Pediatric Salivary Gland Pathology.

Benign and malignant salivary gland disorders are uncommon in the pediatric population; however, these can be frequently seen in pediatric otolaryngology or oral and maxillofacial surgery practices. The astute clinician should be aware of the clinical presentation, diagnosis, and management options for common inflammatory, infectious, benign, and malignant disorders of salivary glands.

Injection Medialization in Infants with Vocal Fold Immobility Improves Dysphagia.

BACKGROUND: Unilateral vocal fold immobility (VFI) is a known cause of morbidity amongst children following congenital heart surgery. Injection medialization (IM) provides medial distraction and improves glottic closure. Limited objective data is available for the effect of IM in young children (<2 years-old) with VFI. METHODS: Retrospective case series of infants <2 who underwent IM for VFI after congenital cardiac surgery. Primary outcome was objective reduced risk of aspiration based on Dysphagia and Outcome Severity Scores (DOSS) on Video swallow study (VFSS) performed prior to and within 4 weeks following IM. Secondary analysis included perioperative complications and number of children who were able to avoid NG or G tube placement. RESULTS: 17 children <2 years of age had unilateral VFI after congenital cardiac surgery and underwent IM. The median age at time of initial cardiac surgery was 6 days (IQR 3-7). There was no intraoperative or postoperative stridor or associated complications. All 17 patients had preoperative aspiration noted on VFSS. Average swallowing outcomes on VFSS improved after IM with an increase in DOSS score (preop score 3 (IQR 2-4) to postop score 6.5 (IQR 5-7) [P = 0.001]). At 2 months following IM, of the patients who had improvement in swallowing function, 50% (n = 6) were able to feed completely orally, 25% (n = 3) were fed orally with an NG wean, and 3 (25%) had a G tube placed. CONCLUSION: Initial results suggest that IM is safe and improves early objective swallowing outcomes in children <2 years old with VFI after congenital cardiac surgery. LEVEL OF EVIDENCE: IV Laryngoscope, 2024.

Multidisciplinary Advanced Surgical Planning for Slide Tracheoplasty Using 3D-Printed Models.

OBJECTIVE: The objective of this study was to develop and assess multidisciplinary advanced surgical planning (ASP) sessions using three dimensional (3D) printed models for cervicothoracic slide tracheoplasty (CST). We hypothesized that these sessions would improve surgeon confidence, streamline intraoperative planning, and highlight the utility of 3D modeling. METHODS: 3D-printed patient-specific trachea models were used in pre-operative ASP sessions consisting of a multidisciplinary case discussion and hands-on slide tracheoplasty simulation. Participants completed a survey rating realism, utility, impact on the final surgical plan, and pre- and post-session confidence. Statistical analysis was performed via Wilcoxon and Kruskal-Wallis tests. RESULTS: Forty-eight surveys were collected across nine sessions and 27 different physicians. On a 5-point Likert scale, models were rated as "very realistic", "very useful" (both median of 4, IQR 3-4 and 4-5, respectively). Overall confidence increased by 1.4 points (+/- 0.7, p < 0.0001), with the largest change seen in those with minimal prior slide tracheoplasty experience (p = 0.005). Participants felt that the sessions "strongly" impacted their surgical plan or anticipated performance (median 4, IQR 4-5), regardless of training level or experience. CONCLUSION: 3D-printed patient-specific models were successfully implemented in ASP sessions for CST. Models were deemed very realistic and very useful by surgeons across multiple specialties and training levels. Surgical planning sessions also strongly impacted the final surgical plan and increased surgeon confidence for CST. LEVEL OF EVIDENCE: IV Laryngoscope, 2024.

Surface Reconstruction of the Pediatric Larynx via Structure from Motion Photogrammetry: A Pilot Study.

