Alexandria L. Irace

Sirolimus as treatment for 19 patients with refractory cervicofacial lymphatic malformation

Lymphatic malformations (LMs) are challenging to manage, particularly those involving the cervicofacial region and airway. Traditional therapy is sclerotherapy and/or resection. We aim to establish the emerging therapeutic role of sirolimus.

Teratoma of the neonatal head and neck: A 41-year experience

OBJECTIVE To review our institutions experience with the presentation, evaluation, and management of teratoma of the head and neck in the neonatal population. DESIGN Retrospective case series (November 1970 through September 2011). SETTING Tertiary care childrens hospital. PATIENTS 14 patients (12 boys and 2 girls). INTERVENTION Detailed review of presentation, diagnostic approaches, surgical management, and outcomes. MAIN OUTCOME MEASURES Anatomic sites, use of pre and post-natal imaging, use of EXIT (ex utero intrapartum treatment) procedure, presenting symptoms, surgical approaches, additional therapeutic modalities, and outcomes are reviewed. RESULTS Seven patients were diagnosed prenatally, while the remaining 7 patients were diagnosed at birth or shortly thereafter. The tumor emanated from the neck in 9 patients, the nasopharynx/oropharynx in 3 patients, the external nose in 1 patient and the face in 1 patient. Nine patients had associated upper airway obstruction. Four underwent an EXIT procedure, with 3 requiring intubation and 1 requiring tracheostomy. All patients underwent surgical resection. One patient demonstrated recurrence at follow-up. CONCLUSIONS Teratoma of the head and neck, though rare, is an important part of the differential diagnosis of neck masses in children, particularly in the perinatal period. The ability to make this diagnosis prenatally with high-resolution fetal ultrasound and MRI (magnetic resonance imaging) permits planning for airway and tumor management prior to delivery. An EXIT procedure should be considered when airway compromise by tumor compression is suspected. Early surgical excision is the treatment of choice and recurrence is rare when a complete resection is achieved.

Microbiology of the Upper and Lower Airways in Pediatric Cystic Fibrosis Patients

Objective To evaluate the microbiology of the upper and lower airways in pediatric cystic fibrosis (CF) patients who underwent sinus surgery. Study Design Retrospective case series with chart review. Setting Tertiary care children’s hospital. Subjects and Methods A total of 201 paired sinus and pulmonary cultures from 105 CF patients were identified between 1996 and 2014. Demographics and culture results were analyzed. Results The mean age of patients was 11.2 ± 5.4 years (range, 1-27 years), and approximately one-half were female. Methicillin-sensitive Staphylococcus aureus was the most common pathogen overall. A significantly higher prevalence of Pseudomonas aeruginosa (32% for pulmonary and 37% for sinus cultures) was observed in older patients versus younger patients (P < .001). There was low to moderate agreement between sinus and pulmonary cultures (Kappa statistic range, 0.03-0.56). The prevalence of methicillin-resistant S aureus (MRSA) increased significantly for lower respiratory tract culture (from 5% to 16%) and sinus culture (from 5% to 27%) between 1996-2004 and 2010-2014 (P = .016 and P < .001, respectively). The prevalence of positive sinus cultures increased from 40% to 85% between 1996-2004 and 2010-2014 (P = .018). Patients with pulmonary MRSA were more likely to be coinfected with pulmonary P aeruginosa (risk ratio, 2.4; 95% CI, 1.2-4.8; P = .015) or Aspergillus fumigatus (risk ratio, 2.2; 95% CI, 1.2-4.8; P = .035). Conclusions There is low to moderate correlation between pulmonary and sinus pathogens in CF patients. This is important to consider when treating infections. The prevalence of MRSA in sinus cultures has increased over time and warrants further investigation.

The presentation and management of granulomatosis with polyangiitis (Wegener's Granulomatosis) in the pediatric airway.

