Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111.

MPZL2-related hearing loss is a rare form of autosomal recessive hearing loss characterized by progressive, mild sloping to severe sensorineural hearing loss. Thirty-five previously reported patients had biallelic truncating variants in MPZL2, with the exception of one patient with a missense variant of uncertain significance and a truncating variant. Here, we describe the clinical characteristics and genotypes of five patients from four families with confirmed MPZL2-related hearing loss. A rare missense likely pathogenic variant [NM_005797.4(MPZL2):c.280C>T,p.(Arg94Trp)] located in exon 3 was confirmed to be in trans with a recurrent pathogenic truncating variant that segregated with hearing loss in three of the patients from two unrelated families. This is the first recurrent likely pathogenic missense variant identified in MPZL2. Apparently milder or later-onset hearing loss associated with rare missense variants in MPZL2 indicates that some missense variants in this gene may cause a milder phenotype than that resulting from homozygous or compound heterozygous truncating variants. This study, along with the identification of truncating loss of function and missense MPZL2 variants in several diverse populations, suggests that MPZL2-related hearing loss may be more common than previously appreciated and demonstrates the need for MPZL2 inclusion in hearing loss testing panels.

Clinical Characteristics of Primary Snoring vs Mild Obstructive Sleep Apnea in Children: Analysis of the Pediatric Adenotonsillectomy for Snoring (PATS) Randomized Clinical Trial.

Importance: It is unknown whether children with primary snoring and children with mild obstructive sleep apnea (OSA) represent populations with substantially different clinical characteristics. Nonetheless, an obstructive apnea-hypopnea index (AHI) of 1 or greater is often used to define OSA and plan for adenotonsillectomy (AT). Objective: To assess whether a combination of clinical characteristics differentiates children with primary snoring from children with mild OSA. Design, Setting, and Participants: Baseline data from the Pediatric Adenotonsillectomy Trial for Snoring (PATS) study, a multicenter, single-blind, randomized clinical trial conducted at 6 academic sleep centers from June 2016 to January 2021, were analyzed. Children aged 3.0 to 12.9 years with polysomnography-diagnosed (AHI <3) mild obstructive sleep-disordered breathing who were considered candidates for AT were included. Data analysis was performed from July 2022 to October 2023. Main Outcomes and Measures: Logistic regression models were fitted to identify which demographic, clinical, and caregiver reports distinguished children with primary snoring (AHI <1; 311 patients [67.8%]) from children with mild OSA (AHI 1-3; 148 patients [32.2%]). Results: A total of 459 children were included. The median (IQR) age was 6.0 (4.0-7.5) years, 230 (50.1%) were female, and 88 (19.2%) had obesity. A total of 121 (26.4%) were Black, 75 (16.4%) were Hispanic, 236 (51.5%) were White, and 26 (5.7%) were other race and ethnicity. Black race (odds ratio [OR], 2.08; 95% CI, 1.32-3.30), obesity (OR, 1.80; 95% CI, 1.12-2.91), and high urinary cotinine levels (>5 µg/L) (OR, 1.88; 95% CI, 1.15-3.06) were associated with greater odds of mild OSA rather than primary snoring. Other demographic characteristics, clinical examination findings, and questionnaire reports did not distinguish between primary snoring and mild OSA. A weighted combination of the statistically significant clinical predictors had limited ability to differentiate children with mild OSA from children with primary snoring. Conclusions and Relevance: In this analysis of baseline data from the PATS randomized clinical trial, primary snoring and mild OSA were difficult to distinguish without polysomnography. Mild OSA vs snoring alone did not identify a clinical group of children who may stand to benefit from AT for obstructive sleep-disordered breathing. Trial Registration: ClinicalTrials.gov Identifier: NCT02562040.

Adenotonsillectomy for Snoring and Mild Sleep Apnea in Children: A Randomized Clinical Trial.

