Cohesinopathy presenting with microtia, facial palsy and hearing loss caused by STAG1 pathogenic variant

2021 ◽  
Author(s):  
Michinori Funato ◽  
Tomoko Uehara ◽  
Yuuki Okada ◽  
Hideo Kaneko ◽  
Kenjiro Kosaki
Keyword(s):  
Hearing Loss ◽  
Facial Palsy ◽  
Pathogenic Variant

scholarly journals Concurrent genetic and standard screening test for hearing reduction

2020 ◽  
Vol 66 (2) ◽  
pp. 35-40
Author(s):  
Marina Davcheva Chakar ◽  
Gjorgji Bozhinovski ◽  
Emilija Shukarova Stefanovska ◽  
Dejan Trajkov
Keyword(s):  
Hearing Loss ◽  
Hearing Impairment ◽  
Genetic Screening ◽  
Screening Test ◽  
Screening Program ◽  
Deaf Child ◽  
Hearing Screening ◽  
Pathogenic Variant ◽  
Gjb2 Gene ◽  
Brainstem Response

Reduction of hearing is the most common sensory impairment among newborns with an incidence of 1-3 per 1000 births. Introduction of an Auditory Newborn screening program allows early identification of hearing impairment. Mainly, congenital hearing loss in early childhood is a result of genetic changes. Due to high frequency of GJB2 pathogenic variants, its molecular characterization among sensorineural hearing reduction cases is already conducted as a routine analysis in many countries. The aim of this study is to show our initial results in the effort to determine whether genetic screening along with the standard hearing screening in newborns is justified. Otoacoustic emission (OAE) method was conducted in 223 newborns at risk of hearing impairment. Among them, 7 did not pass the test in both ears while 9 exhibited one-sided hearing loss. In all 7 children with indication of profound bilateral deafness, the diagnosis was confirmed using auditory brainstem response. Genetic screening of GJB2 gene was performed in 6 of them. Genetic analysis of GJB2 revealed homozygous state of the most common pathogenic variant 35delG in 3 (50%) of the analyzed infants. In the remaining 3 no pathogenic variant was determined. The results indicate that performing auditory OAE together with genetic screening is justified. In newborns who have not passed the hearing screening test and have profound hearing loss, without other syndrome traits, screening for mutations of GJB2 gene should be conducted. Genetic screening enables establishment of early definite diagnosis for deafness and helps in conducting adequate therapy providing timely rehabilitation and social inclusion of deaf child. Key words: hearing loss, genetic screening, auditory screening, GJB2 gene

A New Application of Gelatin Sponge in the Treatment of Hemifacial Spasm by Microvascular Decompression: A Technical Note

2021 ◽  
Author(s):  
Bowen Chang ◽  
Yinda Tang ◽  
Xiangyu Wei ◽  
Shiting Li
Keyword(s):  
Hearing Loss ◽  
Hemifacial Spasm ◽  
Microvascular Decompression ◽  
Facial Palsy ◽  
Poor Response ◽  
Technical Note ◽  
Gelatin Sponge ◽  
Group Differences ◽  
Success Rates

Abstract Objectives Microvascular decompression (MVD) for facial nerve remains the highly efficient hemifacial spasm (HFS) treatment. Nonetheless, a variety of cases have poor response to MVD. Using Teflon plus gelatin sponge in MVD seems to be a good solution. No existing study has examined the efficacy of using Teflon combined with gelatin sponge during MVD for HFS. Therefore, this study aimed to compare the efficacy of Teflon combined with gelatin sponge in HFS patients relative to that of Teflon alone. Patients and Methods We retrospectively compared the follow-up results of patients treated with Teflon and gelatin sponge with those treated with Teflon alone previously. Six hundred and eighty-eight primary HFS patients undergoing surgery from January 2010 to January 2018 were retrospectively analyzed. Three hundred and forty-seven cases received simple Teflon, while 342 cases underwent Teflon combined with gelatin sponge. Results In the Teflon plus gelatin sponge group, the incidences of facial palsy and hearing loss at 1 day, 1 year, and 2 years following surgery was significantly lower than those in the simple Teflon group. Differences in the success rates between Teflon plus gelatin sponge and the simple Teflon group were not statistically significant at 1 day, 1 year, and 2 years after surgery. The recurrence rate in the Teflon plus gelatin sponge group was significantly lower at 2 years. Conclusion For HFS patients undergoing MVD, using Teflon plus gelatin sponge can remarkably reduce the incidence of recurrence, facial palsy, and hearing loss compared with those using Teflon alone.