Granulomatosis with polyangiitis (GPA) is a necrotizing inflammatory disease that can affect the airway. The purpose of this study was to present a case of pediatric laryngotracheal GPA and provide management recommendations based on a thorough review of the literature.

Pediatric sialoblastoma: Evaluation and management.

OBJECTIVES Sialoblastoma is a rare congenital salivary gland tumor of epithelial origin. The objectives of this study are to review the literature regarding clinical presentation of sialoblastoma, evaluate the effectiveness of various treatment methods, and present guidelines for evaluation and management in the pediatric population. DATA SOURCES Case presentation and literature review. REVIEW METHODS A comprehensive search was conducted to identify cases of pediatric sialoblastoma in the English-language literature. The presentation, evaluation, and management of reported cases were analyzed. We also report an invasive and recurrent case in a pediatric patient to highlight the aggressive nature of these lesions. RESULTS Sixty-two cases of pediatric sialoblastoma were reviewed. The age at initial presentation ranged from before birth to 15 years. The parotid gland was the most common location (n = 47). Surgical excision was the primary treatment in all patients. Nine patients developed metastatic disease of the lung, lymph nodes, or bone. Almost a third of patients had recurrence and over two thirds of patients were tumor-free for at least 1 year following their last treatment intervention. CONCLUSION Prompt and complete surgical excision should be recommended to prevent local and systemic recurrence of pediatric sialoblastoma. Chemotherapy has also shown promise in several cases, and clinical genomics may shed light on more therapy options. Patients should be closely followed for at least 12 months following diagnosis, or longer depending on the histopathological staging of the tumor.

Nasal versus tracheobronchial biopsies to diagnose primary ciliary dyskinesia: A meta‐analysis

To systematically review the literature regarding the efficacy of different biopsy sites and methods to obtain an adequate ciliary sample for ultrastructural examination with electron microscopy (EM) for the diagnosis of primary ciliary dyskinesia (PCD).

Malignant glomus tumors of the head and neck in children and adults: Evaluation and management

To describe our current multidisciplinary approach to pediatric malignant glomus tumors of the head and neck and review the current literature.

A Systematic Process for Weaning Children With Aspiration From Thickened Fluids

Importance Thickening of fluids is a common strategy for feeding patients with oropharyngeal dysphagia but has known risks and should be stopped once it is safe to do so. Weaning children from thickened fluids safely can be challenging, and novel methods are required. Objective To describe the use of a systematic weaning process (SWP) for children who received thickened liquids owing to oropharyngeal dysphagia and identified risk of aspiration. Design, Setting, and Participants Retrospective case series (2010 to 2015) at a tertiary care center of 50 children with documented aspiration by clinical swallowing assessment, airway evaluation, and videofluoroscopic swallow study with at least 4 months of follow-up. All patients were initially receiving thickened fluids. A 10% reduction in thickness was made every 2 weeks based on clinical symptoms. Caregivers progressed to the next incremental level if there were no signs or symptoms of aspiration. Main Outcomes and Measures Number of patients weaned to a thin-fluid diet. Results Of 50 children (32 [64%] male; median [interquartile range] age, 0.7 [1.0] y at presentation and 1.8 [1.3] y at start of wean) using the SWP, 44 (88%) were able to reduce the amount of thickener used. A successful wean from thickened fluids to thin fluids was completed in 39 (78%). The mean (SD) duration of a successful wean was 0.9 (0.6) years. Five patients tolerated a reduction in thickener but not a full wean to thin fluids. For 6 patients, weaning failed and they continued to receive thickened fluids. Of those whose weaning failed, 2 patients developed pneumonia. Of the 39 successfully weaned patients, 14 (36%) experienced a temporary stall but eventually tolerated thin fluids. Only 2 (5%) developed pneumonia while all other successfully weaned patients (n = 37 [95%]) did not experience any substantial respiratory issues. Overall, 46 (92%) of children required 2 or fewer videofluoroscopic swallow study evaluations. Conclusions and Relevance Patients with oropharyngeal dysphagia and aspiration should be gradually weaned off of thickened fluids. The SWP uses small incremental steps to gradually reduce the amount of thickener. Using this method, most children tolerated a reduction in thickeners and a thin-fluid diet. The SWP presents a safe and effective way of gradually returning children to a more normal diet.