Importance: The utility of adenotonsillectomy in children who have habitual snoring without frequent obstructive breathing events (mild sleep-disordered breathing [SDB]) is unknown. Objectives: To evaluate early adenotonsillectomy compared with watchful waiting and supportive care (watchful waiting) on neurodevelopmental, behavioral, health, and polysomnographic outcomes in children with mild SDB. Design, Setting, and Participants: Randomized clinical trial enrolling 459 children aged 3 to 12.9 years with snoring and an obstructive apnea-hypopnea index (AHI) less than 3 enrolled at 7 US academic sleep centers from June 29, 2016, to February 1, 2021, and followed up for 12 months. Intervention: Participants were randomized 1:1 to either early adenotonsillectomy (n = 231) or watchful waiting (n = 228). Main Outcomes and Measures: The 2 primary outcomes were changes from baseline to 12 months for caregiver-reported Behavior Rating Inventory of Executive Function (BRIEF) Global Executive Composite (GEC) T score, a measure of executive function; and a computerized test of attention, the Go/No-go (GNG) test d-prime signal detection score, reflecting the probability of response to target vs nontarget stimuli. Twenty-two secondary outcomes included 12-month changes in neurodevelopmental, behavioral, quality of life, sleep, and health outcomes. Results: Of the 458 participants in the analyzed sample (231 adenotonsillectomy and 237 watchful waiting; mean age, 6.1 years; 230 female [50%]; 123 Black/African American [26.9%]; 75 Hispanic [16.3%]; median AHI, 0.5 [IQR, 0.2-1.1]), 394 children (86%) completed 12-month follow-up visits. There were no statistically significant differences in change from baseline between the 2 groups in executive function (BRIEF GEC T-scores: -3.1 for adenotonsillectomy vs -1.9 for watchful waiting; difference, -0.96 [95% CI, -2.66 to 0.74]) or attention (GNG d-prime scores: 0.2 for adenotonsillectomy vs 0.1 for watchful waiting; difference, 0.05 [95% CI, -0.18 to 0.27]) at 12 months. Behavioral problems, sleepiness, symptoms, and quality of life each improved more with adenotonsillectomy than with watchful waiting. Adenotonsillectomy was associated with a greater 12-month decline in systolic and diastolic blood pressure percentile levels (difference in changes, -9.02 [97% CI, -15.49 to -2.54] and -6.52 [97% CI, -11.59 to -1.45], respectively) and less progression of the AHI to greater than 3 events/h (1.3% of children in the adenotonsillectomy group compared with 13.2% in the watchful waiting group; difference, -11.2% [97% CI, -17.5% to -4.9%]). Six children (2.7%) experienced a serious adverse event associated with adenotonsillectomy. Conclusions: In children with mild SDB, adenotonsillectomy, compared with watchful waiting, did not significantly improve executive function or attention at 12 months. However, children with adenotonsillectomy had improved secondary outcomes, including behavior, symptoms, and quality of life and decreased blood pressure, at 12-month follow-up. Trial Registration: ClinicalTrials.gov Identifier: NCT02562040.

Vinblastine/Methotrexate for Debilitating and Progressive Plexiform Neurofibroma in Children and Young Adults with Neurofibromatosis Type 1: A Phase 2 Study.

Limited therapies exist for neurofibromatosis type 1 (NF1)-associated plexiform neurofibroma (PN). For this reason, the activity of vinblastine (VBL) and methotrexate (MTX) was evaluated in children and young adults with NF1 and PN. Patients ≤ 25 years of age with progressive and/or inoperable NF1-PN received VBL 6 mg/m2 and MTX 30 mg/m2 weekly for 26 weeks, followed by every 2 weeks for 26 weeks. Objective response rate was the primary endpoint. Of 25 participants enrolled, 23 were evaluable. The median age of participants was 6.6 years (range 0.3-20.7). The most frequent toxicities were neutropenia and elevation of transaminases. On two-dimensional (2D) imaging, 20 participants (87%) had stable tumor, with a median time to progression of 41.5 months (95% confidence interval 16.9, 64.9). Two of eight participants (25%) with airway involvement demonstrated functional improvements including decreased positive pressure requirements and apnea-hypopnea index. A post hoc three-dimensional (3D) analysis of PN volumes was completed on 15 participants with amenable imaging; 7 participants (46%) had progressive disease on or by the end of therapy. VBL/MTX was well-tolerated but did not result in objective volumetric response. Furthermore, 3D volumetric analysis highlighted the lack of sensitivity of 2D imaging for PN response evaluation.

