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Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.

ABSTRACT: Charcot-Marie-Tooth disease is a heterogeneous group of inherited distal symmetric polyneuropathies associated with mutations in genes encoding components essential for normal functioning of the Schwann cell and axon. TRIM2, encoding a ligase that ubiquitinates the neurofilament light chain, was recently associated with early-onset neuropathy in a single patient. We report a TRIM2 homozygous missense mutation (c.2000A>C; p.D667A) in a patient with peripheral neuropathy and bilateral vocal cord paralysis, allowing for further delineation of the associated phenotypic spectrum.

SUBMITTER: Pehlivan D

PROVIDER: S-EPMC4426057 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature

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Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.

Pehlivan Davut D Coban Akdemir Zeynep Z Karaca Ender E Bayram Yavuz Y Jhangiani Shalini S Yildiz Edibe Pembegul EP Muzny Donna D Uluc Kayihan K Gibbs Richard A RA Elcioglu Nursel N Lupski James R JR Harel Tamar T

Human genetics 20150417 6

Charcot-Marie-Tooth disease is a heterogeneous group of inherited distal symmetric polyneuropathies associated with mutations in genes encoding components essential for normal functioning of the Schwann cell and axon. TRIM2, encoding a ligase that ubiquitinates the neurofilament light chain, was recently associated with early-onset neuropathy in a single patient. We report a TRIM2 homozygous missense mutation (c.2000A>C; p.D667A) in a patient with peripheral neuropathy and bilateral vocal cord p ...[more]

PMID: 25893792

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Arytenoid cartilage dislocation mimicking bilateral vocal cord paralysis: A case report.

Project description:RationaleArytenoid dislocation is very rare and may be misdiagnosed as vocal cord paralysis or a self-limiting sore throat.Patient concernsA 70-year-old male (70?kg, 156?cm) was scheduled for transurethral resection of bladder tumors. A McGrath videolaryngoscope, with a basic cuffed Mallinckrodt oral tracheal tube of 7.5?mm internal diameter, was used to successfully intubate his trachea. The duration of surgery was 25?minutes. In the recovery room, he complained of sore throat and dyspnea with inspiratory stridor, which were not resolved after intravenous injection of 10?mg of dexamethasone.DiagnosesThe otolaryngological examination revealed midline fixation of the bilateral vocal folds, suggestive of bilateral arytenoid dislocation or bilateral vocal cord palsy. The latter was ruled out because there was no evidence of recurrent laryngeal nerve injury.InterventionsUnder general anesthesia, a closed reduction was performed using laryngoscopic forceps to apply posterolateral pressure on the arytenoid joints on both sides. Only the dislocation of the left cricoarytenoid joint could be easily reduced, whereas reduction of the right joint was not possible.OutcomesOn postoperative day 7, examination with a rigid laryngoscope showed a medially fixed right vocal fold, with full compensation by the left vocal fold. Computed tomography of the neck showed no pathologic findings. Six weeks after surgery, the patient had regained his normal voice with no complications.LessonsAlthough arytenoid dislocation is a rare complication, it should be considered even in patients with uncomplicated tracheal intubation. Early diagnosis and the optimal therapeutic approach are critical for restoration of the patient's original vocal cord function.

| S-EPMC5690745 | biostudies-literature

Bilateral Vocal Cord Paralysis Associated with Meningeal Carcinomatosis from Lung Adenocarcinoma.

Project description:Cranial neuropathy is a clinical manifestation of meningeal carcinomatosis (MC); however, the glossopharyngeal and vagus nerves are rarely impaired. Therefore, dysphagia and bilateral vocal cord paralysis (BVCP) are extremely rare manifestations of MC. Here, we present a case of MC from a lung adenocarcinoma presenting with dysphagia and BVCP. An 84-year-old man with a 4-year history of left lung adenocarcinoma developed dysphagia and hoarseness. Flexible nasopharyngoscopy revealed BVCP. Ten days later, the patient developed stridor and respiratory distress. A tracheotomy was performed to prevent airway obstruction. Gadolinium-enhanced magnetic resonance imaging (MRI) of the brain showed enhancement of the bilateral glossopharyngeal and vagus nerves, and several enhancing lesions in the right internal auditory canal, left cerebellum, fourth ventricle, pons, cerebral aqueduct, and right frontal lobe, suggesting MC and brain metastasis. Based on the clinical history of malignancy and the MRI findings, the patient was diagnosed with MC. As the patient refused additional treatment, including chemotherapy and radiation, only palliative care was provided. To the best of our knowledge, this was the first case of MC from a solid tumor presenting with BVCP. When patients with malignancy present with BVCP, MC should be considered.

| S-EPMC9209992 | biostudies-literature

Unilateral and Bilateral Laryngeal Pacing for Bilateral Vocal Fold Paralysis.

