scholarly journals Mengenali gangguan pendengaran pada sindrom Waardenburg

2018 ◽  
Vol 47 (2) ◽  
pp. 171
Author(s):  
Semiramis Zizlavsky ◽  
Safira Trifani Putri ◽  
Ronny Suwento
Keyword(s):  
Hearing Loss ◽  
Early Detection ◽  
Sensorineural Hearing Loss ◽  
Hearing Impairment ◽  
Clinical Manifestation ◽  
Stria Vascularis ◽  
Clinical Manifestations ◽  
Sensorineural Hearing ◽  
Waardenburg Syndrome ◽  
Autosomal Dominant Disorder

Latar belakang: Sindrom Waardenburg adalah suatu kelainan yang bersifat autosomal dominan yang ditandai oleh gangguan pendengaran sensorineural dan kelainan pigmen pada mata, rambut, dan kulit. Sindrom auditori-pigmen ini terjadi karena tidak adanya melanosit dari kulit, rambut, mata, serta stria vaskularis pada koklea. Tujuan: Memberikan informasi mengenai manifestasi klinis Sindrom Waardenburg sehingga dapat melakukan deteksi dan penanganan sedini mungkin, terutama untuk gangguan pendengaran. Kasus: Seorang anak laki-laki berusia 7 tahun dengan keterlambatan deteksi gangguan pendengaran. Orang tua anak tidak mengetahui bahwa gangguan pendengaran tersebut merupakan salah satu manifestasi sindrom Waardenburg, sehingga pada anak ini terdapat gangguan perkembangan wicara. Metode: Penelusuran literatur menghasilkan 14 jurnal, dan terdapat 2 jurnal yang relevan. Hasil: Dari 2 jurnal yang didapat, ditemukan 1 artikel penelitian dan 1 laporan kasus sindrom Waardenburg yang memaparkan berbagai manifestasi klinis yang menyertai pasien. Kesimpulan: Deteksi dini dan penatalaksanaan untuk gangguan pendengaran yang merupakan manifestasi klinis tersering dari sindrom Waardenburg, penting dilakukan karena mempengaruhi perkembangan individu dan perkembangan sosial pasien. Kata kunci: Sindrom auditori-pigmentasi, kelainan pigmen, gangguan pendengaran sensorineural, sindrom Waardenburg ABSTRACT Background: Waardenburg Syndrome (WS) is an autosomal-dominant disorder, characterized by sensorineural hearing loss and pigmentary abnormalities of the eyes, hair, and skin. Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, and the stria vascularis of the cochlea. Purpose: To provide information regarding clinical manifestation of Waardenburg Syndrome for early detection and prompt treatment particularly for hearing impairments. Case: A 7-year-old boy with late detection of hearing impairment. Previously, his parents didn’t recognize that this condition was one manifestation of Waardenburg syndrome, so that this patient developed speech delay. Method: Searching for evidence produced 14 journals and only 2 journals were relevant. Result: Of the 2 relevant journals, there were 1 research article and 1 case report that explained several clinical manifestations of Waardenberg Syndrome. Conclusion: Early detection and management of hearing impairment as one of frequent clinical manifestation of Waardenberg Syndrome is significantly important since this condition could influence patient’s individual and social developments. Keywords: Auditory pigmentary syndrome, pigmentary abnormality, sensorineural hearing loss, Waardenburg syndrome

Causes and Types of Sensorineural Hearing Loss. Clinical Manifestations and Basic Principles of Treatment

2020 ◽  
pp. 9-16
Author(s):  
Sergey Armakov
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Inner Ear ◽  
Clinical Manifestations ◽  
Sensorineural Hearing ◽  
Doppler Imaging ◽  
Comprehensive Treatment ◽  
Impaired Hearing ◽  
Temporal Bones ◽  
The Brain

