenderita hipertrofi septum asimetris dan juga menderita multipel lentiginosa. Mereka dikonsulkan ke THT dari bagian kulit RSCM untuk pemeriksaan fungsi pendengaran dengan kecurigaan sindromaLeopard. Pada pemeriksaan audiometri diperoleh hasil pada ibu berupa tuli konduktif ringan (40 dB)telinga kanan akibat perforasi membran timpani. Dua orang anak kembar menunjukkan hasil tuli sarafdi atas frekuensi 4000 Hz. Pemeriksaan Brainstem Evoked Response Audiometry (BERA) pada anakperempuan menunjukkan tuli saraf ringan (40 dB) di telinga kanan. Genogram menunjukkan kelainanautosom dominan. Penatalaksanaan: Tindak lanjut berupa pemeriksaan pendengaran secara berkaladianggap penting untuk mendeteksi terjadinya awitan lambat. Kesimpulan: SNHL merupakan salah satumanifestasi sindroma Leopard yang perlu diperiksa untuk mendeteksi terjadi awitan lambat. Kata kunci: Sensorineural hearing loss (SNHL), sindroma Leopard, lentiginosa multipel.

scholarly journals Role of Brainstem Evoked Response Audiometry in Evaluating Sensorineural Hearing Loss in Diabetic Patients

2021 ◽  
Vol 29 (2) ◽  
pp. 182-188
Author(s):  
Deepika Goswami ◽  
Saurabh Srivastava ◽  
Anuja Bhargava ◽  
Syed M Faiz ◽  
Zeba Siddiqi ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Auditory Pathway ◽  
Evoked Response ◽  
Sensorineural Hearing ◽  
Diabetic Patients ◽  
Brainstem Evoked Response Audiometry ◽  
Group I ◽  
Absolute Latency ◽  
Evoked Response Audiometry

Introduction Diabetes has become a global epidemic. Hearing loss has been long associated with diabetes. Brainstem Evoked Response Audiometry (BERA) is an objective, non-invasive, electro diagnostic test that not only evaluates the functional integrity of the subcortical auditory pathway but also provides topo-diagnosis of hearing loss. This study aims to identify the role BERA in detecting hearing loss early in diabetic patients.Materials and Methods In this study a total of 210 patients were taken and subjected to blood glucose levels followed by PTA were divided into two groups. Group I (n=105) consisted of diabetic patients with sensorineural hearing loss (SNHL) and Group II (n=105) had age and sex matched non-diabetics with SNHL. All the patients were evaluated with BERA.Results All the patients were subjected to Brain Stem Evoked Response Audiometry (BERA). Absolute latency of Wave I, III, V, I-III, III-V and I-V were assessed for both the ears. In both ear Absolute latency were significantly higher in diabetics as compared to non-diabetic patientsConclusion The findings of present study showed that the severity of hearing loss was significantly higher in diabetic patients as compared to non-diabetic controls. Level of glycemic control showed a possible link with severity of hearing loss.

scholarly journals TO STUDY THE INCIDENCE OF SENSORINEURAL HEARING LOSS POST MENINGITIS IN NEONATES

2021 ◽  
Vol 9 (04) ◽  
pp. 174-180
Author(s):  
Ubaid Ullah Wani ◽  
◽  
Sheikh Quyoom Hussain ◽  
Khursheed Ahmad Wani ◽  
◽  
...  
Keyword(s):  
Hearing Loss ◽  
Early Detection ◽  
Sensorineural Hearing Loss ◽  
Public Health Problem ◽  
Evoked Response ◽  
Sensorineural Hearing ◽  
Neonatal Meningitis ◽  
Female Ratio ◽  
Brainstem Evoked Response Audiometry ◽  
Evoked Response Audiometry

Background:Post meningitis hearing impairment is an important public health problem. Neonatal meningitis is an important cause of mortality and morbidity in neonates in future life. An important consequence is hearing loss. Hearing plays a basic and important role in language, speech and intellectual development. Late detection causes irreversible stunting of the language development potential of the child. Early detection and intervention would help to maximize linguistic competence and literacy development for children who are deaf or hard of hearing. The study of brainstem evoked response audiometry provides an opportunity to evaluate the functional integrity of auditory pathway from inner ear to upper brainstem. Aim:This study was conducted to determine the incidence of sensorineural hearing loss following meningitis in neonates. Material and Methods:The present study was conducted in the Department of Pediatrics, Government Medical College Srinagar. All the patients,Term neonates with CSF culture proven bacterial meningitis. , were referred to the Department of ENT, SMHS Hospital Srinagar, of the institution for thorough ENT checkup, to exclude any ear pathology and BERA (Brainstem Evoked Response Audiometry). Results:In our study total number of cases were 87. Majority of our studied children i.e. 47 (54%) were < days of age whereas 40 (46%) children were 8-28 days of aged. The mean age of our study patients was 15.7+3.71.Out of 87 patients in our study, male predominance was observed with 55.2% males versus 44.8% females with a male to female ratio of 1.2:1. Hearing loss was observed in 11 (12.6%) of our study children.Bilateral hearing loss was seen in 5 of the 11 children (5.7%) while as unilateral hearing loss was observed in 6 of the 11 children (6.9%). Out of a total of 11 (12.6%) patients who had hearing loss, 6 (6.9%) were having mild hearing loss, followed by 3 (3.4%) children with profound hearing loss while as moderate and severe hearing loss was observed in 1 (1.1%) patients each. Conclusion: Hearing loss is not a rare complication asociated with meningitis in neonates, early detection and appropriate treatment is needed to prevent language , speech and intellecual damage.