Associations of actigraphy measures of sleep duration and continuity with executive function, vigilance, and fine motor control in children with snoring and mild sleep-disordered breathing.

STUDY OBJECTIVES: Children with snoring and mild sleep-disordered breathing may be at increased risk for neurocognitive deficits despite few obstructive events. We hypothesized that actigraphy-based sleep duration and continuity associate with neurobehavioral functioning and explored whether these associations vary by demographic and socioeconomic factors. METHODS: 298 children enrolled in the Pediatric Adenotonsillectomy Trial, ages 3 to 12.9 years, 47.3% from racial or ethnic minority groups, with habitual snoring and an apnea-hypopnea index < 3 were studied with actigraphy (mean 7.5 ± 1.4 days) and completed a computerized vigilance task (Go-No-Go) and a test of fine motor control (9-Hole Pegboard). Caregivers completed the Behavior Rating Inventory of Executive Function. Regression analyses evaluated associations between sleep exposures (24-hour and nocturnal sleep duration, sleep fragmentation index, sleep efficiency) with the Behavior Rating Inventory of Executive Function Global Executive Composite index, pegboard completion time (fine motor control), and vigilance (d prime on the Go-No-Go), adjusting for demographic factors and study design measures. RESULTS: Longer sleep duration, higher sleep efficiency, and lower sleep fragmentation were associated with better executive function; each additional hour of sleep over 24 hours associated with more than a 3-point improvement in executive function (P = .002). Longer nocturnal sleep (P = .02) and less sleep fragmentation (P = .001) were associated with better fine motor control. Stronger associations were observed for boys and children less than 6 years old. CONCLUSIONS: Sleep quantity and continuity are associated with neurocognitive functioning in children with mild sleep-disordered breathing, supporting efforts to target these sleep health parameters as part of interventions for reducing neurobehavioral morbidity. CLINICAL TRIAL REGISTRATION: Registry: ClinicalTrials.gov; Name: Pediatric Adenotonsillectomy for Snoring (PATS); URL: https://clinicaltrials.gov/ct2/show/NCT02562040; Identifier: NCT02562040. CITATION: Robinson KA, Wei Z, Radcliffe J, et al. Associations of actigraphy measures of sleep duration and continuity with executive function, vigilance, and fine motor control in children with snoring and mild sleep-disordered breathing. J Clin Sleep Med. 2023;19(9):1595-1603.

Comparison of Caregiver- and Child-Reported Quality of Life in Children With Sleep-Disordered Breathing.

OBJECTIVE: Caregivers frequently report poor quality of life (QOL) in children with sleep-disordered breathing (SDB). Our objective is to assess the correlation between caregiver- and child-reported QOL in children with mild SDB and identify factors associated with differences between caregiver and child report. STUDY DESIGN: Analysis of baseline data from a multi-institutional randomized trial SETTING: Pediatric Adenotonsillectomy Trial for Snoring, where children with mild SDB (obstructive apnea-hypopnea index <3) were randomized to observation or adenotonsillectomy. METHODS: The Pediatric Quality of Life Inventory (PedsQL) assessed baseline global QOL in participating children 5 to 12 years old and their caregivers. Caregiver and child scores were compared. Multivariable regression assessed whether clinical factors were associated with differences between caregiver and child report. RESULTS: PedsQL scores were available for 309 families (mean child age, 7.0 years). The mean caregiver-reported PedsQL score was higher at 75.2 (indicating better QOL) than the mean child-reported score of 67.9 (P < .001). The agreement between caregiver and child total PedsQL scores was poor, with intraclass correlation coefficients of 0.03 (95% CI, -0.09 to 0.15) for children 5 to 7 years old and 0.21 (95% CI, 0.03-0.38) for children 8 to 12 years old. Higher child age and health literacy were associated with closer agreement between caregiver and child report. CONCLUSION: Caregiver- and child-reported global QOL in children with SDB was weakly correlated, more so for young children. In pediatric SDB, child-perceived QOL may be poorer than that reported by caregivers. Further research is needed to assess whether similar trends exist for disease-specific QOL metrics.

A Trial of Intranasal Corticosteroids to Treat Childhood OSA Syndrome.