Sensorineural hearing loss is a disorder associated with the damage to the inner ear structures: the cochlea (cortical organ), dysfunctioning of the vestibule-cochlear nerve or the central part of the auditory analyser (brain stem and cortical representation of the cortical temporal lobe). In recent years, there has been a steady increase in ensorineural hearing loss patients; they account for ca. 70% among the total patients with impaired hearing. The disease has numerous causes and a complex pathogenesis. Among the main factors contributing to hearing loss are genetic predisposition, perinatal pathology, including hypoxia at childbirth, exposure to infectious and toxic agents and metabolic disorders, injuries (mechanical, acoustic and altitude trauma). Vascular-rheological disorders in the vertebro-basilar system play an important part because blood is supplied to the inner ear from the anterior inferior cerebellar artery. There are sudden, acute and chronic sensorineural hearing loss. The ensorineural hearing loss isdiagnosed by examinations that allow to verify the diagnosis and to determine the sound analyser damage level. This complex includes audiometric examinations, including the tuning fork examination, speech audiometry, and acoustic impedancemetry. If necessary, ultrasound Doppler imaging of the main blood vessels of the brain, computed tomography of the temporal bones, and MRI of the brain are prescribed. The pattern of comprehensive treatment should include, first of all, the elimination of the disease cause and anti-hypoxic drugs, anti-oxidants and a number of physiotherapy procedures.

scholarly journals Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome

2019 ◽  
pp. 112067211987939
Author(s):  
Fabiana D’Esposito ◽  
Viviana Randazzo ◽  
Gilda Cennamo ◽  
Nicola Centore ◽  
Paolo Enrico Maltese ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Retinitis Pigmentosa ◽  
Sensorineural Hearing Loss ◽  
Hearing Impairment ◽  
Usher Syndrome ◽  
Age At Onset ◽  
Vestibular Dysfunction ◽  
Sensorineural Hearing ◽  
Type I ◽  
Missense Variation

Purpose: Usher syndrome (USH) is an autosomal recessive disorder characterized by congenital sensorineural hearing impairment and retinitis pigmentosa. Classification distinguishes three clinical types of which type I (USH1) is the most severe, with vestibular dysfunction as an added feature. To date, 15 genes and 3 loci have been identified with the USH1G gene being an uncommon cause of USH. We describe an atypical USH1G-related phenotype caused by a novel homozygous missense variation in a patient with profound hearing impairment and relatively mild retinitis pigmentosa, but no vestibular dysfunction. Methods: A 26-year-old female patient with profound congenital sensorineural hearing loss, nyctalopia and retinitis pigmentosa was studied. Audiometric, vestibular and ophthalmologic examination was performed. A panel of 13 genes was tested by next-generation sequencing (NGS). Results: While the hearing loss was confirmed to be profound, the vestibular function resulted normal. Although typical retinitis pigmentosa was present, the age at onset was unusually late for USH1 syndrome. A novel homozygous missense variation (c.1187T>A, p.Leu396Gln) in the USH1G gene has been identified as causing the disease in our patient. Conclusions: Genetic and phenotypic heterogeneity are very common in both isolated and syndromic retinal dystrophies and sensorineural hearing loss. Our findings widen the spectrum of USH allelic disorders and strength the concept that variants in genes that are classically known as underlying one specific clinical USH subtype might result in unexpected phenotypes.

Ethmoidal Adenocarcinoma Presenting as Sensorineural Hearing Loss

1993 ◽  
Vol 7 (5) ◽  
pp. 241-244
Author(s):  
Faustino Nuñez ◽  
Ignacio Alvarez ◽  
Carlos Suarez ◽  
Valentin Mateos ◽  
Dulce M. Campos ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Clinical Manifestation ◽  
Relevant Literature ◽  
Meningeal Carcinomatosis ◽  
Sensorineural Hearing ◽  
Histopathological Findings ◽  
Early Stages ◽  
Patient’S History ◽  
Bilateral Deafness

We present a case of ethmoidal adenocarcinoma which in early stages of the disease produced a meningeal carcinomatosis. Its first clinical manifestation, bilateral deafness, is exceptional. The patient's history and endoscopic and histopathological findings are presented and the relevant literature is reviewed.