Azathioprine in Combination with Steroids in the Treatment of Autoimmune Inner-Ear Disease

1993 ◽  
Vol 21 (4) ◽  
pp. 192-196 ◽  
Author(s):  
Aytac Saraçaydin ◽  
Sedat Katircioğlu ◽  
Sami Katircioğlu ◽  
M Can Karatay
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Inner Ear ◽  
Sensorineural Deafness ◽  
Sensorineural Hearing ◽  
Once Daily ◽  
Uncommon Disease ◽  
Inner Ear Disease ◽  
Pure Tones ◽  
Autoimmune Inner Ear Disease

A total of twelve patients with a relatively uncommon form of progressive sensorineural deafness (autoimmune innerear disease) were treated orally with 1 mg/kg azathioprine, once daily, and with 30 mg prednisolone, every other day, for 4 weeks. Statistically significant increases in the ability to hear pure tones or in discrimination on audiometry took place in 10/12 patients. This condition was initially described as ‘sensorineural hearing loss', but it is now clear that the term ‘autoimmune inner-ear disease’ is more appropriate since the vestibular compartment as well as the cochlear compartment is involved. This relatively uncommon disease is one of the few forms of sensorineural deafness that can be successfully treated.

scholarly journals Frequency of sensorineural hearing loss in children with bacterial meningitis.

2020 ◽  
Vol 27 (12) ◽  
pp. 2729-2733
Author(s):  
Rabia Saleem Safdar ◽  
M Faisal Mehar ◽  
Madiha Naz ◽  
Afsheen Asghar Khan ◽  
Nusrat Buzdar ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Bacterial Meningitis ◽  
Sensorineural Hearing Loss ◽  
Cross Sectional Study ◽  
Sensorineural Hearing ◽  
Outcome Variable ◽  
Cross Sectional ◽  
And Gender ◽  
Evoked Response Audiometry ◽  
Study Setting

Objectives: To determine the frequency of sensorineural hearing loss (SNHL) in children with bacterial meningitis. Study Design: Cross Sectional study. Setting: Department of Paediatric Medicine Nishtar Hospital, Multan. Period: October 2019 to March 2020. Material & Methods: The study was conducted after permission from ethical committee. A total of 151 patients admitted with bacterial meningitis were enrolled. Apart from the presenting complaints, necessary information like the age and gender were noted. Examination of the child was done to assess the condition of child. Brainstem evoked response audiometry (BERA) test was performed before discharge of the patient from the hospital. The outcome variable that is SNHL in bacterial meningitis assessed by BERA test was noted in a specifically designed Performa. Results: Out of total of 151 patients, males were 83 (55%) while females 68 (45%). Overall mean age was 11.85+6.12 months. SNHL was found in 26 (17.2%) children. There was no significant effect of age or gender on the frequencies of SNHL. Conclusion: SNHL is a frequently encountered complication in our population of children with bacterial meningitis. SNHL should be carefully sought out and properly diagnosed in all the patients presenting with bacterial meningitis.

Exposure of weak magnetic fields on auditory nerve of patients with moderate to severe sensorineural hearing loss

2021 ◽  
Vol 20 (5) ◽  
pp. 63-67
Author(s):  
S. V. Surma ◽  
◽  
D. S. Klyachko ◽  
B. F. Shchegolev ◽  
E. A. Ogorodnikova ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Magnetic Fields ◽  
Sensorineural Hearing Loss ◽  
Hearing Aids ◽  
Auditory Nerve ◽  
Health Hazard ◽  
Sensorineural Deafness ◽  
Pure Tone Audiometry ◽  
Sensorineural Hearing ◽  
Alternative Methods

