Neuroradiographic findings in 22q11.2 deletion syndrome.

22q11.2 deletion syndrome (22q11.2DS) is a common genetic disorder with enormous phenotypic heterogeneity. Despite the established prevalence of developmental and neuropsychiatric issues in this syndrome, its neuroanatomical correlates are not as well understood. A retrospective chart review was performed on 111 patients diagnosed with 22q11.2DS. Of the 111 patients, 24 with genetically confirmed 22q11.2 deletion and brain MRI or MRA were included in this study. The most common indications for imaging were unexplained developmental delay (6/24), seizures of unknown etiology (5/24), and unilateral weakness (3/24). More than half (13/24) of the patients had significant radiographic findings, including persistent cavum septi pellucidi and/or cavum vergae (8/24), aberrant cortical veins (6/24), polymicrogyria or cortical dysplasia (4/24), inner ear deformities (3/24), hypoplastic internal carotid artery (2/24), and hypoplastic cerebellum (1/24). These findings reveal the types and frequencies of brain malformations in this case series, and suggest that the prevalence of neuroanatomical abnormalities in 22q11.2DS may be underestimated. Understanding indications for imaging and frequently encountered brain malformations will result in early diagnosis and intervention in an effort to optimize patient outcomes.

Bioluminescent imaging of pneumococcal otitis media in chinchillas.

OBJECTIVES: Bioluminescent imaging has emerged as a powerful tool for monitoring the pathological process of infections in animals. The purpose of this study was to harness this new tool for objective assessment of acute otitis media (AOM) in animals with and without antibiotic interventions. METHODS: Thirty-six healthy chinchillas, free of middle ear infections, were randomly divided into a control group and a group that received amoxicillin treatment. Bioluminescent Streptococcus pneumoniae (Xen 10) was injected into the epitympanic bullae of chinchillas (50 colony-forming units each) for induction of AOM. The infectious process of Xen 10 in the bullae of living animals with and without antibiotic interventions was monitored in real time with bioluminescence equipment. RESULTS: A dynamic change of bioluminescent signals in the bullae of chinchillas from days 1 to 14 was observed after Xen 10 injection. Amoxicillin treatment reduced the bioluminescent signals in the bullae of chinchillas compared with controls. The AOM persisted for 14 days, and middle ear effusion for 6 weeks, in the control animals, whereas AOM lasted for 2 days, and effusion for 6 to 12 days, in the antibiotic-treated animals. CONCLUSIONS: Bioluminescent imaging provides an innovative method for assessment of the bacterial loads in the middle ear of chinchillas in a real-time manner and is very useful for objective evaluation of the efficacy of therapeutic interventions.

Predicting surgical outcomes in pediatric cervicofacial nontuberculous mycobacterial lymphadenitis.

OBJECTIVES: We examined surgical outcomes in children with cervicofacial nontuberculous mycobacterial lymphadenitis and attempted to identify predictors of complications. METHODS: A retrospective chart review from 2 tertiary pediatric centers was used to identify .11 presentation or operative variables (age at surgery, gender, symptom duration, pain, violaceous skin changes, skin breakdown, fluctuance, purified protein derivative positivity, operative procedure, use of nerve integrity monitoring, and use of skin flap advancement) and to compare these to 5 postoperative complications (facial nerve dysfunction [paresis or paralysis], poor scarring, recurrence, wound infection, and wound dehiscence without infection). RESULTS: The 45 patients analyzed for presentation or operative variables (28 female, 17 male; average age, 31.2 months) typically presented with painless masses averaging 8.2 weeks in duration, along with violaceous skin changes in 29 of the 45 cases (64%) and skin breakdown in 9 cases (20%). The surgical procedures included parotidectomy with or without selective lymphadenectomy in 38 of the 45 cases (84%) and lymphadenectomy alone in 7 cases (16%). Skin resection and cervicofacial advancement flap reconstruction was performed in 20 cases (44%). Nerve integrity monitoring was utilized in 32 cases (71%). In the 44 patients analyzed for postoperative complications, we found facial nerve paresis in 14 (31.8%), poor scarring in 9 (20.5%), wound infection in 6 (13.6%), recurrence in 4 (9.1%), and facial nerve paralysis in 2 (4.5%). Nine of the 14 cases (64.3%) of initial facial nerve paresis resolved. At final follow-up, facial nerve paresis persisted in 5 of the 14 children (35.7%) with initial postoperative paresis and in 1 of the 2 children (50.0%) with initial postoperative paralysis. Facial nerve paralysis persisted in the other child with initial postoperative paralysis. Overall, 6 of these 7 patients (85.7%) with persistent facial nerve dysfunction had follow-up of less than 1 month. All transient and permanent facial nerve dysfunction was in the distribution of the marginal mandibular nerve only. No statistically significant predictors of complications were identified. CONCLUSIONS: We report acceptable but not insignificant rates of marginal mandibular distribution facial nerve injury, poor scarring, wound infection, and recurrence following resection of cervicofacial nontuberculous mycobacterial lymphadenitis in children that must be discussed with patients and parents before operation. No presentation or operative variables predicted the complications.