Endoscopy is the gold standard for characterizing pediatric airway disorders, however, it is limited for quantitative analysis due to lack of three-dimensional (3D) vision and poor stereotactic depth perception. We utilize structure from motion (SfM) photogrammetry, to reconstruct 3D surfaces of pathologic and healthy pediatric larynges from monocular two-dimensional (2D) endoscopy. Models of pediatric subglottic stenosis were 3D printed and airway endoscopies were simulated. 3D surfaces were successfully reconstructed from endoscopic videos of all models using an SfM analysis toolkit. Average subglottic surface error between SfM reconstructed surfaces and 3D printed models was 0.65 mm as measured by Modified Hausdorff Distance. Average volumetric similarity between SfM surfaces and printed models was 0.82 as measured by Jaccard Index. SfM can be used to accurately reconstruct 3D surface renderings of the larynx from 2D endoscopy video. This technique has immense potential for use in quantitative analysis of airway geometry and virtual surgical planning.

Preoperative Imaging and Surgical Findings in Pediatric Frontonasal Dermoids.

OBJECTIVE: To review cases of congenital frontonasal dermoids to gain insight into the accuracy of preoperative computed tomography (CT) and magnetic resonance imaging (MRI) in predicting intracranial extension. METHODS: This retrospective study included all patients who underwent primary excision of frontonasal dermoids at an academic children's hospital over a 23-year period. Preoperative presentation, imaging, and operative findings were reviewed. Receiver operating characteristic (ROC) statistics were generated to determine CT and MRI accuracy in detecting intracranial extension. RESULTS: Search queries yielded 129 patients who underwent surgical removal of frontonasal dermoids over the study period with an average age of presentation of 12 months. Preoperative imaging was performed on 122 patients, with 19 patients receiving both CT and MRI. CT and MRI were concordant in the prediction of intracranial extension in 18 out of 19 patients. Intraoperatively, intracranial extension requiring craniotomy was seen in 11 patients (8.5%). CT was 87.5% sensitive and 97.4% specific for predicting intracranial extension with an ROC of 0.925 (95% CI [0.801, 1]), whereas MRI was 60.0% sensitive and 97.8% specific with an ROC of 0.789 (95% CI [0.627, 0.950]). CONCLUSION: This is the largest case series in the literature describing a single institution's experience with frontonasal dermoids. Intracranial extension is rare and few patients required craniotomy in our series. CT and MRI have comparable accuracy at detecting intracranial extension. Single-modality imaging is recommended preoperatively in the absence of other clinical indications. LEVEL OF EVIDENCE: 4 Laryngoscope, 134:1961-1966, 2024.

Impact of Ketorolac on Reoperation for Hemorrhage After Pediatric Tonsillectomy: A Single-Center Retrospective Propensity-Matched Study.

OBJECTIVE: To determine if perioperative ketorolac is associated with an increased rate of reoperation for hemorrhage after pediatric tonsillectomy at 30 days and 48 hours. STUDY DESIGN: Single-center retrospective propensity-matched study. SETTING: Quaternary pediatric hospital and ambulatory surgery center. METHODS: Patients less than 18 years old undergoing tonsillectomy or adenotonsillectomy between January 1, 2015 and October 1, 2020 were included. Hemorrhage rates between exposed (K+) and unexposed (K-) patients were calculated for the total cohort and a 1:1 propensity-matched cohort. Additional analyses included: multivariable logistic regression, subgroup analysis of ASA 1 and 2 patients, subgroup analysis comparing children with teenagers. RESULTS: There were 5873 patients (42.1% K+) in the full cohort and 4694 patients in the propensity-matched cohort. Reoperation for hemorrhage within 30 days occurred in 1.9% of K+ patients and 1.6% of K- patients (P = 0.455) in the full cohort and 1.9% of K+ patients and 1.7% of K- patients (odds ratio [OR] 1.10, 95% confidence interval [CI] 0.72-1.69, P = 0.662) in the propensity-matched cohort. Reoperation within 48 hours occurred in 0.65% of K+ patients and 0.53% of K- patients (P = 0.679) in the full cohort and 0.68% of K+ patients and 0.51% of K- patients (OR 1.33, 95% CI 0.63-2.81, P = 0.451) in the propensity-matched cohort. There was no association between perioperative ketorolac administration and reoperation for hemorrhage in any of the other analyses. CONCLUSION: Ketorolac at end of surgery should be considered as part of the nonopioid analgesic regimen for pediatric tonsillectomy.

