Charcot-Marie-tooth disease type 4D (CMT4D) is an early-onset, severe autosomal recessive demyelinating neuropathy, caused by mutations in the N-myc downstream-regulated gene 1 (NDRG1). Because of its rarity and predominance among specific ethnic groups, clinical knowledge remains limited. We report the case of two siblings of Romani ancestry, a 38-year-old man and a 40-year-old woman, with homozygous NM_006096.4:c.442C > T, p.(Arg148*) variant, and provide a review of the current literature.Both patients presented with severe distal-proximal sensorimotor neuropathy, muscle weakness and atrophy, generalized areflexia, and sensorineural deafness typical of CMT4D. Notably, they exhibited previously unreported features including severe dysphagia requiring PEG tube placement, bilateral vocal cord paralysis causing respiratory insufficiency necessitating non-invasive ventilation, and cognitive delay. Visual system involvement was demonstrated through abnormal visual evoked potentials with reduced P100 amplitude and absent responses, expanding the recognized phenotypic spectrum.Our systematic literature review identified 26 articles describing 72 patients with CMT4D. Twenty-two pathogenic NDRG1 variants were documented, with p.(Arg148*) being most frequent (64% of patients), predominantly in Roma populations. The median age of onset was 7 years, 96% of patients presented with lower limb involvement and all presented skeletal deformities were universal, including pes cavus (67%), claw hand (40%), and scoliosis (33%). Hearing impairment affected 61% of patients, while visual system involvement occurred in 17%.This study expands the clinical spectrum of CMT4D by documenting novel manifestations including severe bulbar dysfunction and respiratory involvement. These findings emphasize the importance of comprehensive assessment including swallowing evaluation, vocal cord examination, and pulmonary function testing in CMT4D patients, potentially impacting clinical management and prognosis.

Unilateral vocal fold paralysis secondary to peripheral nerve injury presents limited treatment options and inconsistent outcomes. This protocol describes an electroacupuncture-based cerebral electric field therapy designed to target neuroanatomically relevant pathways through combined scalp, posterior cervical, and anterior neck electroacupuncture. The procedure includes standardized point selection, stimulation parameters, and treatment sequencing, followed by objective functional assessment using laryngoscopy and videofluoroscopic swallowing study. In a representative case, the application of this protocol was associated with observable improvements in voice quality and swallowing function. Patients with unilateral vocal fold paralysis frequently experience hoarseness, dysphagia, aspiration, and reduced laryngeal sensation, leading to substantial functional limitations and decreased quality of life. This protocol demonstrates the feasibility of electroacupuncture-based cerebral electric field therapy as a structured intervention for unilateral vocal fold paralysis and provides a reproducible framework for future clinical exploration. Additional investigation may help clarify its potential role as a supportive therapeutic option. Future controlled studies may further evaluate its clinical effectiveness and applicability.

Transcervical inflatable mediastinoscopic esophagectomy (TIME), with fewer incisions and without going through the thoracic cavity, may achieve the same results and lymph node dissection compared with Thoracoscopic assisted minimally invasive esophagectomy (TAMIE). However, its small visual field increases recurrent laryngeal nerve (RLN) injury risk. Intraoperative nerve monitoring (IONM) reduces RLN paralysis in TAMIE, but few reports have used it in TIME. This paper introduces continuous IONM in TIME to protect RLN. A patient underwent TIME with continuous left RLN monitoring using an EMG endotracheal tube and APS electrode. Stimulation frequency was 1 Hz, with the alarm set at ≥ 50% EMG amplitude reduction or latency prolongation > 10%. The signals are within the normal range during the mediastinal surgery and neck anastomosis. The patient had a normal voice and symmetric vocal cord movement postoperatively. Continuous IONM in TIME may help identify and protect RLN, enabling more aggressive lymph node dissection, though it needs anesthesia cooperation to avoid muscle relaxants. It may be the best method for RLN protection in TIME in the future.

Background: Arytenoid cartilage dislocation (ACD) is a rare but clinically significant complication of endotracheal intubation that may be misdiagnosed as transient vocal cord paralysis. The potential role of prolonged surgical positioning in ACD remains underrecognized. Methods: A 63-year-old male developed left posterior ACD following robot-assisted radical prostatectomy (RARP) performed in a steep Trendelenburg position for 3.5 h. Intubation was successfully achieved on the first attempt using a video laryngoscope with full glottic visualization and no apparent airway trauma. Postoperatively, the patient developed persistent dysphonia, dysphagia, aspiration, and tongue deviation. Initial flexible laryngoscopy suggested left vocal cord paralysis, whereas direct laryngoscopy on postoperative day 6 confirmed posterior arytenoid dislocation. Urgent closed reduction was performed, followed by structured voice therapy, which resulted in substantial functional recovery. Discussion: This case illustrates that ACD may occur despite technically optimal and atraumatic intubation and should be interpreted as reflecting a temporal association rather than a definitive causal relationship. Prolonged steep Trendelenburg positioning and extended operative duration may be considered potential contributing biomechanical factors, possibly mediated by venous congestion, mucosal edema, altered endotracheal tube dynamics, and cumulative shear stress on the cricoarytenoid joint. However, these mechanisms remain interpretive and hypothesis-generating. Conclusions: Prolonged steep Trendelenburg positioning and extended operative duration may represent possible contributing biomechanical factors in ACD, even in the setting of atraumatic intubation. Early laryngeal evaluation and timely reduction remain essential for optimal functional recovery.