BACKGROUND: Intranasal corticosteroids (INCS) are frequently used to treat OSA syndrome (OSAS) in children. However, their efficacy has not been rigorously tested. RESEARCH QUESTION: Do INCS result in improved OSAS symptoms, polysomnography findings, behavior, and quality of life compared with placebo? STUDY DESIGN AND METHODS: In this randomized, double-blind, placebo-controlled trial, children with OSAS aged 5 to 12 years (N = 134) were randomized 2:1 to receive 3 months of INCS or placebo. Children in the INCS arm were then re-randomized to receive 9 months of INCS or placebo. Polysomnography, symptoms, and neurobehavioral findings were measured at baseline, 3 months, and 12 months. The primary outcome was change in obstructive apnea hypopnea index (OAHI) at 3 months, available for 122 children. The secondary outcome was OAHI change at 12 months, available for 70 children. RESULTS: Median (interquartile range) age and OAHI at baseline for the entire group were 7.9 (6.3 to 9.9) years and 5.8 (3.6 to 9.7) events per hour. OAHI changes at 3 months (-1.72 [-3.91 to 1.92] events per hour) and 12 months (-1.2 [-4.22 to 1.71] events per hour) were not different between the two groups (P = not significant). OSAS symptoms and neurobehavioral results did not differ between the INCS and placebo groups at 3 and 12 months. The 38 children who received INCS for 12 months reported a significant OAHI decrease from 7.2 (3.62 to 9.88) events per hour to 3.7 (1.56 to 6.4) events per hour (P = .039). INTERPRETATION: In children with OSAS, treatment with INCS did not result in significant polysomnography, neurobehavioral, or symptom changes at 3 and 12 months of treatment. Twelve months of INCS treatment resulted in a statistically significant but not clinically relevant OAHI reduction. CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov; No.: NCT02180672; URL: www. CLINICALTRIALS: gov.

Neurobehavioral morbidity of pediatric mild sleep-disordered breathing and obstructive sleep apnea.

STUDY OBJECTIVES: Obstructive sleep apnea is associated with neurobehavioral dysfunction, but the relationship between disease severity as measured by the apnea-hypopnea index and neurobehavioral morbidity is unclear. The objective of our study is to compare the neurobehavioral morbidity of mild sleep-disordered breathing versus obstructive sleep apnea. METHODS: Children 3-12 years old recruited for mild sleep-disordered breathing (snoring with obstructive apnea-hypopnea index < 3) into the Pediatric Adenotonsillectomy Trial for Snoring were compared to children 5-9 years old recruited for obstructive sleep apnea (obstructive apnea-hypopnea 2-30) into the Childhood Adenotonsillectomy Trial. Baseline demographic, polysomnographic, and neurobehavioral outcomes were compared using univariable and multivariable analysis. RESULTS: The sample included 453 participants with obstructive sleep apnea (median obstructive apnea-hypopnea index 5.7) and 459 participants with mild sleep-disordered breathing (median obstructive apnea-hypopnea index 0.5). By polysomnography, participants with obstructive sleep apnea had poorer sleep efficiency and more arousals. Children with mild sleep-disordered breathing had more abnormal executive function scores (adjusted odds ratio 1.96, 95% CI 1.30-2.94) compared to children with obstructive sleep apnea. There were also elevated Conners scores for inattention (adjusted odds ratio 3.16, CI 1.98-5.02) and hyperactivity (adjusted odds ratio 2.82, CI 1.83-4.34) in children recruited for mild sleep-disordered breathing. CONCLUSIONS: Abnormal executive function, inattention, and hyperactivity were more common in symptomatic children recruited into a trial for mild sleep-disordered breathing compared to children recruited into a trial for obstructive sleep apnea. Young, snoring children with only minimally elevated apnea-hypopnea levels may still be at risk for deficits in executive function and attention. TRIAL REGISTRATION: Pediatric Adenotonsillectomy for Snoring (PATS), NCT02562040; Childhood Adenotonsillectomy Trial (CHAT), NCT00560859.

Reliability and Accuracy of Remote Fiberoptic Nasopharyngolaryngoscopy in the Pediatric Population.

