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

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 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.

Sensorineural hearing loss after bacterial meningitis in children residing in Nur-Sultan

2020 ◽  
Vol 18 (4) ◽  
pp. 189-194
Author(s):  
A. Seidullayeva ◽  
◽  
D. Bayesheva ◽  
B. Turdalina ◽  
A. Altynbekova ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Bacterial Meningitis ◽  
Sensorineural Hearing Loss ◽  
Hearing Aids ◽  
Cochlear Implantation ◽  
Clinical Manifestations ◽  
Otoacoustic Emission ◽  
Neurological Complications ◽  
Viral Meningitis ◽  
Sensorineural Hearing

Bacterial meningitis (BM) is a widespread health problem characterized by severe clinical manifestations and high incidence of neurological complications. BM remains one of the main causes of disability and mortality among young children all over the world. Hearing loss is one of neurological complications associated with BM. It accounts for up to 60%–90% of all cases of acquired sensorineural hearing loss (SNHL). Between 2015 and 2018, we performed screening for SNHL among children who had had BM. Seven out of 62 patients examined (11.3%) were found to have SNHL. BM was primarily caused by Streptococcus pneumoniae (n = 4) and Neisseria meningitidis (n = 3). Three out of 4 patients had grade 3–4 SNHL. Computed tomography revealed cochlear ossification in two children and cochlear fibrosis in one child (who had successful cochlear implantation later). For the rest of the patients, we recommended hearing aids. We also found that hearing loss usually develops after BM and does not affect patients with viral meningitis (caused by enteroviruses). We recommend that children with BM undergo regular screening for SNHL (every 3 days during treatment) using otoacoustic emission. These patients should be also examined by an audiologist after discharge from hospital and then every three months for a year. Key words: children, cochlear implantation, meningitis, sensorineural hearing loss, acquired deafness

scholarly journals Sudden Bilateral Sensorineural Hearing Loss Associated with HLA A1-B8-DR3 Haplotype

2013 ◽  
Vol 2013 ◽  
pp. 1-4
Author(s):  
G. Psillas ◽  
M. Daniilidis ◽  
A. Gerofotis ◽  
K. Veros ◽  
A. Vasilaki ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Inner Ear ◽  
Cyclosporine A ◽  
Immunosuppressive Treatment ◽  
Clinical Manifestations ◽  
Sensorineural Hearing ◽  
High Dose ◽  
Inner Ear Disease ◽  
Autoimmune Inner Ear Disease

Sudden sensorineural hearing loss may be present as a symptom in systemic autoimmune diseases or may occur as a primary disorder without another organ involvement (autoimmune inner ear disease). The diagnosis of autoimmune inner ear disease is still predicated on clinical features, and to date specific diagnostic tests are not available. We report a case of bilateral sudden hearing loss, tinnitus, intense rotatory vertigo, and nausea in a female patient in which the clinical manifestations, in addition to raised levels of circulating immune complexes, antithyroglobulin antibodies, and the presence of the HLA A1-B8-DR3 haplotype, allowed us to hypothesize an autoimmune inner ear disease. Cyclosporine-A immunosuppressive treatment in addition to steroids helped in hearing recovery that occurred progressively with normalization of the hearing function after a five-month treatment. Cyclosporine-A could be proposed as a therapeutic option in case of autoimmune inner ear disease allowing the suspension of corticosteroids that, at high dose, expose patients to potentially serious adverse events.