Ultrasound Screening After Cardiac Surgery Shows Vocal Fold Impairment and Predicts Aspiration.

INTRODUCTION: Vocal fold motion impairment (VFMI) is a known consequence after high-risk cardiac surgery. We implemented a universal laryngeal ultrasound (LUS) screening protocol for VFMI after the Norwood and aortic arch surgery. We hypothesized that LUS would accurately identify VFMI and predict postoperative aspiration. METHODS: We implemented a screening algorithm with LUS for patients undergoing high-risk cardiac surgery at a tertiary care pediatric hospital. Positively screened patients underwent flexible nasolaryngoscopy (FNL). Patients with an abnormal FNL underwent a video-fluoroscopic swallow study (VFSS). Patient demographics, length of stay, and swallowing outcomes were assessed. Two-tailed chi square and Wilcoxon rank sum tests were used to assess for differences. RESULTS: Sixty-seven patients underwent either Norwood or arch reconstruction over a 16-month period and underwent universal LUS. The average birth weight was 3.24 kg (SD 0.57). Of the 67 patients, VFMI was identified by LUS and 100% confirmed on FNL in 58.21% (n = 39/67) of patients. Aspiration and penetration on VFSS were higher in the group with VFMI as compared with those without VFMI (53.8% vs. 21.4%, p = 0.008). There was no difference in length of stay between patients who did not have a diagnosis of VFMI and those found to have VFMI (41.0 days vs 45.3 days p = 0.73). CONCLUSIONS: Universal LUS screening for patients following high-risk cardiac surgery may lead to earlier identification of postoperative VFMI and aspiration. Recognition of VFMI through this universal screening program could lead to earlier interventions and possibly improved swallowing outcomes. LEVEL OF EVIDENCE: 3 Laryngoscope, 134:1939-1944, 2024.

Reducing Pediatric Posttonsillectomy Opioid Prescribing: A Quality Improvement Initiative.

OBJECTIVE: Postoperative pain is the most common morbidity associated with tonsillectomy. Opioids are frequently used in multimodal posttonsillectomy analgesia regimens; however, concerns regarding respiratory depression, drug-drug interactions, and medication misuse necessitate responsible opioid stewardship among prescribing surgeons. It is unclear if intentionally reducing opioid prescription doses negatively affects the patient experience. METHODS: A quality improvement team reviewed all posttonsillectomy opioid prescriptions at a pediatric ambulatory surgery center between January and June 2021 (preintervention, 163 patients). Following this review, we performed an opioid education session for surgeons and studied opioid prescribing habits between July and December 2021 (Plan-Do-Study-Act [PDSA] 1, 152 patients). We then implemented a standardized prescription protocol of 7 doses of oxycodone per patient and again reviewed prescriptions between January and June 2022 (PDSA 2, 178 patients). The following measures were evaluated: initial number of opioid doses prescribed, need for refills, 7-day emergency department (ED) visits, and readmissions. RESULTS: Each intervention reduced the average number of initial oxycodone doses per patient (12.2 vs 9.2 vs 6.9 doses, P < .001). There were no changes in the rate of refill requests, 7-day ED visits, and readmissions, by descriptive or Statistical Process Control analyses. DISCUSSION: In 2 PDSA cycles, we achieved a 43% reduction in the number of doses of oxycodone prescribed following tonsillectomy. We did not observe any increased rates in balancing measures, which are surrogates for unintentional effects of PDSA changes, including refills, ED presentations, and readmission rates. IMPLICATIONS FOR PRACTICE: Directed provider education and standardized posttonsillectomy prescription protocols can safely decrease postoperative opioid prescribing. Further PDSA cycles are required to consider even fewer opioid prescription doses.

Surgery for Velopharyngeal Insufficiency Following Cleft Palate Repair: An Audit of Contemporary Practice and Proposed Schema of Techniques and Variations.