Project description:Purpose of reviewPresent the state-of-the-art overview of laryngeal pacing for treatment of bilateral vocal fold paralysis. A minimally invasive unilateral pacing system and a fully implantable bilateral pacing system are currently in clinical trials. The relative advantages and disadvantages of each are discussed.Recent findingsResearch in functional electrical stimulation for the reanimation of the posterior cricoarytenoid muscle has successfully translated from animal models to human clinical trials for unilateral pacing and bilateral pacing. Current findings suggest unilateral pacing in humans significantly improves ventilation but only marginally better than cordotomy. Bilateral pacing in canines increases glottal opening greater than 2-fold over unilateral pacing and restores exercise tolerance to normal.SummaryUnilateral pacing can be considered a breathing assist device and may not be appropriate for active individuals. Bilateral pacing may be preferable for patients who wish to engage in strenuous exercise. Minimally invasive systems may be ideal for patients who prefer less invasive implantation and are not concerned with cosmesis. Fully implantable pacing systems offer greater electrode redundancy and stability, resulting in a system that is robust against electrode migration or damage.

| S-EPMC8171271 | biostudies-literature

Dynamic 320-slice CT larynx for detection and management of idiopathic bilateral vocal cord paralysis.

Project description:Idiopathic bilateral vocal cord paralysis (VCP) is a rare and difficult condition often undiagnosed and frequently confused with asthma and other respiratory conditions. Accurate diagnosis is crucial since 80% of cases patients require surgical intervention, such as tracheostomy or laser surgery, to relieve symptoms. The "gold standard" for diagnosing VCP has been laryngoscopy. In this case study, we demonstrate for the first time that idiopathic bilateral VCP can be accurately diagnosed by means of a novel noninvasive methodology: dynamic volume 320-slice computed tomography larynx. Three-dimensional reconstruction of laryngeal motion during the breathing cycle permitted functional assessment of the larynx showing absence of vocal cord movements. The new methodology may be valuable for noninvasive diagnosis of vocal cord movement disorders before and for follow-up after surgery.

| S-EPMC4184725 | biostudies-literature

Bilateral Vocal Fold Paralysis After COVID-19 mRNA Vaccination: A Case Report.

Project description:Since severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was noted to cause coronavirus disease 2019 (COVID-19) in 2019, there have been many trials to develop vaccines against the virus. Messenger ribonucleic acid (mRNA) vaccine as a type of the vaccine has been developed and commercialized rapidly, but there was not enough time to verify the long-term safety. An 82-year-old female patient was admitted to the emergency room with dyspnea accompanied by stridor three days after the 3rd COVID-19 mRNA vaccination (Comirnaty, Pfizer-BioNTech, USA). The patient was diagnosed with bilateral vocal fold paralysis (VFP) by laryngoscope. Respiratory distress was improved after the intubation and tracheostomy in sequence. The brain, chest, and neck imaging tests, serological tests, cardiological analysis, and immunological tests were performed to evaluate the cause of bilateral VFP. However, no definite cause was found except for the precedent vaccination. Because bilateral VFP can lead to a fatal condition, a quick evaluation is necessary in consideration of VFP when dyspnea with stridor occurs after vaccination.

| S-EPMC9239840 | biostudies-literature

Bilateral Vocal Fold Paralysis in Myasthenia Gravis: A Case Report and Literature Review.

Project description:To prevent severe and potentially life-threatening consequences of bilateral vocal fold paralysis (BVFP), the identification and management of reversible causes is pivotal. Myasthenia gravis (MG) presenting with BVFP is rarely reported and remains incompletely understood. Although symptom control is achievable for most MG patients with sufficient therapy, atypical clinical presentation such as BVFP might preclude diagnosis and thus effective treatment. Here, we present a case of BVFP as leading manifestation of MG successfully treated with plasmapheresis. Moreover, we performed a literature review of the few existing cases reported between 1980 and 2020 indicating that elderly patients are particularly at risk for MG presenting with severe BVFP and that edrophonium testing with fiber optic endoscopic evaluation of swallowing (FEES) might be valuable for establishing the diagnosis. We conclude that clinicians should consider MG as possible and reversible cause for BVFP.

| S-EPMC7593483 | biostudies-literature

Reinnervation of bilateral posterior cricoarytenoid muscles using the left phrenic nerve in patients with bilateral vocal fold paralysis.

Project description:ObjectiveTo evaluate the feasibility, effectiveness, and safety of reinnervation of the bilateral posterior cricoarytenoid (PCA) muscles using the left phrenic nerve in patients with bilateral vocal fold paralysis.MethodsForty-four patients with bilateral vocal fold paralysis who underwent reinnervation of the bilateral PCA muscles using the left phrenic nerve were enrolled in this study. Videostroboscopy, perceptual evaluation, acoustic analysis, maximum phonation time, pulmonary function testing, and laryngeal electromyography were performed preoperatively and postoperatively. Patients were followed-up for at least 1 year after surgery.ResultsVideostroboscopy showed that within 1 year after reinnervation, abductive movement could be observed in the left vocal folds of 87% of patients and the right vocal folds of 72% of patients. Abductive excursion on the left side was significantly larger than that on the right side (P < 0.05); most of the vocal function parameters were improved postoperatively compared with the preoperative parameters, albeit without a significant difference (P > 0.05). No patients developed immediate dyspnea after surgery, and the pulmonary function parameters recovered to normal reference value levels within 1 year. Postoperative laryngeal electromyography confirmed successful reinnervation of the bilateral PCA muscles. Eighty-seven percent of patients in this series were decannulated and did not show obvious dyspnea after physical activity. Those who were decannulated after subsequent arytenoidectomy were not included in calculating the success rate of decannulation.ConclusionsReinnervation of the bilateral PCA muscles using the left phrenic nerve can restore inspiratory vocal fold abduction to a physiologically satisfactory extent while preserving phonatory function at the preoperative level without evident morbidity.

| S-EPMC3788721 | biostudies-literature

Cordoplasty: a new technique for managing bilateral vocal cord paralysis and its comparison with posterior cordotomy and external procedure in a large study group.