The article shows that one of the alternative methods of treating moderate to severe sensorineural hearing loss can be the use of an external weak magnetic field. The proposed method is based on the coincidence of the effects caused by the exposure of an external electromagnetic field of certain parameters on the auditory nerve, and natural acoustic exposure. The similarity of reaction allows using of external magnetic fields as an artificial stimulator of the auditory system’s neural part. Induction of applied magnetic fields does not exceed 300 µT, which means that under the current legislation such fields are classified as posing no health hazard. This method was tested at Saint Petersburg Research Institute of Ear, Throat, Nose, and Speech based on relevant Ethics Committee approval and complied with informed consent standards of volunteers. 15 patients aged 18 to 45 with III and IV levels of sensorineural deafness without concomitant pathologies were tested. Threshold pure-tone audiometry was performed on each patient at 500, 1000, 2000, 3000, and 4000 Hz before and after the procedure. The results of the experiments showed that electromagnetic stimulation of auditory neurons allows increasing hearing sensitivity. The proposed procedure may not yield a tangible result in patients with auditory deprivation. Patients with hearing aids showed the most significant results. At the same time, the measurements have shown that the sound thresholds among them became 10 dB lower on the average. The non-invasiveness of the exposure provided additional comfort for the patient.

scholarly journals SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect

Brain ◽  
2020 ◽  
Vol 143 (8) ◽  
pp. 2380-2387 ◽  
Author(s):  
Alisdair McNeill ◽  
Emanuela Iovino ◽  
Luke Mansard ◽  
Christel Vache ◽  
David Baux ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Developmental Disorders ◽  
De Novo ◽  
Neurodevelopmental Disorder ◽  
Sensorineural Deafness ◽  
Sensorineural Hearing ◽  
De Novo Mutation ◽  
Xenopus Laevis Oocytes ◽  
De Novo Mutations

Abstract The SLC12 gene family consists of SLC12A1–SLC12A9, encoding electroneutral cation-coupled chloride co-transporters. SCL12A2 has been shown to play a role in corticogenesis and therefore represents a strong candidate neurodevelopmental disorder gene. Through trio exome sequencing we identified de novo mutations in SLC12A2 in six children with neurodevelopmental disorders. All had developmental delay or intellectual disability ranging from mild to severe. Two had sensorineural deafness. We also identified SLC12A2 variants in three individuals with non-syndromic bilateral sensorineural hearing loss and vestibular areflexia. The SLC12A2 de novo mutation rate was demonstrated to be significantly elevated in the deciphering developmental disorders cohort. All tested variants were shown to reduce co-transporter function in Xenopus laevis oocytes. Analysis of SLC12A2 expression in foetal brain at 16–18 weeks post-conception revealed high expression in radial glial cells, compatible with a role in neurogenesis. Gene co-expression analysis in cells robustly expressing SLC12A2 at 16–18 weeks post-conception identified a transcriptomic programme associated with active neurogenesis. We identify SLC12A2 de novo mutations as the cause of a novel neurodevelopmental disorder and bilateral non-syndromic sensorineural hearing loss and provide further data supporting a role for this gene in human neurodevelopment.

scholarly journals Should You Follow the Better-Hearing Ear for Congenital Cytomegalovirus Infection and Isolated Sensorineural Hearing Loss?

2019 ◽  
Vol 162 (1) ◽  
pp. 114-120 ◽  
Author(s):  
Vanessa Torrecillas ◽  
Chelsea M. Allen ◽  
Tom Greene ◽  
Albert Park ◽  
Winnie Chung ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Early Onset ◽  
Medical Center ◽  
Antiviral Treatment ◽  
Sensorineural Hearing ◽  
Cmv Infection ◽  
Congenital Cytomegalovirus ◽  
Delayed Onset ◽  
Hearing Thresholds

Objective To describe the progression of sensorineural hearing loss (SNHL) in the better- and poorer-hearing ears in children with asymptomatic congenital cytomegalovirus (CMV) infection with isolated SNHL. Study Design Longitudinal prospective cohort study. Setting Tertiary medical center. Subjects and Methods We analyzed hearing thresholds of the better- and poorer-hearing ears of 16 CMV-infected patients with isolated congenital/early-onset or delayed-onset SNHL identified through hospital-based CMV screening of >30,000 newborns from 1982 to 1992. Results By 12 months of age, 4 of 7 patients with congenital/early-onset SNHL developed worsening thresholds in the poorer-hearing ear, and 1 had an improvement in the better-hearing ear. By 18 years of age, all 7 patients had worsening thresholds in the poorer-hearing ear and 3 patients had worsening thresholds in the better-hearing ear. Hearing loss first worsened at a mean age of 2 and 6 years in the poorer- and better-hearing ears, respectively. Nine patients were diagnosed with delayed-onset SNHL (mean age of 9 years vs 12 years for the poorer- and better-hearing ears), 6 of whom had worsening thresholds in the poorer-hearing ear and 1 in both ears. Conclusion In most children with congenital CMV infection and isolated SNHL, the poorer-hearing ear worsened earlier and more precipitously than the better-hearing ear. This study suggests that monitoring individual hearing thresholds in both ears is important for appropriate interventions and future evaluation of efficacy of antiviral treatment.

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