Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in TMC1

2010 ◽  
Vol 16 (2) ◽  
pp. 93-105 ◽  
Author(s):  
Anne-Martine R. de Heer ◽  
Rob W.J. Collin ◽  
Patrick L.M. Huygen ◽  
Margit Schraders ◽  
Jaap Oostrik ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Novel Mutation ◽  
Vestibular Function ◽  
Sensorineural Hearing

Vestibular function assessment of Susac syndrome patients by the video head impulse test and cervical vestibular-evoked myogenic potentials

2020 ◽  
Vol 30 (6) ◽  
pp. 393-399
Author(s):  
Yahav Oron ◽  
Ophir Handzel ◽  
Zohar Habot-Wilner ◽  
Keren Regev ◽  
Arnon Karni ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Vestibular Function ◽  
Pure Tone Audiometry ◽  
Sensorineural Hearing ◽  
Vestibular Evoked Myogenic Potentials ◽  
Head Impulse Test ◽  
Video Head Impulse Test ◽  
Head Impulse ◽  
Susac Syndrome

BACKGROUND: Susac syndrome (retino-cochleo-cerebral vasculopathy, SuS) is an autoimmune endotheliopathy characterized by the clinical triad of encephalopathy, branch retinal artery occlusions and sensorineural hearing loss. In contrast to data regarding auditory function, data measuring vestibular function is sparse and the cervical vestibular-evoked myogenic potentials (cVEMPs). OBJECTIVE: To determine whether the video head impulse test (vHIT) can serve as a confirmatory assessment of vestibulocochlear dysfunction in cases of suspected SuS. METHODS: Seven patients diagnosed with SuS underwent pure tone audiometry, a word recognition test, cVEMPs and the vHIT. RESULTS: Five patients were diagnosed with definite SuS, and two with probable SuS. Two patients were asymptomatic for hearing loss or tinnitus, and no sensorineural hearing loss was detected by audiograms. Four patients complained of tinnitus, and three patients reported experiencing vertigo. Three patients had abnormal cVEMPs results. All seven patients’ vHIT results were normal, except for patient #2, who was one of the three who complained of vertigo. The calculated gain of her left anterior semicircular canal was 0.5, without saccades. CONCLUSIONS: This is the first study to describe the results of the vHIT and cVEMPs among a group of patients with SuS. The results suggest that the vHIT should not be the only exam used to assess the function of the vestibular system of SuS patients.

scholarly journals Vestibular prognosis in idiopathic sudden sensorineural hearing loss with vestibular dysfunction treated with oral or intratympanic glucocorticoids: a protocol for randomized controlled trial

2020 ◽  
Author(s):  
Huawei Li ◽  
Weiming Hao ◽  
Liping Zhao ◽  
Huiqian Yu
Keyword(s):  
Randomized Controlled Trial ◽  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Controlled Trial ◽  
Vestibular Function ◽  
Vestibular Dysfunction ◽  
Sudden Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Hearing Outcome ◽  
Randomized Controlled

Abstract Background Idiopathic sudden sensorineural hearing loss (ISSNHL) is a rapid-onset sensorineural hearing impairment with unclear etiology and unsatisfying treatment effects. Vestibular dysfunction has been considered as a poor indicator in the clinical manifestations and prognosis of ISSNHL, which occurred in approximately 28%-57% cases. Glucocorticoids, administered through oral or intratympanic way, is currently a regular and standard treatment for ISSNHL based on hearing outcome. However, little investigations have been conducted on the recovery process and treatment effects of glucocorticoids on vestibular dysfunctions of ISSNHL. This study aims to compare the efficacy of oral or intratympanic glucocorticoids in ISSNHL with vestibular dysfunction in terms of the pattern and trajectory of possible process of vestibular function recovery.Methods/Design A randomized, outcome-assessor- and analyst-blinded, controlled, clinical trial (RCT) will be carried out. A group of seventy-two patients with ISSNHL complaining of vestibular dysfunction appearing as vertigo, dizziness or imbalance will be recruited and randomized into two arms of either oral or intratympanic glucocorticoids therapy with a 1:1 allocation ratio. The primary outcomes will be vestibular function outcomes assessed by sensory organization test, caloric test, video head impulse test, and vestibular evoked myogenic potentials; the secondary outcomes include self-reported vestibular dysfunction symptoms; dizziness-related handicap, visual analogue scale for vertigo and tinnitus; and pure tone audiometry. Assessment will be performed at baseline and at 1, 2, 4, and 8 weeks post-randomization. To our knowledge, this will be the first randomized controlled trial focusing on the prognosis of vestibular dysfunction in ISSNHL and the efficacy of glucocorticoids therapy for the vestibular dysfunction in this disease.Discussion This trial will be the first RCT study focusing on the progress and prognosis of vestibular dysfunction in ISSNHL. Efficacy of two commonly used therapies of glucocorticoids will be compared in both auditory and vestibular function fields, rather than in the hearing outcome alone. Trial registration ClinicalTrials.gov, NCT03974867. Registered on July 23, 2019.