Neurologic Evaluation in Children With Laryngeal Cleft

Importance Referral to a neurologist and imaging play important roles in the management of laryngeal cleft. Swallowing involves a complex series of neuromuscular interactions, and aspiration can result from anatomical causes (eg, laryngeal cleft), neuromuscular disorders, or some combination thereof. To date, no protocols or guidelines exist to identify which patients with laryngeal cleft should undergo neuroimaging studies and/or consultation with a neurologist. Objective To establish guidelines for neurologic evaluation and imaging techniques to identify or rule out neuromuscular dysfunction in children with laryngeal cleft. Design Retrospective review of the medical records of 242 patients who were diagnosed with laryngeal cleft at a tertiary children’s hospital between March 1, 1998, and July 6, 2015. Based on this review, an algorithm to guide management of laryngeal cleft is proposed. Main Outcomes and Measures Data extracted from patient medical records included the type of laryngeal cleft, details of neurologic referral, results of neuroimaging studies, and objective swallow study outcomes. Results Of the 242 patients, 142 were male and 100 were female. Mean age at the time of data analysis was 8.7 years (range, 10 months to 25 years), and there were 164 type I clefts, 64 type II, 13 type III, and 1 type IV. In all, 86 patients (35.5%) were referred to a neurologist; among these, 33 (38.4%) had examination findings indicative of neuromuscular dysfunction or dyscoordination (eg, hypotonia, spasticity, or weakness). Abnormal findings were identified in 32 of 50 patients (64.0%) who underwent brain imaging. Neurosurgical intervention was necessary in 3 patients diagnosed with Chiari malformation and in 1 patient with an intraventricular tumor detected on neuroimaging. Conclusions and Relevance A substantial proportion of patients with laryngeal cleft have coexistent neuromuscular dysfunction as a likely contributing factor to dysphagia and aspiration. Collaboration with a neurologist and appropriate neuroimaging may provide diagnostic and prognostic information in this subset of patients. At times, imaging will identify critical congenital malformations that require surgical treatment.

Post-transplant lymphoproliferative disorder of the pediatric airway: Presentation and management.

OBJECTIVE Post-transplant lymphoproliferative disorder (PTLD) is a rare complication of immunosuppression with little consensus on its evaluation and management. The purpose of this contemporary review is to describe a pediatric patient with PTLD of the airway and review the literature to provide multidisciplinary recommendations regarding management. DATA SOURCES Retrospective chart and literature review. REVIEW METHODS A pediatric patient with PTLD of the airway is described. An extensive literature search to review the existing data on pediatric PTLD of the upper airway was also performed. RESULTS A pediatric patient with mixed fetal/embryonal hepatoblastoma developed laryngo-tracheal PTLD following liver transplantation. Diagnostic positron emission tomography (PET) scan demonstrated multiple sites of abnormal fluorodeoxyglucose (FDG) uptake within the larynx, distal esophagus, cervical lymph nodes, and abdomen concerning for PTLD. Laryngeal biopsy demonstrated Epstein-Barr virus (EBV) positive cells confirming the diagnosis. Rituximab therapy and reduction of immunosuppression resulted in resolution of his laryngeal disease in 3 months. An extensive literature search to review the existing data on pediatric PTLD of the larynx and trachea revealed 14 reported cases. CONCLUSIONS PTLD of the pediatric airway is an EBV-associated disease that requires a high index of suspicion as patients can often present with non-specific signs and symptoms but progress to have significant airway compromise. Evaluation consists of peripheral blood polymerase chain reaction (PCR) assays, biopsy, and PET/CT imaging. Management options include reduction of immunosuppression and/or systemic therapies.