OBJECTIVE: Surgical treatment of velopharyngeal insufficiency (VPI) includes a wide array of procedures. The purpose of this study was to develop a classification for VPI procedures and to describe variations in how they are performed.Design/participants/setting/outcomes: We completed an in-depth review of the literature to develop a preliminary schema that encompassed existing VPI procedures. Forty-one cleft surgeons from twelve hospitals across the USA and Canada reviewed the schema and either confirmed that it encompassed all VPI procedures they performed or requested additions. Two surgeons then observed the conduct of the procedures by surgeons at each hospital. Standardized reports were completed with each visit to further explore the literature, refine the schema, and delineate the common and unique aspects of each surgeon's technique. RESULTS: Procedures were divided into three groups: palate-based surgery; pharynx-based surgery; and augmentation. Palate-based operations included straight line mucosal incision with intravelar veloplasty, double-opposing Z-plasty, and palate lengthening with buccal myomucosal flaps. Many surgeons blended maneuvers from these three techniques, so a more descriptive schema was developed classifying the maneuvers employed on the oral mucosa, nasal mucosa, and muscle. Pharynx-based surgery included pharyngeal flap and sphincter pharyngoplasty, with variations in design for each. Augmentation procedures included palate and posterior wall augmentation. CONCLUSIONS: A comprehensive schema for VPI procedures was developed incorporating intentional adaptations in technique. There was substantial variation amongst surgeons in how each procedure was performed. The schema may enable more specific evaluations of surgical outcomes and exploration of the mechanisms through which these procedures improve speech.

Tracheal Mirror Image Artifact in Patients With Normal and Pathologic Tracheas.

Ultrasonography is gaining popularity as a diagnostic imaging modality for airway pathology. Tracheal ultrasound (US) has several nuances that are important for clinicians, including imaging artifacts, which can be mistaken for pathology. Tracheal mirror image artifacts (TMIAs) occur when the US beam is reflected back to the transducer in a nonliner direction or with multiple timesteps. It has previously been believed that the convexity of the tracheal cartilage prevents mirror image artifacts, but in reality, the air column acts as an acoustic mirror and causes TMIA. We describe a cohort of patients with both normal and pathologic tracheas, all of whom have TMIA on the tracheal US. These artifacts are important to recognize, especially as the airway US becomes more commonplace.

Sphincter Pharyngoplasty for Velopharyngeal Dysfunction: Impact of 22q11.2 Deletion Syndrome.

OBJECTIVE: Patients with 22q11.2 deletion syndrome (22q11DelS) often present with velopharyngeal dysfunction (VPD). VPD in patients with 22q11DelS is multifactorial beyond velopharyngeal insufficiency (VPI) alone, and differences in surgical outcomes are poorly understood. Our objective was to determine whether patients with 22q11DelS have an increased risk for persistent VPI after sphincter pharyngoplasty compared to patients without 22q11DelS. METHODS: We completed a retrospective cohort study of patients with 22q11DelS undergoing sphincter pharyngoplasty between 1995 and 2019 using a VPD clinic database. Patients with 22q11DelS were compared to a cohort of 2:1 frequency-matched (age, degree of velopharyngeal closure) patients without 22q11DelS. Variables included patient characteristics, surgical history, perceptual speech evaluation, and degree of closure on nasopharyngoscopic evaluations. Primary outcomes included postoperative VPI severity and hypernasality. Speech and nasopharyngoscopic characteristics were compared using Fisher's exact test. Postoperative VPI severity and hypernasality were compared between groups via relative risks (RR) from mixed effects Poisson regression models, with random effects of age and velopharyngeal closure. RESULTS: 134 patients (51 22q11DelS, 83 matched) were included, with mean age of 7.3 years (standard deviation 3.0) and 50% male. Cohorts had similar preoperative speech characteristics and nasopharyngoscopic findings. Patients with 22q11DelS had similar postoperative VP function as patients without 22q11DelS (RR 0.85, CI 0.46-1.57 for VPI severity, RR 0.83, CI 0.45-1.53 for hypernasality). Even after adjusting by preoperative variables, no differences were seen between both groups. CONCLUSION: Matched for age and pre-operative velopharyngeal closure, patients with and without 22q11DelS and VPI had similar benefits after sphincter pharyngoplasty. LEVEL OF EVIDENCE: Non-randomized controlled cohort study, 3 Laryngoscope, 133:2813-2820, 2023.

