Tracheal Cartilaginous Sleeve in Syndromic Craniosynostosis: An Underrecognized Source of Significant Morbidity and Mortality.

Tracheal cartilaginous sleeve (TCS) is a rare and previously unrecognized source of morbidity and mortality in patients with certain craniosynostosis syndromes. There is a paucity of reporting on this airway anomaly, and the true incidence of TCS is largely unknown. The purpose of this study was to investigate the incidence of TCS among patients with syndromic craniosynostosis at our institution. Patients with syndromic craniosynostosis who underwent direct bronchoscopy and laryngoscopy were evaluated retrospectively by pediatric otolaryngologists for the presence of TCS and associated anomalies. Among patients with a diagnosis of syndromic craniosynostosis in our craniofacial database, 10 (37%) were found to have previous direct bronchoscopy and laryngoscopy reports. Of these 10 patients, 2 had Crouzon syndrome, 3 had Pfeiffer syndrome, 3 had Apert syndrome, 1 had Muenke syndrome, and 1 had Antley-Bixler syndrome. Eighty percent (8/10) of these patients were found to have some evidence of TCS. The most commonly observed associated findings included the following: tracheostomy dependency (7/10; 70%), hearing loss (6/10; 60%), obstructive sleep apnea (5/10; 50%), cervical spine anomalies (5/10; 50%), developmental delay (5/10; 50%), and enlarged cerebral ventricles (4/10; 40%). Larger multicenter studies are required to further characterize this airway anomaly and its impact on this patient population. Our results confirm the importance of thorough airway evaluation at initial presentation and the need for validated screening protocols.

Delayed platysma myocutaneous turnover flap for repair of pharyngocutaneous fistula.

INTRODUCTION: Pharyngocutaneous fistula (PCF) is a common and serious complication after total laryngectomy. Numerous surgical and non-surgical treatment approaches have been described. Here we describe a platysma myocutaneous turnover flap for repair of PCF. MATERIALS AND METHODS: Platysma myocutaneous turnover flap is described and two patients are used as examples. RESULTS: Repair was initially successful in both patients; however, one patient had recurrence of fistula after her cancer recurred at the stoma. DISCUSSION: Numerous surgical techniques have been described for repair of PCF. Here a turnover flap was used, a technique not previously described for this problem. The delay technique enhances the viability of the flap thought to be through numerous mechanisms. CONCLUSION: The platysma myocutaneous turnover flap is useful for closure of pharyngocutaneous fistula when non-operative measures have failed.

Infantile hemangiomas exhibit neural crest and pericyte markers.

Infantile hemangiomas (IHs) are the most common benign tumors of infancy and occur with greater than 60% prevalence on the head and neck. Despite their prevalence, little is known about the pathogenesis of this disease. Given the predilection of hemangioma incidence on the face and its nonrandom distribution on embryological fusion plates, we postulated that IHs are derived from pericytes of the neural crest. We performed an analysis on 15 specimens at various stages of the IH progression. Experiments performed included immunohistochemical staining, immunofluorescent staining, quantitative real-time polymerase chain reaction, and flow cytometry. We analyzed a number of cell markers using these methods, including cell markers for the neural crest, pericytes, endothelial cells, stem cells, and the placenta. We observed that neural crest markers such as NG2 and nestin were expressed in the hemangioma samples, in addition tomultiple pericytes markers including δ-like kinase, smooth muscle actin, calponin, and CD90. Stem cell markers such as c-myc, oct4, nanog, and sox2 were also more highly expressed in hemangioma samples compared to controls. Our work demonstrates that hemangiomas express pericyte, neural crest, and stem cell markers suggesting a possible pathogenetic mechanism.

Differing rates of fungi in sinonasal cultures from pediatric sinusitis patients.

OBJECTIVES: Pediatric chronic rhinosinusitis (PCRS) is a unique clinical entity and the underlying source of inflammation is unknown. Certain subgroups, such as children with nasal polyps and cystic fibrosis (CF) sinusitis are often recalcitrant to standard medical PCRS treatments that target bacterial inflammation. Fungal infection and allergy to fungal proteins drive inflammation in other airway diseases, resulting in chronic inflammation of both the upper and lower airways. However, there is limited understanding of the role of fungi in the pathophysiology of PCRS. The objective of this study is to define the frequency of fungal infection in pediatric CRS patients, hypothesizing that certain subgroups may have more frequent positive fungal sinus cultures than other subgroups of pediatric sinusitis. METHODS: Retrospective study of patients undergoing sinus surgery at a tertiary care pediatric hospital to determine the period prevalence of positive fungal cultures in subgroups of patients. RESULTS: 400 children from 2012 to 2019 were included. 265 patients had surgical culture results available. Of the 52 patients with CF 11 (21%) had positive fungal sinus cultures. Similarly, 28% of the 25 patients with non-CF nasal polyps had positive cultures. Only 8.2% of 110 CRS without polyps patients had positive cultures, significantly fewer than other subgroups (X2 (1, N = 240) = 17.22, p < 0.01). CONCLUSION: Children with CF and children with nasal polyps had more frequent positive fungal cultures than children without nasal polyps having sinus surgery. This confirms that pediatric CF and pediatric CRS with polyps represent unique populations to study the impact of fungal infection in CRS. Further research is required to determine if these fungi represent colonization or contribute to the inflammatory environment of the airways.

Can pediatric sleep questions be incorporated into a risk model to predict respiratory complications following adenotonsillectomy?