Additional clinical manifestations in children with sensorineural hearing loss and biallelicGJB2 mutations: Who should be offeredGJB2 testing?

2007 ◽  
Vol 143A (14) ◽  
pp. 1560-1566 ◽  
Author(s):  
Margaret A. Kenna ◽  
Heidi L. Rehm ◽  
Caroline D. Robson ◽  
Anna Frangulov ◽  
Jennifer McCallum ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Clinical Manifestations ◽  
Sensorineural Hearing

Acupuncture and Sensorineural Hearing Loss: A Review

1975 ◽  
Vol 40 (4) ◽  
pp. 427-433 ◽  
Author(s):  
Harvey A. Taub
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Hearing Impairment ◽  
Placebo Effect ◽  
Sensorineural Hearing ◽  
Hearing Ability ◽  
Sensorineural Hearing Impairment

Recent reports concerning the use of acupuncture as a possible treatment for sensorineural hearing impairment were reviewed and evaluated. It was concluded that acupuncture has no effect upon the hearing ability of individuals with sensorineural losses. Further, it was suggested that subjective feelings of improvement represent a placebo effect resulting from the application of a treatment that patients believe might work and not from acupuncture itself.

scholarly journals Immunoided otological diseases: when to suspect, how to diagnose and treat?

2019 ◽  
Vol 11 (2) ◽  
pp. 97-102
Author(s):  
Carlos Eduardo B Rezende
Keyword(s):  
Hearing Loss ◽  
Autoimmune Diseases ◽  
Sensorineural Hearing Loss ◽  
Inner Ear ◽  
Clinical Manifestations ◽  
Specific Treatment ◽  
Sensorineural Hearing ◽  
Suspected Case ◽  
Immunological Mechanisms ◽  
Organ Specific

The inner ear may be damaged by several autoimmune mechanisms, the most frequent manifestation being progressive sensorineural hearing loss with good responsiveness to immunosuppressants. Eiff work is justified by the need for further studies relating to sensorineural hearing loss mediated (DNSI), since the pathophysiology of this disease entity per obscure manece but positive response to immunosuppressive therapy enhances the existence of immunological mechanisms and autoimmune diseases. The overall objective of this work was to perform a literature review on sensorineural hearing loss immune-mediated-DNSI, focusing on the presentation forms and clinical manifestations, identifying the possible pathophysiological mechanisms involved in internal ear involvement. The specific focus was to establish a protocol to be followed to conduct a suspected case of DNSI, from diagnosis to treatment. The results found in the consulted literature show that the inner ear may be located within the organ-specific disease groups, or, more commonly, as a compromised organ within the systemic form, and hearing damage may be the first symptom. The index of inner ear impairment in systemic au toimunes is variable. It can be concluded that the hearing loss is neurossensoria may occur in patients with autoimmune disease and should always be taken in cases of hearing loss without apparent cause and the knowledge of autoimmune diseases and their correlation with the sensorineural hearing loss contributed significantly to the demystification of this type of hearing loss, allowing the institution of specific treatment.

scholarly journals Oto acoustic emissions in early detection of sensorineural hearing loss in high-risk neonates

2021 ◽  
Vol 7 (11) ◽  
pp. 1794
Author(s):  
J. Ramanjaneyulu ◽  
S. Rajesh Kumar ◽  
V. Krishna Chaitanya ◽  
A. Kusumanjali
Keyword(s):  
Hearing Loss ◽  
High Risk ◽  
Early Detection ◽  
Sensorineural Hearing Loss ◽  
Brain Stem ◽  
Sensitivity And Specificity ◽  
Acoustic Emissions ◽  
Otoacoustic Emission ◽  
Auditory Neuropathy ◽  
Sensorineural Hearing