Pediatric Low-Grade Spindle Cell Neoplasm With A Novel AK5::ALK Fusion: A Case Report.

OBJECTIVES: Spindle cell neoplasms (SCN) share a single commonality of spindle-shaped cells on histopathology but are diverse in etiology. Expanding our collective knowledge of these neoplasms could further research in targeted therapies. We present a case of pediatric cutaneous SCN with a novel etiology, and the methods used to identify its origination. CASE PRESENTATION AND RESULTS: A 1.5-year-old child presented with a 7-month history of a rapidly enlarging, erythematous, non-painful scalp mass without ulceration or bleeding. The child underwent ultrasound and magnetic resonance imaging, revealing a 2.9 × 3 × 2 cm vascular mass without intracranial connections. The mass was successfully resected at surgery. Subsequent histopathologic and genetic testing indicated a SCN harboring a previously undescribed gene rearrangement between adenylate kinase 5 (AK5) and anaplastic lymphoma kinase (ALK). The patient received close clinical follow-up and at 6 months post-surgery had no recurrent disease. CONCLUSIONS: ALK rearrangements are common amongst many tumor types, but to our knowledge, AK5::ALK rearrangement has never been reported in SCN. Considering the rapid development of targeted clinical therapies, including those targeting ALK activity, this finding could be significant in the treatment of future patients with similar clinicopathologic and genetic presentation.

Delaying Invasive Treatment in Unilateral Head and Neck Lymphatic Malformation Improves Outcomes.

OBJECTIVES: Large (De Serres stage [IV-V]) head and neck lymphatic malformations (HNLMs) often have multiple, high-risk, invasive treatments (ITs) to address functional compromise. Logically reducing HNLM ITs should reduce treatment risk. We tested whether delaying HNLM ITs reduces total IT number. MATERIALS: Consecutive HNLM patients (n = 199) between 2010 and 2017, aged 0-18 years. METHODS: ITs (surgery or sclerotherapy) were offered for persistent or dysfunction causing HNLMs. Treatment effectiveness categorized by IT number: optimal (0-1), acceptable (2-5), or suboptimal (>5). Clinical data were summarized, and outcome associations tested (χ2 ). Relative risk (RR) with a Poisson working model tested whether HNLM observation or IT delay (>6 months post-diagnosis) predicts treatment success (i.e., ≤1 IT). RESULTS: Median age at HNLM diagnosis was 1.3 months (interquartile range [IQR] 0-45 m) with 107/199(54%) male. HNLM were stage I-III (174 [88%]), IV-V (25 [13%]). Initial treatment was observation (70 [35%]), invasive (129 [65%]). Treatment outcomes were optimal (137 [69%]), acceptable (36 [18%]), and suboptimal (26 [13%]). Suboptimal outcome associations: EXIT procedure, stage IV-V, oral location, and tracheotomy (p < 0.001). Stage I-III HNLMs were initially observed compared with stage I-III having ITs within 6 months of HNLM diagnosis, had a 82% lower relative treatment failure risk ([i.e., >1 IT], RR = 0.09, 95% CI 0.02-0.36, p < 0.001). Stage I-III HNLMs with non-delayed ITs had reduced treatment failure risk compared with IV-V (RR = 0.47, 95% CI 0.33-0.66, p < 0.001). CONCLUSION: Observation and delayed IT in stage I-III HNLM ("Grade 1") is safe and reduces IT (i.e., ≤1 IT). Stage IV-V HNLMs ("Grade 2") with early IT have a greater risk of multiple ITs. LEVEL OF EVIDENCE: 4 Laryngoscope, 133:956-962, 2023.

Virtually Assisted Personalized Tracheostomy Tube Design in Pediatric Complex Airway Anomalies.