INTRODUCTION: Telemedicine is an increasingly prevalent component of medical practice. In otolaryngology, there is the potential for telemedicine services to be performed in conjunction with device use, such as with a nasolaryngoscope. This study evaluates the reliability of remote examinations of the upper airway through an iPhone recording using a coupling device attached to a nasopharyngolaryngoscope (NPL). METHODS: A prospective, blinded study was performed for pediatric patients requiring an NPL during an office visit. The NPL was performed using a coupling device attached to a smartphone to record the examination. A second, remote otolaryngologist then evaluated the recorded examination. Both otolaryngologists evaluated findings of anatomic sites including nasopharynx, oropharynx, base of tongue, larynx including subsites of epiglottis, arytenoids, aryepiglottic folds, false vocal cords, true vocal cords, patency of airway, and diagnostic impression, all of which were documented through a survey. Results of the survey were evaluated through inter-rater agreement using the κ statistic. RESULTS: Forty-five patients underwent an NPL, all of which were included in the study. The average age was 4.9 years. The most common complaint requiring NPL was noisy breathing (n = 16). The inter-rater agreement for overall diagnosis was 0.74 with 80% percent agreement, rated as "good." Other anatomic subsites with "good" or better inter-rater agreement were nasopharynx (0.75), oropharynx (0.75), and true vocal cords (0.71), with strong percentage agreement of 89%, 91%, and 87%, respectively. Both users of the adaptor found the recording setup to run smoothly. CONCLUSION: A telemedicine device for NPL use demonstrates strong diagnostic accuracy across providers and good overall evaluation. It holds potential for use in remote settings.

Recorded Flexible Nasolaryngoscopy for Neonatal Vocal Cord Assessment in a Prospective Cohort.

OBJECTIVE: Assessing vocal cord mobility by flexible nasolaryngoscopy (FNL) can be difficult in neonates. To date, prospective studies evaluating the incidence and diagnostic accuracy of vocal cord paralysis (VCP) after surgical patent ductus arteriosus (PDA) ligation are limited. It is unknown whether video FNL improves diagnosis in this population. This study compared video recordings with bedside evaluation for diagnosis of VCP and determined inter-rater reliability of the diagnosis of VCP in preterm infants after PDA ligation. METHODS: Prospective cohort of preterm neonates undergoing bedside FNL within two weeks of extubation following PDA ligation. In a subset, FNL was recorded. Two pediatric otolaryngologists, blinded to the initial diagnosis, reviewed the FNL video recordings. RESULTS: Eighty infants were enrolled and 37 with a recorded FNL were included in the cohort. Average gestational age at birth was 25.2 weeks (SD: 1.2) and postmenstrual age at FNL was 37.0 weeks (SD: 4.5), which was 9.5 days (SD: 14.7) after extubation following PDA repair. There were 6 diagnosed with left VCP (16.2%; 95% CI: 4.3-28.1%) at bedside, and 9 diagnosed by video review (24.3%; 95% CI: 10.5-38.1%) (P = .56). Videos confirmed all 6 VCP diagnosed initially, but also identified 3 additional cases. Though imperfect, reviewing FNL by video showed substantial reliability (kappa = .75), with 91.9% agreement. CONCLUSION: Video recorded FNL most often confirms a bedside diagnosis of VCP, but may also identify discrepancies. Physicians should consider the limitations of diagnosis especially when infants persist with symptoms such as weak voice or signs of postoperative aspiration. LEVEL OF EVIDENCE: 2b.

Algorithm-Based Pediatric Otolaryngology Management During the COVID-19 Global Pandemic: A Children's Hospital of Philadelphia Clinical Consensus.