PYROXD1-related myopathy is a rare genetic disorder with variable age of onset, ranging from the neonatal period to late adulthood. We report a male infant presenting with congenital hypotonia, progressive severe weakness, respiratory insufficiency, stridor, and ophthalmoplegia. Muscle biopsy revealed fibre size variation, internalized nuclei, and myofibrillary changes with sarcoplasmic disorganization. Genetic testing identified a novel homozygous missense variant in the PYROXD1 gene (NM_024854.5:c.1498G>A, p.Asp500Asn), located at the C-terminal end, affecting the final amino acid before the stop codon. Yeast complementation assays show that transfected yeast express comparable levels of both wild-type and Asp500Asn PYROXD1. However, the Asp500Asn variant cannot protect redox-sensitive cells from oxidative stress as wild-type PYROXD1, indicating functional impairment. This case identifies likely pathogenicity of a novel p. Asp500Asn PYROXD1 missense substitution and highlights new features, including vocal cord paralysis and ophthalmoplegia, thereby expanding the known phenotype of neonatal-onset PYROXD1-related myopathy caused by this variant.

Tapia syndrome is a rare complication characterized by concomitant injury to the hypoglossal and vagus nerves, most commonly associated with airway procedures during general anesthesia. Its incidence is extremely low. Literature review reveals that most reported cases involve Tapia syndrome following posterior cervical spine surgery, with no documented cases of Tapia syndrome occurring after open posterior lumbar spine surgery. We report a case of a patient with intradural lumbar disc herniation who underwent routine lumbar PLIF (posterior lumbar interbody fusion) under general anesthesia. The surgery was uneventful with satisfactory clinical outcomes. However, postoperative hoarseness and tongue deviation were observed. Fiberoptic laryngoscopy revealed fixed abduction of the right vocal cord with normal mobility on the left side, suggesting right vocal cord paralysis and leading to a diagnosis of Tapia syndrome. Active management included neurotrophic agents, glucocorticoids, anti-edema medications, and a rehabilitation plan featuring articulation therapy. At the 2-year postoperative follow-up, hoarseness improved by 90%. Although Tapia syndrome following lumbar surgery is extremely rare, enhancing awareness and understanding of this condition is crucial. Particular attention should be given to patients presenting with hoarseness and deviated tongue protrusion after general anesthesia, ensuring timely detection, prompt diagnosis, and early intervention. This rare case (post-lumbar <5 reported) highlights prone positioning risks; vigilant monitoring and early SLP referral essential; conservative management effective in transient cases. This approach helps prevent misdiagnosis and missed diagnosis, thereby minimizing the adverse impact of complications on patients.

In selected palliative care patients with nasogastric tube syndrome but no signs of acute airway obstruction, conservative management with corticosteroids and proton pump inhibitors may allow safe retention of the tube. This approach balances essential nutritional support and symptom control against the risks of removal.

The integration of artificial intelligence (AI) into surgical navigation represents a pivotal advancement in modern operative medicine. In endoscopic thyroidectomy, safeguarding the recurrent laryngeal nerve (RLN) is of critical importance due to its vulnerability to iatrogenic injury, which affects 3-8% of cases and can lead to serious complications such as vocal cord paralysis. However, existing intraoperative nerve monitoring (IONM) technologies are limited by high costs, operator dependence, and discontinuous signal acquisition. To address the lack of large-scale, annotated datasets essential for training robust deep learning models in real-world surgical settings, we present ThyRLN-PUMCH, the first comprehensive in vivo dataset dedicated to RLN identification in endoscopic thyroid surgery. This dataset comprises 18,178 pixel-level annotated frames from 28 clinically diverse surgical cases. Annotations were performed and validated by board-certified endocrine surgeons through a multi-stage quality control process. We benchmarked two segmentation models to verify their practicability and proved the dataset's capacity to support high-precision RLN segmentation tasks. ThyRLN-PUMCH fills a critical gap in AI assisted head and neck surgery by offering temporally continuous, clinically representative images and annotations. It provides a robust foundation for developing AI-based intraoperative navigation tools aimed at enhancing surgical safety, education, and efficiency in head and neck surgery.