Project description:To compare the functional results between posterior cordotomy, cordoplasty and external procedure in managing bilateral vocal cord paralysis in one of the largest published study group. Retrospective and comparative study. 54 patients with bilateral vocal cord paralysis who underwent posterior cordotomy (Group-I), cordoplasty (Group-II) and external procedure (Group-III) from 2001 to 2013 were compared for functional outcomes. Successful decannulation was achieved more in Group-I and II than in Group-III. Voice outcome was better in Group-II patients compared to other groups. Outcomes of cordoplasty was better than posterior cordotomy and external procedures, with acceptable airway and good quality of voice. Posterior cordotomy is preferred in patients without tracheostomy and in pediatric patients. In patients with tracheostomy or who accept temporary tracheostomy, a cordoplasty is preferred for favorable voice. External procedure is preferred for patients not fit for general anesthesia.

| S-EPMC4298615 | biostudies-literature

Therapy of bilateral vocal fold paralysis: Real world data of an international multi-center registry.

Project description:PurposeTo collect data on diagnosis, treatment, patient's management, and quality of life in patient with bilateral vocal fold paralysis (BVFP).MethodsA retrospective, observational, multicenter registry study was performed. Medical records of 326 adults with permanent BVFP (median age: 61 years; 70% female, 60% after thyroid surgery) generated between 2010 and 2017.ResultsMedian time between BVFP onset and inclusion was 1.2 years. Median post-treatment follow-up was 2 months (range: 0-42). Surgery was treatment of choice in 61.7% of the cases, with a 2-year revision rate of 32.4%. Prior to inclusion, 40.2% of the patients underwent at least one surgery. For tracheotomized patients, decannulation rate was 33.8%. Non-surgical treatments included voice therapy and botulinum toxin injection. Corticosteroid application was the most frequent treatment for post-treatment complications (18%; 1-month after surgery). Older age was an independent predictor for dyspnea (Hazard ratio [HR] = 1.041; CI = 1.005 to 1.079; p = 0.026) and the need for oxygen treatment (HR = 1.098; CI = 1.009 to 1.196; p = 0.031). Current alcohol consumption (HR = 2.565; CI = 1.232 to 5.342; p = 0.012) and a cancer-related etiology (HR = 4.767; CI = 1.615 to 14.067; p = 0.005) were independent factors of higher revision risk.ConclusionsSurgery for BVFP is currently not standardized but highly variable. Postoperative and BVFP-related complications and revision surgery are frequent. Complications are linked to patients' alcohol drinking habits and BVFP etiology. These results shall be confirmed by the upcoming evaluation of the prospective data of this registry.

| S-EPMC6488092 | biostudies-literature

Surgical Management of Bilateral Vocal Fold Paralysis in Children: A Systematic Review and Meta-analysis.

Project description:ObjectivesTo examine and compare the outcomes of various types of glottic widening surgery (GWS) for initial management of bilateral vocal fold paralysis (BVFP) in children, the outcomes of different GWS procedures in children who underwent initial tracheostomy, and the rate of decannulation in children who underwent tracheostomy alone versus tracheostomy followed by GWS.Data sourcesPubMed, Web of Science, Cochrane Library, and Embase were searched following the PRISMA guidelines (Preferred Reporting Items for Systematic Reviews and Meta-analyses) on September 9, 2019, with no date restriction.Review methodsArticles focusing on GWS or tracheostomy for initial management of BVFP were included. Articles describing patients who received no surgical intervention for BVFP were excluded.ResultsA total of 5989 articles were reviewed: 67 articles met inclusion criteria, and 240 patients were incorporated into the analysis. Patients who underwent primary GWS had an eventual tracheostomy rate of 6.0% (5/83). There were no statistically significant differences in the rate of tracheostomy, reoperation, or mortality among cricoid split, suture lateralization, and cordectomy/cordotomy. Patients who underwent primary tracheostomy failed to achieve decannulation in 36.9% (58/157) of cases. Decannulation was more likely in tracheostomized children who received GWS than those who did not (odds ratio, 6.336; P < .0001).ConclusionsMost children who undergo primary GWS for BVFP avoid tracheostomy or reoperation. These data demonstrated no differences in surgical outcomes among the most common types of GWS for BVFP. For children who receive a tracheostomy as their first intervention for BVFP, GWS is associated with a significantly improved rate of decannulation.

| S-EPMC10042623 | biostudies-literature

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