OBJECTIVE: The coronavirus disease 2019 (COVID-19) pandemic requires clinicians to explore alternatives to routine patient management. Otolaryngologists caring for children commonly depend on physical examination, laboratory data, and ambulatory surgical procedures. Limiting patient care, mindful allocation of resources, and concern for safety have challenged all aspects of our health care system. This evidence-based clinical consensus is designed to guide practitioners of pediatric otolaryngology for common scenarios during this time. DATA SOURCES: Peer-reviewed literature, published reports, institutional guidelines, and expert consensus. REVIEW METHODS: A clinical consensus on 6 common scenarios in pediatric otolaryngology developed with evidence-based strategies. CONCLUSIONS: Providers should suspend all in-person nonessential office visits and elective surgical procedures. An emphasis on medical management and caregiver education will provide reasonable approaches to many of the common outpatient concerns. Surgery for chronic otitis media, obstructive sleep apnea, and acute rhinosinusitis should occur only in response to severe complications or failure of medical regimens. The approach to the pediatric neck mass focuses on timely management for oncologic etiologies and cautious surgical intervention for abscess drainage or tissue sampling. Finally, epistaxis and otorrhea must be triaged and addressed without the usual ambulatory procedures. IMPLICATIONS FOR PRACTICE: Adaptation of practice patterns during this unprecedented moment for our health care system requires thoughtful planning. The strategies described allow for safe handling of common pediatric otolaryngology diagnoses. Ultimately, otolaryngologists must be stewards of our global health community while advocating for the care of individual pediatric patients.

Research Needs Assessment for Children With Obstructive Sleep Apnea Undergoing Diagnostic or Surgical Procedures.

Recent concerns have been raised about the quality and safety of adenotonsillectomy, a common surgery performed to treat obstructive sleep apnea (OSA) in children. OSA is a risk factor for opioid-related perioperative respiratory complications including those associated with anoxic brain injury or death. Our objective was to identify controversial issues related to the care of children with OSA. A standardized Delphi consensus technique involving an interdisciplinary group of 24 pediatric OSA experts identified 3 key issues: "postoperative disposition, preoperative screening, and pain management." These topics are prime candidates for future systematic reviews and will guide Society of Anesthesia and Sleep Medicine-related research endeavors.

22q11.2 Deletion syndrome and obstructive sleep apnea.

UNLABELLED: Otolaryngologic problems are common in the 22q11.2 deletion syndrome (DS) population. Structural anomalies and retrognathia may predispose these patients to obstructive sleep apnea (OSA). The current association of OSA in this population is not defined. OBJECTIVE: (1) Define the frequency of OSA in 22q11.2 DS patients referred for polysomnography (PSG). (2) Determine if OSA is present before and/or after surgery to correct velopharyngeal insufficiency (VPI). (3) Determine effect of prior adenotonsillectomy on OSA following VPI surgery. METHODS: Retrospective review of children treated from 2006 to 2013 in a tertiary care setting identified by ICD-9 758.32 (velocardiofacial syndrome) and 279.11 (DiGeorge syndrome). Surgical history and PSG data were abstracted from the identified records. RESULTS: We identified 323 patients with 22q11.2 DS; 57 (18%) were screened at any point in care using PSG and 15 patients had PSG at multiple time points in care. In most cases, indication for PSG was sleep disordered breathing or pre-operative planning. Overall, 33 patients met criteria for OSA on PSG, accounting for 10.2% of our study population; however, the percentage of patients with OSA was significantly higher within the group of 57 patients (58%) who were screened with PSG. Twenty-one of the screened patients (54%) had PSG prior to any pharyngeal surgery and had mild to severe OSA (obstructive apnea/hypopnea index (AHI): median 5.1/h, range 1.9-25.6). Eighteen patients had PSG after adenotonsillectomy; 8 of these patients (44%) had mild to moderate OSA (median AHI 2.95/h, range 1.9-5.4). Seventeen patients had PSG after VPI surgery (palatopharyngeal flap (PPF) n=16, sphincteroplasty n=1). Nine of these patients (53%) had mild to severe OSA (median AHI 3/h, range 1.9-15). Patients who underwent adenotonsillectomy prior to VPI surgery had similar prevalence of OSA (50%, n=12) than those who did not (OSA: 60%, n=5, p=0.70). Most children had mild OSA. CONCLUSION: Prevalence of OSA in this population of 22q11.2 DS patients is higher than expected in the general population. OSA risk is highest after VPI surgery, and may be decreased by adenotonsillectomy. Providers should have awareness of increased prevalence of OSA in patients with 22q11.2 DS. Close monitoring for OSA is warranted given the likelihood of subsequent surgical intervention that can worsen OSA.

Management of isolated sphenoid sinus disease in children: a surgical perspective.