ENT emergencies

2019 ◽  
pp. 441-464
Author(s):  
Rogan Corbridge ◽  
Nicholas Steventon
Keyword(s):  
Hearing Loss ◽  
Blood Loss ◽  
Facial Palsy ◽  
Foreign Bodies ◽  
Sudden Hearing Loss ◽  
Severe Epistaxis ◽  
Nose And Throat

This chapter outlines the management of common ear, nose, and throat (ENT) emergencies. The assessment of blood loss and its treatment in the context of severe epistaxis or post-tonsillectomy haemorrhage are detailed. Protocols for dealing with fractured noses, sudden hearing loss, sudden facial palsy, and foreign bodies are discussed.

scholarly journals Myelopathy and adult T-cell leukemia associated with HTLV-1 in a young patient with hearing loss as the initial manifestation of disease

2009 ◽  
Vol 42 (3) ◽  
pp. 336-337 ◽  
Author(s):  
Denise Utsch Gonçalves ◽  
Lílian Felipe ◽  
Anna Bárbara Carneiro-Proietti ◽  
Antônio Carlos Guedes ◽  
Olindo Assis Martins-Filho ◽  
...  
Keyword(s):  
Hearing Loss ◽  
T Cell ◽  
Neurological Examination ◽  
Facial Palsy ◽  
Peripheral Blood ◽  
Cervical Lymphadenopathy ◽  
Young Male ◽  
Cell Leukemia ◽  
Initial Manifestation ◽  
Adult T Cell Leukemia

A young male developed hearing loss, vertigo, headache and facial palsy. Neurological examination did not show any abnormalities. Two years later, cervical lymphadenopathy, hepatosplenomegaly and atypical lymphocytes in peripheral blood revealed leukemia. At the same time, acquired ichthyosis was observed. Subsequently, neurological abnormalities revealed myelopathy associated with HTLV-1, due to vertical transmission.

Outcome following retrosigmoid microvascular decompression of the facial nerve for hemifacial spasm

2005 ◽  
Vol 119 (10) ◽  
pp. 779-783 ◽  
Author(s):  
D A Moffat ◽  
V S P Durvasula ◽  
A Stevens King ◽  
R De ◽  
D G Hardy
Keyword(s):  
Hearing Loss ◽  
Facial Nerve ◽  
Hemifacial Spasm ◽  
Microvascular Decompression ◽  
Retrospective Review ◽  
Facial Palsy ◽  
Complete Resolution ◽  
Symptom Control ◽  
Short Term

This paper evaluates the outcome of retrosigmoid microvascular decompression of the facial nerve in a series of patients suffering from hemifacial spasm who had been referred to the skull-base team (comprising senior authors DAM and DGH). The paper is a retrospective review of 15 patients who underwent retrosigmoid microvascular decompression of the facial nerve at Addenbrooke's Hospital between 1985 and 1995. In this series it was possible to obtain complete resolution of hemifacial spasm in 93.3 per cent of cases in the short term and in 80 per cent in the long term. Twelve patients (80 per cent) were symptom-free post-operatively. Two patients had minor recurrence of symptoms occurring within six months of the procedure. One patient with no identifiable vascular impingement of the facial nerve had no improvement following surgery. Three patients suffered sensorineural hearing loss. Two patients complained of post-operative tinnitus, and transient facial palsy was noted in one patient.Retrosigmoid microvascular decompression of the facial nerve provides excellent long-term symptom control in a high percentage of patients with hemifacial spasm.

Hearing loss and facial palsy as presenting symptoms of a schwannoma of the jugular foramen

2004 ◽  
Vol 2 (2) ◽  
pp. 131-133
Author(s):  
Domenico Leonardo Grasso ◽  
Francesco Carinci ◽  
Stefano Pelucchi ◽  
Calzolari Ferdinando ◽  
Alessandro Martini
Keyword(s):  
Hearing Loss ◽  
Facial Palsy ◽  
Jugular Foramen ◽  
Presenting Symptoms

scholarly journals Anterior inferior cerebellar artery aneurysms: Segments and results of surgical and endovascular managements

2016 ◽  
Vol 22 (6) ◽  
pp. 643-648 ◽  
Author(s):  
Xianli Lv ◽  
Huijian Ge ◽  
Hongwei He ◽  
Chuhan Jiang ◽  
Youxiang Li
Keyword(s):  
Hearing Loss ◽  
Subarachnoid Hemorrhage ◽  
Surgical Treatment ◽  
Endovascular Treatment ◽  
Patient Outcomes ◽  
Facial Palsy ◽  
Artery Aneurysm ◽  
Anterior Inferior Cerebellar Artery ◽  
Cerebellar Artery ◽  
Cerebellar Symptoms