Use of intraoperative laryngeal electromyography to evaluate stridor in children with arthrogryposis.

OBJECTIVES: Arthrogryposis is a rare, congenital condition characterized by joint contractures of the extremities with muscle weakness and fibrosis. The otolaryngological manifestations of this disorder may include stridor, chronic aspiration, and Pierre Robin sequence, among others. Prior reports of vocal fold immobility associated with arthrogryposis have attributed it to recurrent laryngeal nerve paralysis, rather than to cricoarytenoid joint restriction. The objective of this study was to determine whether children with arthrogryposis and vocal fold immobility demonstrated laryngeal electromyography (L-EMG) findings consistent with recurrent laryngeal nerve paralysis or with cricoarytenoid joint restriction. METHODS: A retrospective, institutional chart review of children with otolaryngological manifestations of arthrogryposis was performed; 6 children were identified. Three patients had vocal fold immobility documented by flexible laryngoscopy. These 3 children were prospectively evaluated with direct laryngoscopy and intraoperative L-EMG. RESULTS: The 3 children with arthrogryposis and vocal fold dysfunction had laryngoscopy-confirmed vocal fold immobility or significant restriction of motion. The intraoperative L-EMG tracings obtained from all 3 patients demonstrated motor unit action potentials without evidence of denervation. CONCLUSIONS: This series, albeit small, suggests that the vocal fold dysfunction related to arthrogryposis may be attributable to cricoarytenoid joint restriction or poor laryngeal coordination, rather than to nerve paralysis, as originally postulated.

Hoarseness in children with cleft palate.

OBJECTIVE: Determine the rate of hoarseness in children with cleft palate (CP). Understand the relationship between velopharyngeal insufficiency (VPI) and hoarseness in children with CP. STUDY DESIGN: Case series with chart review. SUBJECTS AND METHODS: Retrospective chart review of 185 patients with CP treated by a Children's Hospital Cleft Team and born between 1991 and 2001. RESULTS: Of total patients, 54.1 percent were male and 45.9 percent female. All types of CP were represented. The overall rate of hoarseness was 20.0 percent at age 3-4 and 18.4 percent at age 6-7. The presence of VPI did not correlate with the presence of hoarseness or dysphonia. VPI decreased when comparing age 3-4 (58.4%) with age 6-7 (30.2%, P < 0.001), but the hoarseness rates did not change, 20.8 percent at age 3-4 and 19.5 percent at age 6-7 (P = 0.56). CONCLUSION: Patients with CP are thought to have increased risk of voice disturbances due to compensatory articulation mechanisms used when a patient has VPI. However, this study of 185 patients with CP showed no relationship between VPI and hoarseness. The overall rate of hoarseness of this population with CP was within the reported range for the normal population of children. These findings suggest that the theory that VPI causes hoarseness due to compensatory speech mechanisms may be incorrect.

Symptom duration and CT findings in pediatric deep neck infection.