OBJECTIVE: To determine the spectrum of diseases and optimal timing of surgical drainage for the opacified sphenoid sinus in children. METHODS: Ten year retrospective chart review of children with isolated sphenoid sinus disease. RESULTS: Fourteen patients (mean age 11 ± 2.8 years, range 6.5-15.1 years) were diagnosed with isolated sphenoid sinus disease. Five patients had acute, severe bacterial sphenoiditis, four had sphenoid mucoceles, three had suspected tumors involving the sphenoid bone, clivus or sella, and two were identified incidentally when imaging studies were obtained for unrelated reasons. Headache was the most common symptom. Cranial nerve or other intracranial complications were present in all of those referred because of infection, but in none of the other patients. Computed tomography (CT) revealed the presence of disease in all cases. Compared with CT, magnetic tomography (MRI) was more helpful in identifying the extent of disease spread in two patients with acute bacterial sphenoiditis and in three patients with suspected tumors. All improved with surgical drainage or biopsy of the suspected tumor. In two cases, children were treated conservatively with antibiotics and the primary symptoms resolved. CONCLUSIONS: Isolated sphenoid sinus disease is rare in children. Those with clinically significant disease presented with progressive, severe headaches and minimal sinus symptoms. MRI studies were important to identify the source of headache and evolving complications in several of these patients.

Diagnosis and treatment of pediatric vallecular cysts and pseudocysts.

OBJECTIVE: To review the experience at a children's hospital diagnosing and treating vallecular cysts. SECONDARY OBJECTIVES: To determine if cyst type, operative mode, or ages are risk factor(s) for recurrence. METHODS: Chart review of eleven children with vallecular cysts and pseudocysts from 1997 to 2009. RESULTS: The most common presenting symptoms were stridor (8/12, 67%), respiratory distress (7/12, 58%), and feeding difficulties (4/12, 33%). Symptoms of gastroesophageal reflux disease were present in 67% of patients and 17% carried a concurrent diagnosis of laryngomalacia. Eleven of twelve patients required operative intervention, the majority of which were transoral endoscopic procedures. Three patients (3/11, 27%) had recurrences. Two of these patients required only a second procedure, but one patient required multiple procedures. Fifty percent (2/4) of the patients 2 years or older experienced a recurrence, whereas only 14% (1/7) of the patients less than 2 years old had a recurrence, a difference which was not statistically significant (p=0.49). Pseudocysts tended to recur more frequently than vallecular cysts. (p=0.13). Surgical approach (marsupialization versus total excision) did not affect recurrence rate. One patient with a small, asymptomatic cyst was observed and continues to be symptom-free. There were no surgical complications. CONCLUSIONS: Vallecular cysts and pseudocysts are rare congenital lesions of the upper aerodigestive tract. Vallecular pseudocysts tended to recur more than vallecular cysts in our series. Surgery is the treatment of choice for symptomatic patients; smaller cysts may be followed closely.

Suppurative complications of acute otitis media: changes in frequency over time.

OBJECTIVE: To review the experience at the Children's Hospital of Philadelphia in the management of suppurative complications of acute otitis media from 2000 to 2007, with an emphasis on changes in frequency over time. DESIGN: Retrospective cohort study. SETTING: Academic, tertiary care children's hospital. PATIENTS: The study population comprised 87 children (age <18 years) with acute mastoiditis treated at our institution over the period of January 1, 2000, to December 31, 2007. Acute mastoiditis was defined by evidence of inflammation in the middle ear space and signs of mastoid inflammation (postauricular swelling, redness, or tenderness) or radiographic evidence of destruction of mastoid air cells, sigmoid sinus thrombosis, or abscess formation. Patients with underlying cholesteatoma were excluded. MAIN OUTCOME MEASURE: Frequency of cases of acute mastoiditis per year. RESULTS: The frequency of cases of acute mastoiditis at our institution was positively correlated with calendar time, both for all cases of acute mastoiditis (Spearman rank correlation, r = 0.73; P = .04) and for cases of mastoid subperiosteal abscess (r = 0.96; P < .001). CONCLUSIONS: We observed an increase in the frequency of cases of acute mastoiditis with subperiosteal abscess seen at our institution over the study period, controlling for case volume. These findings suggest an increase in incidence, although further population-based studies are required to definitively evaluate this possibility.