We sought to assess the feasibility of virtually assisted personalized tracheostomy tube (vapTT) implementation for patients with congenital airway anomalies (CAAs) and persistent tracheostomy tube (TT)-related respiratory failure at a tertiary pediatric hospital. Three patients (0-18 years) with CAAs and recurrent TT-related respiratory complications were managed with vapTT over 5 years. Patients underwent airway computed tomography acquisition with 3-dimensional reconstruction and TT virtual modeling for shape customization. Models were transferred to Bivona for fabrication based on industry-standard materials and processes. Clinical information and tracheoscopies assessing position, obstruction, and granulation were reviewed. Patients demonstrated resolution of visualized TT-related obstruction, granulation, or ulceration and de-escalation of respiratory support. Clinical events requiring urgent tracheoscopy decreased in all 3 patients. Sufficient relief of critical airway obstruction allowed progression of medical care and/or discharge. VapTTs are feasible for patients with CAA. This new frontier in personalized devices may serve uniquely challenging patient populations for whom standard treatments have failed.

Primary targeted medical therapy for management of bilateral head and neck lymphatic malformations in infants.

OBJECTIVES: Patients born with bilateral head and neck lymphatic malformations (BHNLMs) often require multiple invasive treatments, including tracheostomy. We hypothesized that primary targeted medical therapy (pTMT) with diagnostic needle aspiration reduces the need for invasive therapy such as surgical resection and/or sclerotherapy. METHODS: Retrospective case review was performed of infants with BHNLMs (Grade 2 or De Serres stage IV and V) treated only at our institution from 2000 to 2021. Patients were divided into two cohorts: those managed with pTMT and those managed with observation, sclerotherapy, or surgical intervention (non-pTMT). Data regarding interventions, clinical outcomes, morbidity, and mortality were analyzed with descriptive statistics. RESULTS: Nine children with BHNLMs met inclusion criteria. Three (33%) were in the pTMT cohort and six (66%) were non-pTMT. Eight (89%) malformations were genotyped, and all demonstrated hotspot PIK3CA variants. All pTMT patients had sirolimus initiated in the first month of life and underwent needle aspiration of malformation cyst fluid for cell-free DNA samples. All pTMT patients tolerated medical therapy. For the non-pTMT cohort, primary treatment included none (deceased, n = 1, 17%), observation with needle aspiration (n = 1, 17%), surgical resection (n = 2, 33%), or combination surgery and sclerotherapy (n = 2, 33%). Intubation duration, intensive care and initial hospital length of stay were not different between cohorts. Four non-pTMT patients (67%) required tracheostomy, and two (33%) died prior to discharge. All pTMT patients survived and none required tracheostomy. Non-pTMT patients required a median of two invasive therapies prior to discharge (IQR 1-4) and a mean total of 13 over the course of their lifetime (IQR 1-16), compared to the pTMT group who did not require any lifetime invasive therapy, even after initial pTMT and discharge home. CONCLUSION: This study compares patients with BHNLMs (Grade 2) treated with pTMT versus those treated with observation or invasive therapy. Patients treated with pTMT required no surgical or invasive procedural treatment of their malformations, no tracheostomy placement, no unplanned readmissions after discharge, and had no mortalities. Needle aspiration was useful as a therapeutic adjunct for cell-free DNA diagnosis of PIK3CA variants, which guided TMT.

Beyond Laryngeal Clefts: Interarytenoid Injection Augmentation to Predict Success of Suture Augmentation in Children.

OBJECTIVE: To assess the efficacy of interarytenoid injection augmentation (IAIA) and the ability of IAIA to predict response to interarytenoid suture augmentation (IASA) based on diet advancement on video fluoroscopic swallow studies (VFSS). METHODS: Retrospective cohort analysis of patients with persistent pharyngeal dysphagia at a tertiary children's hospital with VFSS pre- and post-IAIA were included between March 2011 and June 2019. RESULTS: Median age of the 229 patients was 2.2 years (5.8 months-19 years). Interarytenoid mucosal height (IAMH) was found to be above the false vocal folds in 112 patients (53.4%) and at true vocal folds in 10 (4.9%) patients. On VFSS post-IAIA, 95 (41.5%) patients were successfully advanced in recommended diet consistency, 115 (50.2%) were stable, and 19 (8.3%) needed thicker consistency. Paired t-tests on pre- and post-operative consistency scores showed significant improvement, p-value of <0.0001, 95% confidence interval (CI; 0.50-0.85). Poisson regression found no covariates with significant association with improvement on IAIA. For IASA patients, 35/60 (58.3%) improved on post-op VFSS. Paired t-tests on pre- and post-operative consistency scores showed significant improvement, p-value of <0.0001, 95% CI (0.63-1.33). Positive predictive value for IAIA predicting response to IASA was 77% with positive likelihood ratio of 2.3. The response to IAIA versus no response to IAIA likelihood ratios were found to have a statistically significant difference (p < 0.05). CONCLUSIONS: Our study suggests IAIA yields objective improvement in swallow function on VFSS in nearly half of our patients and may be a reliable diagnostic tool to predict response to IASA in patients with persistent pharyngeal dysphagia with or without a laryngeal cleft. LEVEL OF EVIDENCE: 3 Laryngoscope, 133:1749-1756, 2023.