OBJECTIVE: To investigate whether children with less than 48 hours of localized symptoms of deep neck infection are less likely to have an abscess on CT scan. STUDY DESIGN: Case series. SUBJECTS AND METHODS: The charts of children seen in a tertiary children's hospital for deep neck infections between 2000 and 2007 were reviewed. RESULTS: Of 179 children identified, 167 (93.3%) underwent a CT scan of the neck of which 102 (61.1%) were positive for abscess. There was no significant difference in the rate of abscess on CT between children with less than 48 hours of localizing symptoms and 48 or more hours of symptoms at 58.1 percent and 58.3 percent, respectively (P = 0.98). Furthermore, there was no significant difference in age, gender, C-reactive protein levels, disease location, or length of stay between children with and without abscess on CT. White blood cell counts were significantly higher in the abscess group (P = 0.01); however, the median white blood cell count in both groups was above normal. CONCLUSION: Because duration of symptoms does not predict finding of abscess on CT, it is appropriate to obtain a CT scan upon presentation in all children with symptoms concerning for neck abscess.

Surgical Outcomes for the Treatment of Velopharyngeal Insufficiency in 22q11.2 Deletion Syndrome.

This study aimed to compare outcomes of concomitant palatoplasty and sphincter pharyngoplasty with pharyngeal flap and sphincter pharyngoplasty alone for the treatment of velopharyngeal insufficiency in patients with 22q11.2 deletion syndrome. Thirty-one cases were identified for inclusion in the study. Patients were separated into 3 surgical groups: combined palatoplasty and sphincter pharyngoplasty (n = 11), pharyngeal flap (n = 7), and sphincter pharyngoplasty (n = 13). Outcome measures included perceptual speech analyses, surgical complications, and revision rates. There were no differences in preoperative speech analysis scores (P = .31). The combined palatoplasty and sphincter pharyngoplasty procedure had similar speech outcomes compared to pharyngeal flap, and both were significantly better than sphincter pharyngoplasty alone. Complication rates (P = .61) and the need for revision surgery (P = .25) were similar among all 3 groups. Concomitant palatoplasty and sphincter pharyngoplasty may be an alternative treatment for velopharyngeal insufficiency in children with 22q11.2 deletion syndrome.

Resolving feeding difficulties with early airway intervention in Pierre Robin Sequence.

OBJECTIVES/HYPOTHESIS: To observe rates of gastrostomy tube (g-tube) placement in Pierre Robin Sequence (PRS) and to determine whether relieving airway obstruction solves feeding difficulties. STUDY DESIGN: All PRS referrals to a multidisciplinary cleft team for children at a tertiary pediatric hospital from January 1988 to June 2006 were retrospectively reviewed. METHODS: Patients were analyzed for occurrence of g-tube placement, neurologic disorders, and airway intervention including tracheotomy and mandibular distraction osteogenesis. RESULTS: Sixty-seven PRS patients were divided into two categories: 51 (76.1%) isolated PRS (iPRS) and 16 (23.9%) with additional disorders and syndromes (sPRS). Patients were then placed into two subgroups: those who received early airway intervention and those who received late or no airway intervention. Of the 51 iPRS children, 12 (23.5%) received early airway intervention, none of whom required a g-tube. There were 39 (76.5%) children who received late or no airway intervention, and 5 (12.8%) of these required g-tube placement. Of the 16 sPRS children, 8 (50%) received early airway intervention, and 7 (87.5%) of these still required a g-tube. Of the remaining 8 (50%) sPRS patients who received late or no airway intervention, 5 (62.5%) required a g-tube. CONCLUSION: In children with iPRS, feeding difficulties can be resolved with early airway intervention. Delaying airway intervention may necessitate feeding assistance because all of the iPRS children who required a g-tube fell into this category. The presence of additional disorders and syndromes further complicates treatment because most of the sPRS children required g-tubes regardless of airway intervention.

Airway interventions in children with Pierre Robin Sequence.

OBJECTIVE: To describe the interventions required for successful airway management in children with Pierre Robin Sequence (PRS). STUDY DESIGN: Case series. SUBJECTS AND METHODS: The records of both a cleft and craniofacial clinic and a pediatric otolaryngology clinic were searched, and all children with PRS were identified. Data concerning feeding interventions, airway interventions, and comorbid conditions were extracted. RESULTS: Seventy-four cases of PRS were identified. Thirty-eight of the 74 children required airway intervention other than prone positioning. Fourteen of these 38 were managed nonsurgically with nasopharyngeal airway and/or short-term endotracheal intubation, whereas the remaining 24 required surgical intervention. Eighteen of the 24 underwent distraction osteogenesis of the mandible, one underwent tracheostomy, and five underwent tracheostomy followed by eventual distraction. CONCLUSION: In our series, over 50 percent of children with PRS required an airway intervention. These were both nonsurgical and surgical. As otolaryngologists, we must be prepared for the challenges children with PRS may present and the interventions that may be necessary to successfully manage these difficult airways.