<p><strong>Background: </strong>Early identification of congenital hearing loss and early intervention ameliorated many adverse consequences. This study was performed to observe effectiveness of otoacoustic emission in screening of hearing loss in high-risk babies.</p><p><strong>Methods: </strong>Prospective study on 45 high-risk newborns delivered during period of 2013-2014. Selective newborn hearing performed with oto acoustic emissions (OAE) and auditory brain stem responses (ABR), in high-risk infants aged below 7 days, 15 days, after 45 days and after 90 days.</p><p><strong>Results: </strong>Study population comprised of 45 high-risk newborns. In 1<sup>st</sup> level screening, 28 (62%) babies showed recordable OAE, 17 (38%) babies failed. In 2<sup>nd</sup> level screening 31 (81%) passed and 7 (19%) failed and death occurred in 7 infants. In 3<sup>rd</sup> level screening both OAE and brain stem evoked response audiometry (BERA), was performed in 38 cases and positivity was reported in 37 cases. 4<sup>th</sup> level screening was similar to 3<sup>rd</sup> level screening where 3 babies failed ABR test. In our study incidence of sensorineural hearing loss found to be 78.91% (3/38×1000) per 1000 high-risk babies. Auditory neuropathy was observed in 2 (4.4%) patients. Sensitivity and specificity of OAE was 100% and 33.3% respectively. In high-risk low birth weight neonates’ sensitivity and specificity was 66.7% and 50.0%.</p><p><strong>Conclusions: </strong>In high-risk babies, appropriate time for screening with OAE is around 60 days of age. OAE are useful diagnostic tool in evaluation of high-risk neonates for early detection of sensorineural hearing loss.</p>

scholarly journals Sensorineural Hearing Loss: What Lies Beneath? Neurovascular Conflict Secondary to a Dural Arteriovenous Malformation

2014 ◽  
Vol 29 (2) ◽  
pp. 37-38
Author(s):  
Ian C. Bickle
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Hearing Impairment ◽  
Sensorineural Hearing ◽  
Assessment Process ◽  
External Carotid ◽  
Neurovascular Conflict ◽  
Vestibulocochlear Nerve ◽  
Presenting Symptoms ◽  
Wide Range

This middle-aged gentleman with no previous medical history presented to the local ENT outpatient clinic complaining of right-sided hearing loss.  No history of trauma or previous head and neck surgery was elicited. Following clinical and auditory assessment a right sensorineural hearing loss was confirmed.  A right-sided facial palsy was additionally identified on examination. A MRI of the internal auditory meati was performed (Figure 1a & 1b).  Following radiologist review, MRI and MRA of the brain was undertaken.   DISCUSSION   Auditory impairment is a condition with a legion of potential causes. One of the routine aspects of the assessment process for those with sensorineural hearing loss is MR imaging (MRI) of the internal auditory meati (IAMS).   The vast majority of MRI studies are normal, however one of the more commonly identified pathologies are cerebrovascular abnormalities. The most well recognised is neurovascular conflict of the vestibulocochlear nerve by a vascular loop at the root entry zone (REZ), however a broader range of potential responsible structural abnormalities are known. A wide range of processes for auditory dysfunction have been outlined.1 These include; cerebral ischaemia events, subarachnoid haemorrhage, cerebrovascular malformations and rarely dural arteriovenous fistulas (dAVFs).   Dural AVF's are abnormal vascular communications between the dural venous sinuses and an arter(ies) - most frequently branches of the external carotid artery. Sensorineural hearing impairment is one of the rarer presenting symptoms. The mechanism for hearing impairment is believed to result from either direct vascular compression on the vestibulocochlear nerve from an enlarged aberrant draining vein or from a vascular steal phenomenon (Figures 2a & 2b). An engorged draining vein from the dAVF causing mechanical compression on the nerve is the most well recognized.2 A single prior case has been reported of compression from an intraossesous dAVF of the skull base.3   The arteriovenous fistula may be directed identified (Figure 3) along with the associated signs of enlarged cerebral cortical veins and white matter change of venous hypertension (Figure 4).  

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