Audiologic and Otologic Clinical Manifestations of Loeys-Dietz Syndrome: A Heritable Connective Tissue Disorder

2021 ◽  
pp. 019459982110088
Author(s):  
Jun W. Jeon ◽  
Julie Christensen ◽  
Jennifer Chisholm ◽  
Christopher Zalewski ◽  
Marjohn Rasooly ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Connective Tissue ◽  
Sensorineural Hearing Loss ◽  
Tympanic Membrane ◽  
Conductive Hearing Loss ◽  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Connective Tissue Disorder ◽  
Sensorineural Hearing ◽  
Conductive Hearing

Objective Loeys-Dietz syndrome (LDS) is a rare genetic connective tissue disorder resulting from TGF-ß signaling pathway defects and characterized by a wide spectrum of aortic aneurysm, arterial tortuosity, and various extravascular abnormalities. This study describes the audiologic, otologic, and craniofacial manifestations of LDS. Study Design Consecutive cross-sectional study. Setting Tertiary medical research institute. Methods Audiologic and clinical evaluations were conducted among 36 patients (mean ± SD age, 24 ± 17 years; 54% female) with genetically confirmed LDS. Cases were categorized into genetically based LDS types 1 to 4 ( TGFBR1, TGFBR2, SMAD3, TGFB2, respectively). Audiometric characteristics included degree and type of hearing loss: subclinical, conductive, mixed, and sensorineural. Results LDS types 1 to 4 included 11, 13, 5, and 7 patients, respectively. In LDS-1, 27% had bilateral conductive hearing loss; 9%, unilateral mixed; and 36%, subclinical. In LDS-2, 38% had conductive hearing loss and 38% subclinical. In LDS-3 and LDS-4, 40% and 43% had bilateral sensorineural hearing loss, respectively. Degree of hearing loss ranged from mild to moderate. Bifid uvula was observed only in LDS-1 (55%) and LDS-2 (62%). Submucosal/hard cleft palates were primarily in LDS-1 and LDS-2. Posttympanostomy tympanic membrane perforations occurred in 45% (10/22 ears) of LDS-1 and LDS-2. There were 4 cases of cholesteatoma: 3 middle ear (LDS-1 and LDS-2) and 1 external ear canal (LDS-3). Conclusion Conductive hearing loss, bifid uvula/cleft palate, and posttympanostomy tympanic membrane perforation are more common in LDS-1 and LDS-2 than LDS-3 and LDS-4, while sensorineural hearing loss was present only in LDS-3 and LDS-4. These LDS-associated key clinical presentations may facilitate an early diagnosis of LDS and thus prompt intervention to prevent related detrimental outcomes.

Endemic cretinism in Thailand: a multidisciplinary survey

1997 ◽  
pp. 349-355 ◽  
Author(s):  
R Rajatanavin ◽  
L Chailurkit ◽  
P Winichakoon ◽  
P Mahachoklertwattana ◽  
S Soranasataporn ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Iodine Deficiency ◽  
Geographical Area ◽  
Clinical Manifestations ◽  
Thyroid Volume ◽  
Mental Deficiency ◽  
Sensorineural Hearing ◽  
Skeletal Maturation ◽  
Endemic Cretinism

Endemic cretinism has been classified into neurological and myxedematous types. Profound mental deficiency, deaf-mutism and cerebral diplegia are predominantly found in the former. The latter have been described as less mentally retarded but with severe growth retardation and myxedematous features. The pathogenesis of different clinical types of endemic cretinism is still unclear. Recently, a unifying hypothesis suggested that iodine deficiency, severe enough to cause maternal and fetal hypothyroxinemia, results in neurological defects in all cretins. We conducted the present study in northern Thailand to determine the validity of this hypothesis in another geographical area. The study consisted of a multidisciplinary survey on 112 endemic cretins aged 2-66 years in Nan. They were categorized clinically into three types of endemic cretins, neurological (n = 57), myxedematous (n = 19) and mixed form (n = 36). The subjects were generally short and the majority had severe mental retardation (mean intellectual quotient (I.Q.) 30.8 +/- 8.8), psychomotor defect and profound sensorineural hearing loss. The I.Q. score and proportion of cretins with sensorineural hearing loss and psychomotor defect were similar among the three types of cretins. The most frequent neurological abnormalities were spasticity, hyper-reflexia, the presence of primitive reflexes and gait disturbance. These abnormalities were distributed equally among the three types of endemic cretins. Delayed skeletal maturation and abnormal epiphysis were also present in all types of cretins. However, myxedematous cretins were shorter (P < 0.01), having more myxedematous features (P < 0.05 to P < 0.001) and less sexual maturation (P < 0.05). Thyroid volume was lower in cretins with hypothyroidism (P < 0.01). In conclusion, our findings support the hypothesis that neurological features are present in all types of cretins, and are the consequence of maternal and fetal hypothyroxinemia due to severe iodine deficiency. The clinical manifestations of the cretins were subsequently modified by the length and severity of postnatal iodine deficiency and hypothyroidism.