Assisted Reproduction is Not Associated with Increased Risk of Congenital Head and Neck Defects.

This abstract was presented at the American Academy of Otolaryngology-Head and Neck Surgery Annual Meeting, Orlando, FL, September 2014 with the abstract published (Neumann C, Thompson D, and Sidman J; Assisted reproduction is not associated with increased risk of head and neck defects; Otolaryngology-Head and Neck Surgery; Vol 151, Issue 1, supplement, 2014). Objectives - Compare the rate of head and neck anomalies between children conceived via artificial reproductive technology (ART) versus those conceived via natural methods. - Determine the risk of congenital head and neck abnormalities associated with ART. Study design A retrospective chart review cross-sectional study from 2004-2014 of all patients admitted to the neonatal intensive care unit (NICU) at a tertiary pediatric hospital. Results A total of 14,857 charts were examined; 2,288 patients were conceived via ART, while 12,569 patients were conceived via natural methods. There were 8,022 males and 6,637 females. There were 40 patients born with defects via ART, while there were 681 patients born with defects via natural conception. The total occurrence of congenital malformations was higher for patients conceived naturally versus those conceived with artificial reproduction (5.41% vs. 1.74%). The odds ratio was 0.31 with a 95% CI of 0.23 to 0.43 and a P-value of < 0.0001; the relative risk of having any one of the head and neck defects with ART was 1.04 with a 95% CI of 1.03 to 1.05 and a P-value < 0.0001. Conclusion There appears to be no increased risk of congenital head and neck defects in children conceived via ART versus those conceived naturally.

Sleep and Speech Outcomes After Superior Adenoidectomy in Children with Cleft Palate.

Objective To describe the sleep and speech outcomes in patients with cleft palate who underwent superior adenoidectomy. Subjectives and methods This is a case series with chart review of patients with diagnoses of cleft palate and sleep disordered breathing (SDB), obstructive sleep apnea (OSA) or nasal obstruction treated with superior adenoidectomy from 1991-2015 at the Children's Hospital of Minnesota. Postoperative clinic notes documented the changes in symptoms following surgery. All speech outcomes were recorded. Results Fifty patients (23 females, 27 males) aged 11 months to 17 years were included. Forty-six patients (92%) had improvement of sleep symptoms including snoring, nighttime restlessness, and witnessed apnea events, following superior adenoidectomy. Forty-two of the 46 patients (91%) had stable speech postoperatively with either no development or no worsening of velopharyngeal insufficiency (VPI). Conclusion Superior adenoidectomy is an effective procedure to alleviate symptoms of sleep disordered breathing in patients with cleft palate without significantly affecting speech.

Excision of sublingual gland as treatment for ranulas in pediatric patients.

OBJECTIVE: The aim of this case study is to demonstrate that post-operative complication rates of sublingual gland excision for treatment of ranulas are equal to or less than alternative methods with a lower recurrence rate than other surgical methods. METHODS: This was a retrospective review of pediatric patients from 2004 to 2015 at Children's Hospitals and Clinics of Minnesota. Sixteen ranulas and 6 plunging ranulas were treated via sublingual gland excision during this time frame. Data examined included age, gender, scans of the lesion, location and size of lesion, surgical procedures, complications, and recurrence. RESULTS: There were 22 patients who met criteria. Only one patient had recurrence of the lesion (4.5%). One patient reported lateral tongue numbness post-operatively, and one patient had a hypoglossal nerve injury, with tongue deviation upon exam. Both of these complications were temporary and resolved within months of the procedure. CONCLUSION: Although sublingual gland excision is a definitive treatment for ranulas, many surgeons still utilize other methods such as marsupialization, drainage of the cyst, or excision of ranula alone as the primary method of treatment due to concerns about complications. This retrospective study demonstrates that excision of the sublingual gland is both a safe and effective method of treatment for ranulas.

