Williams syndrome is a rare genetic disorder occurring in approximately 1 in 7500 individuals. The condition occurs as a result of deletions within chromosome 7q11.23, manifesting a unique phenotype with a wide constellation of symptoms. In this report of two cases, we present the care of two early-term infants with Williams syndrome. The first infant was noted to have bilateral paralysis of the vocal folds and required multidisciplinary care that ultimately mandated home tracheostomy and gastrostomy tube usage, while the second had unilateral vocal cord paralysis and similarly needed continued gastrostomy tube usage and feeding therapy. This dysfunction of the vocal folds was thought to have occurred due to the deletion of the gene region involving elastin, resulting in these atypical findings that increased the complexity of care of these patients. We document the clinical courses of these patients and their treatment regimens.

With the continuous advancement of medical aesthetic technologies, botulinum toxin injection has emerged as a prevalent method for wrinkle removal and facial enhancement. However, improper administration can result in botulism incidents. This article presents a case of poisoning caused by the facial injection of Botulinum Toxin Type A. The patient was successfully treated through comprehensive measures, including the administration of Botulinum Antitoxin Type A, neurotrophic therapy, and functional rehabilitation; however, unilateral vocal cord paralysis persisted. This case underscores the potential for severe complications, such as vocal cord paralysis, arising from improper injections of Botulinum Toxin Type A. Additionally, this article reviews the existing literature concerning vocal cord paralysis.

Vocal cord paralysis is a recognized complication of tracheal and nasogastric tube insertion. When associated with nasogastric tube insertion, it is termed nasogastric tube syndrome (NGTS). This syndrome is classically characterized by a triad of throat pain, presence of a nasogastric tube, and vocal cord paralysis, which is often bilateral. A 75-year-old man developed stridor and dyspnea without throat pain 12 days after tracheal extubation, while a nasogastric tube had remained in place for 18 days. The following day, laryngoscopy performed by an otolaryngologist revealed median vocal cord fixation with bilateral vocal cord paralysis. The bilateral involvement, along with the patient's symptoms and clinical course, supported the diagnosis. A tracheostomy was subsequently performed. Follow-up laryngoscopy revealed residual vocal cord dysfunction, although partial recovery of mobility was observed. NGTS should be considered in the differential diagnosis of vocal cord paralysis in patients with a history of nasogastric tube insertion, even in the absence of throat pain. Early recognition in the postoperative period is essential to guide appropriate management.

Objective: There are limited studies that compare the outcomes of injection laryngoplasty (IL) versus observation in pediatric cardiac surgery patients with vocal fold immobility (VFI). The current study compares outcomes of VFI in pediatric cardiac surgery patients who undergo observation versus those who receive IL treatments. Methods: This is a retrospective case study of 41 pediatric cardiac surgery patients (observation 29 vs IL 12) who had postoperative VFI diagnosed by flexible laryngoscopy from January 1, 2015 to February 1, 2024. The resolution of VFI was based on subsequent normal flexible laryngoscopy and/or modified barium swallow study. The primary outcomes were the rates of gastrostomy tube placement and VFI resolution. Secondary outcomes were time from diagnosis to VFI resolution and time on tube feeds. The two cohorts were compared using two-tailed unpaired t-test, Fisher's exact test, and Mann-Whitney U test as appropriate. Results: There were no statistically significant differences in preoperative and intraoperative characteristics between the two groups. The overall rate of resolution of VFI was 78% (32/41) (observation 83% [24/29] and IL 67% [8/12] [P = .41]). The mean time to VFI resolution was 13.8 months for the IL cohort and 9.9 months for the observation cohort (P = .45). The overall gastrostomy tube placement rate was 44% (18/41) (observation 38% [11/29] vs IL 58% [7/12]% [P = .31]). The mean time on tube feeds for each cohort was the following: observation 13.1 months versus IL 14.9 months (P = .73). Conclusion: There were no statistically significant differences in outcomes between pediatric cardiac surgery patients with VFI who were observed and those who had IL.

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.