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

scholarly journals Hypoglycemia with lactic acidosis caused by a new MRPS2 gene mutation in a Chinese girl: a case report

2022 ◽  
Vol 22 (1) ◽  
Author(s):  
ChangZhi Liu ◽  
WeiRan Zhou ◽  
QuanE Liu ◽  
ZaiXin Peng
Keyword(s):  
Hearing Loss ◽  
Lactic Acidosis ◽  
Sensorineural Hearing Loss ◽  
Gene Mutation ◽  
Clinical Manifestations ◽  
Severe Hypoglycemia ◽  
Sensorineural Hearing ◽  
Chinese Girl ◽  
Recurrent Vomiting ◽  
Mitochondrial Defects

Abstract Background Mitochondrial ribosomal protein S2 (MRPS2) gene mutation, which is related to severe hypoglycemia and lactic acidosis, is rarely reported globally. Case presentation We report a case of a new MRPS2 gene mutation in a Chinese girl who presented with hypoglycemia and lactic acidosis. A homozygous C.412C > G variant that could cause complex oxidative phosphorylation deficiency and had not been reported before was identified. The clinical manifestations included recurrent vomiting, hypoglycemia, lactic acidosis, sensorineural hearing loss, and gall bladder calculi. Hypoglycemia and lactic acidosis improved after the administration of sugary liquid and supportive treatments. Conclusions Recurrent hypoglycemia with lactic acidosis and sensorineural hearing loss should lead to suspicion of mitochondrial defects and the early refinement of genetic tests.

scholarly journals Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss

2017 ◽  
Vol 5 ◽  
pp. 2050313X1774590 ◽  
Author(s):  
Ayesha Umrigar ◽  
Amanda Musso ◽  
Danielle Mercer ◽  
Annette Hurley ◽  
Cassondra Glausier ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Age Of Onset ◽  
Usher Syndrome ◽  
Healthcare Providers ◽  
Delayed Diagnosis ◽  
Clinical Manifestations ◽  
Sensorineural Hearing ◽  
Diagnosis And Management ◽  
Syndromic Hearing Loss

Advances in sequencing technologies and increased understanding of the contribution of genetics to congenital sensorineural hearing loss have led to vastly improved outcomes for patients and their families. Next-generation sequencing and diagnostic panels have become increasingly reliable and less expensive for clinical use. Despite these developments, the diagnosis of genetic sensorineural hearing loss still presents challenges for healthcare providers. Inherited sensorineural hearing loss has high levels of genetic heterogeneity and variable expressivity. Additionally, syndromic hearing loss (hearing loss and additional clinical abnormalities) should be distinguished from non-syndromic (hearing loss is the only clinical symptom). Although the diagnosis of genetic sensorineural hearing loss can be challenging, the patient’s family history and ethnicity may provide critical information, as certain genetic mutations are more common in specific ethnic populations. The early identification of the cause of deafness can benefit patients and their families by estimating recurrence risks for future family planning and offering the proper interventions to improve their quality of life. Collaboration between pediatricians, audiologists, otolaryngologists, geneticists, and other specialists are essential in the diagnosis and management of patients with hearing disorders. An early diagnosis is vital for proper management and care, as some clinical manifestations of syndromic sensorineural hearing loss are not apparent at birth and have a delayed age of onset. We present a case of Usher syndrome (congenital deafness and childhood-onset blindness) illustrating the challenges encountered in the diagnosis and management of children presenting with congenital genetic sensorineural hearing loss, along with helpful resources for clinicians and families.

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