Background Anterior inferior cerebellar artery (AICA) aneurysms are rare and published clinical experience with these aneurysms is limited. Objective The objective of this article is to report angiographic characteristics and results associated with premeatal, meatal and postmeatal segments, surgical and endovascular therapies. Methods A literature review was performed through PubMed using “anterior inferior cerebellar artery aneurysm” through January 2016. Clinical data, angiograms, management techniques, and patient outcomes were reviewed for 47 collected cases in 30 previous reports. Results Of these aneurysms, 21 (44.7%) were associated with meatal segment, 10 (21.3%) were postmeatal and 16 (34.0%) were premeatal. Patients with meatal aneurysms are more likely to present with subarachnoid hemorrhage and hearing loss and facial palsy (77.8%). Patient outcomes of meatal aneurysms presented with more neuropathies (51.7%) and cerebellar symptoms (14.3%) ( p = 0.049). Four cases of meatal aneurysm with preoperative cranial nerve deficits (two VII and two VIII) showed improvement after surgery. Endovascular treatment achieved outcomes similar to surgical treatment ( p = 0.327). Conclusions AICA aneurysms have a predilection for meatal segment. Patients with meatal aneurysms are more likely to present with subarachnoid hemorrhage and hearing loss and facial palsy. Patient outcomes of meatal aneurysms presented with more neuropathies and cerebellar symptoms. Endovascular treatment achieved outcomes similar to surgical treatment.

scholarly journals The mitochondrial COI/tRNASER(UCN) G7444A mutation may be associated with hearing impairment in a Han Chinese family

2017 ◽  
Vol 20 (2) ◽  
pp. 43-49
Author(s):  
Y Ding ◽  
B-H Xia ◽  
Y-S Teng ◽  
G-C Zhuo ◽  
J-H Leng
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Genome ◽  
Age At Onset ◽  
Han Chinese ◽  
Pathogenic Variant ◽  
Chinese Family ◽  
12S Rrna ◽  
Pathogenic Variants ◽  
Functional Variants ◽  
High Penetrance

Abstract Variations in mitochondrial genome have been found to be associated with hearing loss. Of these, the mitochondrial 12S rRNA and tRNASer(UCN) are the hot-spots for pathogenic variants associated with deafness. To understand the putative role of mitochondrial DNA (mtDNA) variants in hearing loss, we recently screened the variants in mitochondrial genomes in patients with deafness from the Hangzhou area of Zhejiang Province, People’s Republic of China (PRC). In this study, we describe a maternally-inherited Han Chinese family with high penetrance of hearing loss, notably, the penetrance of hearing loss in this family were 80.0 and 40.0%, when the aminoglycoside was included or excluded. Three matrilineal relatives in this pedigree exhibited different levels of hearing loss with different age at onset. In addition, sequence analysis of the complete mitochondrial genome showed the presence of the well-known C1494T pathogenic variant in the 12S rRNA gene and the G7444A pathogenic variant in the COI/ tRNASer(UCN). The C1494T anomaly had been reported to be a pathogenic mutation associated with aminoglycoside-induced and nonsyndromic hearing loss (AINHL), while the G7444A was considered as a secondary mutation associated with deafness. However, the lack of functional variants in GJB2 and TRMU genes suggested that nuclear modified genes may not play important roles in deafness expression. Thus, the combination of G7444A and C1494T pathogenic variants in the mitochondrial genome may account for the high penetrance of hearing loss in this Chinese family.

scholarly journals Rare Occurrence of Internal Auditory Canal Stenosis Accompanied With Congenital Facial Palsy in a 3-Month-Old Infant: A Case Report

2020 ◽  
Vol 44 (3) ◽  
pp. 256-259
Author(s):  
Se-Heum Park ◽  
Woo-Jin Kim ◽  
Yun-Jung Lim ◽  
Cheol-Won On ◽  
Ji-Ho Park ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Case Report ◽  
Developmental Delay ◽  
Facial Palsy ◽  
Internal Auditory Canal ◽  
Magnetic Resonance Imaging Scan ◽  
Developmental Assessment ◽  
Canal Stenosis ◽  
The Brain ◽  
Tomography Scan

Internal auditory canal (IAC) stenosis with hypoplasia of the facial and vestibulocochlear nerves is a rare cause of congenital facial palsy. In this case report, a 3-month-old female infant was referred for a neurological developmental assessment for developmental delay and congenital facial palsy. Upon evaluation of developmental delay, hearing loss was detected. Following a magnetic resonance imaging scan of the brain and a computed tomography scan of the temporal bone, IAC stenosis with hypoplasia of facial and vestibular nerves was diagnosed. This is a rare case of IAC stenosis in an infant with initial presentations of left facial palsy and developmental delay associated with hearing loss in the left ear. We strongly suggest that IAC stenosis be considered a cause of congenital facial palsy in infants, especially in patients with developmental delay. In infants with congenital facial palsy, a thorough physical examination and neurological developmental assessment should be performed.

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