BACKGROUND: Adenotonsillectomy, one of the most frequent surgical procedures in children, is usually performed for sleep-disordered breathing, a disease spectrum from primary snoring to obstructive sleep apnea. Children undergoing an adenotonsillectomy may be at risk for perioperative respiratory complications, necessitating intervention or escalation of care. However, there is no effective preoperative screening or risk-stratification model for perioperative respiratory complications that incorporates not only clinical history and physical examination but also sleep question responses for children as there is for adults. OBJECTIVES: The aim of this prospective observational study was to develop a risk-stratification model for perioperative respiratory complications in children undergoing an adenotonsillectomy incorporating not only clinical history and physical examination but also sleep question responses. METHODS: A 25-question sleep questionnaire was prospectively administered preoperatively for 1895 children undergoing an adenotonsillectomy from November 2015 to December 2017. The primary outcome measure was overall perioperative respiratory complications, collected prospectively and defined as having at least one major or minor complication intraoperatively or postoperatively. RESULTS: The incidence of overall perioperative respiratory complications was 20.4%. Preoperative factors associated with perioperative respiratory complications in the multiple regression model were age, race, preoperative tonsil size, the presence of a syndrome, and the presence of a pulmonary disease. None of the sleep questionnaire responses remained in the multivariable analysis. The area under the ROC curve for the risk stratification model incorporating sleep question responses was only 0.6114% (95% CI: 0.60, 0.67). CONCLUSION: Preoperative sleep question responses may be unable to predict overall perioperative respiratory complications in children undergoing an adenotonsillectomy. A robust risk stratification model incorporating sleep question responses with clinical history and physical examination was unable to discriminate or predict perioperative respiratory complications in our population undergoing an adenotonsillectomy.

MicroRNA Microarray Profiling in Infantile Hemangiomas.

Objective: MicroRNAs are short, noncoding RNA molecules that negatively regulate the stability and translational efficiency of target mRNAs. They are critical regulators of growth and development. Our aim was to identify microRNAs involved in the growth and regulation of infantile hemangiomas. In addition, we searched for the presence of Piwi-interacting RNAs in hemangioma tissue as another regulator of infantile hemangiomas. Methods: RNA was extracted from hemangioma specimens from 3 clinical, age-based categories: proliferative (N = 16), quiescent (N = 8), and involuting (N = 9). RNAs from human dermal microvascular endothelial cells were used as controls. MicroRNA microarray was performed, and the expression profiles of the hemangiomas and endothelial cells were compared using the t test. 5' End-labeling of RNA of our hemangioma specimens was performed for Piwi-interacting RNA detection. Results: Analysis confirmed statistically significant downregulated (N = 18) and upregulated (N = 15) microRNAs. Piwi-interacting RNA analysis did not detect Piwi-interacting RNA transcripts in the hemangioma specimens. Conclusions: The differential expression of microRNAs found in our hemangioma specimens provides insight into the regulation of hemangioma formation and proliferation, quiescence, and fibrofatty involution. Piwi-interacting RNA transcripts were not detected in the hemangioma specimens. These novel findings will help in establishing new therapeutic and diagnostic initiatives for these tumors.

Pediatric lymphedema caused by diffuse cervical lymphadenopathy: A case report and review of the literature.

Pediatric head and neck lymphedema is rare and there have not been any reported cases in children. Here we discuss severe, diffuse head and neck lymphedema in a child caused by compression of the internal jugular veins by lymphadenopathy from Kawasaki's disease. With steroid and intravenous immunoglobulin treatment, the lymphadenopathy improved and facial edema slowly resolved. In review of the literature, complications of head and neck lymphedema including airway obstruction and blindness are discussed. This case highlights the importance of the pediatric otolaryngologist considering lymphedema as a cause for facial swelling and monitoring for complications of lymphedema.

A Delayed Finding of a Tracheal Cartilaginous Sleeve in a Patient with Pfeiffer Syndrome Type 2 and a Complex Airway History.

Persistent airway obstruction symptoms in a 2½-year-old boy with Pfeiffer syndrome were attributed to facial abnormalities, central and obstructive sleep apnea, and tracheomalacia from a vascular ring. These findings delayed the diagnosis of a tracheal cartilaginous sleeve. Life expectancy in tracheal cartilaginous sleeve is improved by tracheostomy. Tracheal cartilaginous sleeve should be considered and investigated through airway endoscopy in children with fibroblast growth factor receptor-related craniosynostosis syndromes.

Resistance to thyroid hormone associated with a novel mutation of the thyroid ß receptor gene in a four-year-old female.

Resistance to thyroid hormone (RTH) is a rare syndrome of reduced responsiveness of target tissues to thyroid hormone and is caused mutation in the thyroid ß receptor gene. We report a novel mutation, E445X, causing RTH in a 4-year old girl. The patient exhibited extreme signs and symptoms of RTH at an early age, and had a large compressive goiter. Following total extracapsular thyroidectomy, upper airway compression was relieved and symptoms of hyperthyroidism improved. This case appears to be the youngest child recorded to have undergone total thyroidectomy for RTH. Post-operative TSH elevations were managed with every-other-day triiodothyronine therapy.

Case report: Treatment failure using propanolol for treatment of focal subglottic hemangioma.

Subglottic hemangioma is a rare, potentially life threatening tumor of infancy which poses serious treatment challenges. A number of medical and surgical therapies over the years have met with variable success, and are associated with numerous potential morbidities. A potential windfall in the management of infantile hemangiomas has arisen with the recent identification of propanolol as a highly efficacious and relatively safe new treatment modality. At least five reports in the literature have described the rapid, successful treatment of airway hemangiomas with oral propanolol. We describe the first reported treatment failure with propanolol for subglottic hemangioma in an infant who initially responded dramatically to the medication.