B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker–Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss

2018 ◽  
Vol 49 (04) ◽  
pp. 289-295 ◽  
Author(s):  
Muna Al Dhaibani ◽  
Ayman El-Hattab ◽  
Omar Ismayl ◽  
Jehan Suleiman
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Novel Mutation ◽  
Congenital Muscular Dystrophy ◽  
Craniocervical Junction ◽  
Epileptic Encephalopathy ◽  
Brain Disease ◽  
West Syndrome ◽  
Sensorineural Hearing ◽  
Muscle Disease

AbstractMutations in B3GALNT2, encoding a glycosyltransferase enzyme involved in α-dystroglycan glycosylation, have been recently associated with dystroglycanopathy, a well-recognized subtype of congenital muscular dystrophy (CMD). Only a few cases have been reported with B3GALNT2-related dystroglycanopathy with variable severity ranging from mild CMD to severe muscle-eye-brain disease. Here, we describe a child with a novel homozygous nonsense mutation in B3GALNT2. The affected child has severe neurological disease since birth, including muscle disease manifested as hypotonia, muscle weakness, and wasting with elevated creatine kinase, eye disease including microphthalmia and blindness, brain disease with extensive brain malformations including massive hydrocephalus, diffuse cobblestone-lissencephaly, deformed craniocervical junction, and pontocerebellar hypoplasia. The clinical and radiologic findings are compatible with a diagnosis of severe muscle-eye-brain disease and more specifically Walker–Warburg syndrome. A more distinct aspect of the clinical phenotype in this child is the presence of refractory epilepsy in the form of epileptic spasms, epileptic encephalopathy, and West syndrome, as well as sensorineural hearing loss. These findings could expand the phenotype of B3GALNT2-related dystroglycanopathy. In this report, we also provide a detailed review of previously reported cases with B3GALNT2-related dystroglycanopathy and compare them to our reported child. In addition, we study the genotype–phenotype correlation in these cases.

Vestibular function assessment of Susac syndrome patients by the video head impulse test and cervical vestibular-evoked myogenic potentials

2020 ◽  
pp. 1-7
Author(s):  
Yahav Oron ◽  
Ophir Handzel ◽  
Zohar Habot-Wilner ◽  
Keren Regev ◽  
Arnon Karni ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Vestibular Function ◽  
Pure Tone Audiometry ◽  
Sensorineural Hearing ◽  
Vestibular Evoked Myogenic Potentials ◽  
Head Impulse Test ◽  
Video Head Impulse Test ◽  
Head Impulse ◽  
Susac Syndrome

BACKGROUND: Susac syndrome (retino-cochleo-cerebral vasculopathy, SuS) is an autoimmune endotheliopathy characterized by the clinical triad of encephalopathy, branch retinal artery occlusions and sensorineural hearing loss. In contrast to data regarding auditory function, data measuring vestibular function is sparse. OBJECTIVE: To determine whether the video head impulse test (vHIT) can serve as a confirmatory assessment of vestibulocochlear dysfunction in cases of suspected SuS. METHODS: Seven patients diagnosed with SuS underwent pure tone audiometry, a word recognition test, cervical vestibular-evoked myogenic potentials (cVEMPs), and the v-HIT. RESULTS: Five patients were diagnosed with definite SuS, and two with probable SuS. Two patients were asymptomatic for hearing loss or tinnitus, and no sensorineural hearing loss was detected by audiograms. Four patients complained of tinnitus, and three patients reported experiencing vertigo. Three patients had abnormal cVEMPs results. All seven patients’ vHIT results were normal, except for patient #2, who was one of the three who complained of vertigo. The calculated gain of her left anterior semicircular canal was 0.5, without saccades. CONCLUSIONS: This is the first study to describe the results of the vHIT and cVEMPs among a group of patients with SuS. The results suggest that the vHIT should not be the only exam used to assess the function of the vestibular system of SuS patients.

scholarly journals Association between Vestibular Function and Hearing Outcome in Idiopathic Sudden Sensorineural Hearing Loss

2014 ◽  
Vol 18 (3) ◽  
pp. 131 ◽  
Author(s):  
Ho-Seok Lee ◽  
Ji-Nam Song ◽  
Jung Mee Park ◽  
Kyoung Ho Park ◽  
Hyun bum Kim ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Vestibular Function ◽  
Sudden Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Hearing Outcome

Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss

2009 ◽  
Vol 73 (10) ◽  
pp. 1458-1463 ◽  
Author(s):  
Elona Cama ◽  
Maria Stella Alemanno ◽  
Emanuele Bellacchio ◽  
Rosamaria Santarelli ◽  
Massimo Carella ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Novel Mutation ◽  
Sensorineural Hearing ◽  
Slc26a4 Gene

A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family

2018 ◽  
Vol 63 (6) ◽  
pp. 723-730 ◽  
Author(s):  
Yuyuan Deng ◽  
Zhijie Niu ◽  
LiangLiang Fan ◽  
Jie Ling ◽  
Hongsheng Chen ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Novel Mutation ◽  
Sensorineural Hearing ◽  
Chinese Family
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