Tracheotomy and decannulation rates in a level 3 neonatal intensive care unit: a 12-year study.

OBJECTIVE: The objective of this study was to determine the rates of tracheotomy tube placement and subsequent decannulation in all admissions to a single-site, tertiary newborn intensive care unit (NICU). METHODS: Records from total admissions to a tertiary single-site NICU between January 1, 1991, and December 31, 2002, were retrospectively analyzed. Long-term medical follow-up for this cohort included data through September 1, 2003. All patients were analyzed for occurrence of tracheotomy tube placement and decannulation, airway procedures, and comorbidities. RESULTS: There were 10,428 total NICU admissions during the 12-year study period. Seventy-eight (0.7%) of these patients underwent tracheotomy tube placement. Sixty-six of these 78 (85%) infants survived. None of the 12 deaths were related to tracheotomy tube placement. The most common indications for tracheotomy tube placement were subglottic stenosis (32%), chronic lung disease (28%), craniofacial abnormality (14%), chronic ventilator dependency (11%), and a neurologic disorder (8%). Decannulation was achieved in 41 of 66 (62%) survivors. Patients who failed decannulation had a major neurologic disorder, underlying pulmonary disorder, or both. CONCLUSION: A baseline tracheotomy tube placement rate of 0.7% was observed in this single-site tertiary NICU setting. Decannulation was accomplished early in life in two thirds of the surviving infants. Those infants failing decannulation had either severe underlying pulmonary or neurologic disorders.

Early Airway Intervention for Craniofacial Anomalies.

This article reviews the presentation of children with craniofacial anomalies by the most common sites of airway obstruction. Major craniofacial anomalies may be categorized into those with midface hypoplasia, mandible hypoplasia, combined midface and mandible hypoplasia, and midline deformities. Algorithms of airway interventions are provided to guide the initial management of these complex patients.

Patterns of Pediatric Mandible Fractures in the United States.

IMPORTANCE: The mandible is arguably the most frequently fractured facial bone in children. However, facial fractures are rare in children compared with adults, resulting in few large studies on patterns of pediatric facial fractures. OBJECTIVE: To report the patterns, demographics, and cause of pediatric mandible fractures across the United States. DESIGN, SETTING, AND PARTICIPANTS: A retrospective analysis was conducted of the Healthcare Cost and Utilization Project's National Emergency Department Sample from January 1 to December 31, 2012, using the International Classification of Disease, Ninth Revision, codes for mandible fractures (802.20-802.39) among patients 18 years and younger who presented to emergency departments. Demographics, fracture site, and fracture mechanism were analyzed to identify factors associated with fractures. Analysis was conducted from July 9 to July 28, 2015. RESULTS: There were 1984 records, representing a weighted estimate of 8848 cases of pediatric mandible fracture. The mean patient age was 14.0 years (95% CI, 13.6-14.3). The male to female ratio was 4:1 and females were comparatively younger, with a mean age of 12.5 years (95% CI, 11.8-13.1; P < .001). The most frequently fractured sites were the condyle, in 1288 patients (14.6% [95% CI, 12.6%-16.5%]), and the angle, in 1252 patients (14.1% [12.4%-15.9%]). Associated intracranial injuries occurred in 756 patients (8.5% [7.1%-10.0%]), and cervical spine fractures occurred in 393 (4.4% [3.5%-5.4%]). The fracture site and mechanism of injury varied with age and sex. For patients 12 years and younger, the most frequent fracture site was the condyle, accounting for 636 fractures (27.9% [24.2%-31.6%]), and the most frequent cause was falls, accounting for 692 fractures (30.3% [25.9%-34.8%]). In teenaged patients (13-18 years), the angle was the most frequent fracture site, accounting for 1157 fractures (17.6% [15.6%-19.6%]), and the most frequent cause was assault, accounting for 2619 fractures (39.9% [36.4%-43.3%]). For male patients, the angle was the predominant site, accounting for 1053 fractures (15.0% [13.1%-16.8%]), and the leading cause was assault, accounting for 2360 fractures (33.5% [30.2%-36.9%]). For female patients, the condyle was the most frequent site, accounting for 369 fractures (20.3% [16.0%-24.6%]), and the leading cause was falls, accounting for 422 fractures (23.2% [18.6%-28.0%]). CONCLUSIONS AND RELEVANCE: In this study, age and sex disparities among pediatric mandible fractures were identified. Younger patients and female patients tend to have condyle fractures caused more commonly by falls while older patients and male patients tend to have angle fractures caused by assault. LEVEL OF EVIDENCE: NA.