Analysis of Upper Airway Flow Dynamics in Robin Sequence Infants Using 4-D Computed Tomography and Computational Fluid Dynamics.

Robin Sequence (RS) is a potentially fatal craniofacial condition characterized by undersized jaw, posteriorly displaced tongue, and resultant upper airway obstruction (UAO). Accurate assessment of UAO severity is crucial for management and diagnosis of RS, yet current evaluation modalities have significant limitations and no quantitative measures of airway resistance exist. In this study, we combine 4-dimensional computed tomography and computational fluid dynamics (CFD) to assess, for the first time, UAO severity using fluid dynamic metrics in RS patients. Dramatic intrapopulation differences are found, with the ratio between most and least severe patients in breathing resistance, energy loss, and peak velocity equal to 40:1, 20:1, and 6:1, respectively. Analysis of local airflow dynamics characterized patients as presenting with primary obstructions either at the location of the tongue base, or at the larynx, with tongue base obstructions resulting in a more energetic stenotic jet and greater breathing resistance. Finally, CFD-derived flow metrics are found to correlate with the level of clinical respiratory support. Our results highlight the large intrapopulation variability, both in quantitative metrics of UAO severity (resistance, energy loss, velocity) and in the location and intensity of stenotic jets for RS patients. These results suggest that computed airflow metrics may significantly improve our understanding of UAO and its management in RS.

Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth.

PURPOSE: PIK3CA-related overgrowth spectrum (PROS) conditions of the head and neck are treatment challenges. Traditionally, these conditions require multiple invasive interventions, with incomplete malformation removal, disfigurement, and possible dysfunction. Use of the PI3K inhibitor alpelisib, previously shown to be effective in PROS, has not been reported in PIK3CA-associated head and neck lymphatic malformations (HNLMs) or facial infiltrating lipomatosis (FIL). We describe prospective treatment of 5 children with PIK3CA-associated HNLMs or head and neck FIL with alpelisib monotherapy. METHODS: A total of 5 children with PIK3CA-associated HNLMs (n = 4) or FIL (n = 1) received alpelisib monotherapy (aged 2-12 years). Treatment response was determined by parental report, clinical evaluation, diary/questionnaire, and standardized clinical photography, measuring facial volume through 3-dimensional photos and magnetic resonance imaging. RESULTS: All participants had reduction in the size of lesion, and all had improvement or resolution of malformation inflammation/pain/bleeding. Common invasive therapy was avoided (ie, tracheotomy). After 6 or more months of alpelisib therapy, facial volume was reduced (range 1%-20%) and magnetic resonance imaging anomaly volume (range 0%-23%) were reduced, and there was improvement in swallowing, upper airway patency, and speech clarity. CONCLUSION: Individuals with head and neck PROS treated with alpelisib had decreased malformation size and locoregional overgrowth, improved function and symptoms, and fewer invasive procedures.

Avoidance of surgery for head and neck infantile myofibromatosis using imatinib monotherapy.

Describe a novel use for a kinase inhibitor, imatinib, in young children with a known activated somatic mutation in PDGFR-beta. Two patients with infantile myofibromatosis treated with imatinib. Case description of evaluation, diagnosis and treatment decisions for infantile myfibromatosis of the head and neck. Description of medical therapy for infantile myofibromatosis in these patients. For function threatening myofibromas of a known genotype, in infants, targeted medical therapy is a treatment option.