Lateral sinus thrombosis as a complication of otitis media: 10-year experience at the children's hospital of Philadelphia.

OBJECTIVES: Lateral sinus thrombosis is a rare intracranial complication of otitis media that is traditionally described in countries with poor access to medical care. Our goal was to describe the clinical presentation, management, and outcome of patients diagnosed with lateral sinus thrombosis in a US tertiary care center and to highlight the clinically relevant differences in presentation between these patients and those described in previous reports. PATIENTS AND METHODS: The medical charts of 13 patients diagnosed with otogenic lateral sinus thrombosis were reviewed. These patients were identified from a manual search of 156 subjects with International Classification of Diseases, Ninth Revision codes corresponding with a diagnosis of mastoiditis or thromboembolism over a 10-year period (1997-2007) at the Children's Hospital of Philadelphia. RESULTS: In contrast to previous reports in the literature, the majority of patients in this series exhibited cranial neuropathies and signs of raised intracranial pressure. Nearly all of the patients had a history of acute otitis media treated with antibiotics in the weeks preceding admission. However, many patients denied high fevers or active otomastoid symptoms, which are classically associated with lateral sinus thrombosis. The diagnosis was made in all of the children by using computed tomography and MRI/venography. Treatment strategies included myringotomy tube placement, simple mastoidectomy, intravenous antibiotics, and anticoagulation. Posthospitalization follow-up data revealed no significant long-term complications. CONCLUSION: Despite appropriate antibiotic therapy, lateral sinus thrombosis and other intracranial complications of otitis media are still a threat to children in the modern era. Neurologic, rather than otologic, symptoms may dominate the presentation of otogenic lateral sinus thrombosis. Thus, a high index of suspicion may be critical for ensuring timely diagnosis of this rare condition.

Management of hypopharyngeal and esophageal perforations in children: three case reports and a review of the literature.

We report 2 cases of pediatric hypopharyngeal perforation that occurred during endoscopy and 1 case of esophageal perforation that developed during nasogastric tube insertion at a tertiary care academic medical center. These cases were identified during a retrospective chart review. All 3 patients were treated with intravenous antibiotics and nasogastric tube feedings, and none experienced further sequelae. Perforations of the hypopharynx and esophagus in children during endoscopy or insertion of endotracheal and nasogastric tubes are not uncommon. Many affected children can be managed conservatively without surgical drainage, depending on the cause and specific location of the perforation and the timing of the diagnosis. We discuss the clinical criteria for various management options, and we offer an algorithm that outlines important clinical considerations in the decision-making process. Our aim in presenting these cases is to increase awa reness of the management options for children with hypopharyngeal and esophageal perforations and to demonstrate the effectiveness of nonsurgical management in selected cases.

Hamartomatous tongue lesions in children.

The incidence and spectrum of tongue lesions in children, in particular tongue hamartomas, is relatively unknown. We report a retrospective review of all tongue lesions seen at a major tertiary care children's hospital over an 18-year period with an emphasis on describing tongue hamartomas. A total of 135 tongue lesions were identified. Vascular/lymphatic lesions (36/135) were the most common followed by mucus extravasation phenomenon (22/135). Interestingly, hamartomatous lesions (18/135) were the third most common lesion category identified. Lingual hamartomas were predominantly submucosal in location and were classified histologically by tissue composition as follows: neurovascular (2/18), smooth muscle predominant (5/18), fat predominant (1/18), and smooth muscle and fat containing (10/18). All 5 smooth muscle predominant hamartomas also contained vasculature, and 1 case additionally contained salivary gland tissue. The single fat predominant hamartoma additionally contained vessels and salivary gland. The final 10 hamartomas contained varying amounts of both smooth muscle and fat, and also admixed combinations of vessels, nerves, and salivary glands. Two of these 10 cases additionally contained foci of choristomatous elements, including cutaneous adnexal structures and cartilage. Most patients with hamartomatous lesions were young, 2 years or less. Eight cases were congenital in origin. Females outnumbered males by 2:1. The majority of lesions (16/18) were dorsal in location, and 4 patients had a syndromic association, all oral-facial-digital syndrome.