Use of External Distractors and the Role of Imaging Prior to Mandibular Distraction in Infants With Isolated Pierre Robin Sequence and Stickler Syndrome.

IMPORTANCE: Computed tomographic (CT) scans are often obtained before mandibular distraction osteogenesis in patients with isolated Pierre Robin sequence. There is concern regarding the risk of radiation exposure from CT in children. OBJECTIVE: To evaluate whether preoperative CT is necessary for adequate airway, feeding, and aesthetic outcomes following mandibular distraction with external distraction devices in infants with isolated Pierre Robin sequence. DESIGN, SETTING, AND PARTICIPANTS: In a retrospective review of medical records, infants who underwent mandibular distraction between January 1, 1998, and September 30, 2014, at 2 tertiary children's hospitals were identified using procedure codes. Data analysis was conducted December 1, 2014, to March 31, 2015. Fifty-two patients fit the inclusion criteria of isolated Pierre Robin sequence or Stickler syndrome, of being younger than 9 months at the time of distraction, and of use of external distractors. Forty-two of these infants did not receive preoperative CT imaging. EXPOSURE: Mandibular distraction osteogenesis for isolated Pierre Robin sequence or Stickler syndrome. MAIN OUTCOME MEASURES: Number of infants who were able to avoid tracheostomy or achieve decannulation, who were able to avoid placement or achieve removal of a gastrostomy tube, and in whom there were no intraoperative complications, no open-bite deformity, no malocclusion, no asymmetry, and no postoperative complications. RESULTS: In comparison with the 10 infants who underwent preoperative CT, all 42 of the infants (100%) who did not receive preoperative CT imaging successfully avoided tracheostomy or achieved decannulation (P = .04) and 40 patients (95%) did not require placement of a gastrostomy tube or were able to undergo gastrostomy tube removal postoperatively (P < .001). There were no significant differences between the CT and non-CT groups in the other 5 outcome measures. Two patients (5%) required postoperative gastrostomy tube placement, 2 patients (5%) had minor intraoperative complications that might have been anticipated with CT, 2 patients (5%) demonstrated malocclusion, and 1 infant (2%) had asymmetry at the end of the distraction phase. CONCLUSIONS AND RELEVANCE: This series suggests that the absence of preoperative CT does not compromise functional or aesthetic outcomes in mandibular distraction with external distraction devices in infants with isolated Pierre Robin sequence or Stickler syndrome. This finding has implications for cost containment and reduction of radiation exposure to a vulnerable population. LEVEL OF EVIDENCE: 4.

Tramadol versus codeine/acetaminophen after pediatric tonsillectomy: A prospective, double-blinded, randomized controlled trial.

OBJECTIVE: Tonsillectomy is one of the most common pediatric surgical procedures performed in the United States. The postoperative period can be particularly painful, and there is currently no consensus on an optimal analgesic regimen. The objective of this study was to evaluate efficacy and safety of the single drug tramadol versus codeine/acetaminophen post-tonsillectomy. DESIGN: Prospective, double-blinded, randomized controlled trial. SETTING: Large, Midwestern US pediatric hospital. PATIENTS: Eighty-four children aged 4-15 years who underwent a tonsillectomy (with or without adenoidectomy) procedure were randomized and 74 were included in the analysis. INTERVENTIONS: Group 1 received liquid codeine/acetaminophen for 10 days post-tonsillectomy (5 days scheduled, followed by 5 days as-needed). Group 2 received liquid tramadol for 10 days post-tonsillectomy (5 days scheduled, followed by 5 days as-needed). MAIN OUTCOME MEASURES: Efficacy and side effects were evaluated using a 10-day take-home diary that was completed by parents. RESULTS: Children in both study arms reported adequate post-tonsillectomy pain management without significant differences between groups in pain scores. Oversedation was significantly higher on the day of surgery in the codeine/acetaminophen group, and itching was experienced by significantly more children in the tramadol group during the postoperative period. CONCLUSIONS: As part of multimodal analgesia, scheduled plus as-needed tramadol may be considered for children in the postoperative setting due to its analgesic properties, low potential for side effects, and good safety profile.

Tracheal agenesis in newborns.

OBJECTIVES/HYPOTHESIS: A series of three newborns with tracheal agenesis is described. The preferred methods of diagnosis, description of the clinical course, and a review of the pertinent embryology, associated anomalies, and clinical management are presented. STUDY DESIGN: A retrospective study of a clinical series of referred patients from 2002 to 2003 who were seen at a single institution. METHODS: Chart review for clinical course and pathological specimens was performed in all cases. Three patients were identified with tracheal agenesis. RESULTS: All three newborns died within 48 hours of birth. All of the children underwent emergency laryngoscopy and neck exploration. Gross and microscopic pathological examination was accomplished on all patients. CONCLUSION: Although tracheal agenesis is rare, it may be more common than previously thought. The diagnosis is not straightforward, and the prognosis is grim. The embryology of the trachea and other foregut derivatives is closely related, and associated birth defects are common.

Spontaneous tracheal and subglottic tears in neonates.

OBJECTIVES/HYPOTHESIS: Spontaneous rupture of the trachea or subglottis as a complication of difficult delivery has not been reported in the United States literature. There have been a few cases reported in the European literature. The present report describes a series of newborns with this complication and discusses the signs and treatment options of this difficult, life-threatening problem. STUDY DESIGN: Retrospective review. METHODS: Newborns born between 1996 and 2001 who were treated for spontaneous subglottic or tracheal rupture at a tertiary care children's hospital neonatal intensive care unit were reviewed. RESULTS: Four cases of spontaneous subglottic rupture were seen at the hospital. In three of the four cases the tracheas were intubated on an emergency basis after subcutaneous air was noted in the anterior aspect of the neck. In the fourth patient the trachea was not intubated until the subglottic tear was visualized intraoperatively. Two of the four patients died. One died without securing of an airway; the other died of complications of prolonged hypoxia. Eight cases from European literature of spontaneous neonatal subglottic and tracheal tears are reviewed and are compared with the cases presented in the current report. CONCLUSIONS: Early detection of airway rupture by flexible endoscopy is essential for timely diagnosis and appropriate treatment. Standard endotracheal intubation can exacerbate the problem and should be deferred if possible until direct airway visualization can be accomplished. Signs associated with tracheal tears include subcutaneous emphysema, respiratory distress, pneumothorax, and pneumomediastinum. These should lead to emergent consultation with otolaryngologists for examination and securing of the airway.

Mandibular distraction to relieve airway obstruction in children with cerebral palsy.

OBJECTIVE: To determine the effectiveness of distraction osteogenesis of the mandible for relief of airway obstruction in neurologically impaired children. DESIGN: Prospective pilot study. SETTING: Tertiary care children's hospital. PATIENTS: Five children with upper airway obstruction secondary to hypotonia were identified by airway endoscopy, pulse oximetry, and polysomnography. Four children were tracheotomy-dependent because of upper airway obstruction, and 1 was being considered for tracheotomy because of progressive airway obstruction. INTERVENTIONS: All patients underwent distraction osteogenesis of the mandible for relief of their airway obstruction. MAIN OUTCOME MEASURES: Treatment success was determined by endoscopy, continuous pulse oximetry, and polysomnography. RESULTS: Four of the 5 children underwent distraction osteogenesis of the mandible with successful resolution of airway obstruction or tracheotomy decannulation. One child did not show adequate improvement of upper airway obstruction and remained tracheotomy-dependent. Follow-up was 2 to 40 months. CONCLUSIONS: Children with cerebral palsy and hypotonia of the upper airway may achieve relief of their chronic airway obstruction following distraction osteogenesis of the mandible. Appropriate selection criteria must be adhered to, including demonstration of tongue base obstruction on flexible laryngoscopy.