Unusual Cause of Respiratory Distress in a Term Neonate.

Background: Respiratory distress is a clinical finding often seen in neonates. Common causes of respiratory distress in this population include respiratory distress syndrome, transient tachypnea of the newborn, infection, aspiration, and cardiac etiologies. We present the case of a neonate who presented with respiratory distress with no identifiable cause on initial workup. The patient was eventually found to have a variant of a genetic mutation that predisposed the infant to this presentation. Case Report: A term male infant born via spontaneous vaginal delivery was admitted to the pediatric service at 3 weeks of age because of tachypnea. Chest x-ray showed perihilar infiltrates. Septic screen, thyroid function test, sweat test, echocardiogram, intracranial ultrasound, and modified barium swallow were normal. Computed tomography scan of the chest showed ground glass opacities in the upper and lower lobes. Airway evaluation showed no evidence of obstruction or anatomic abnormalities. Bronchoscopy showed no masses or tracheomalacia. Bronchoalveolar lavage was negative for infection. The infant was treated with intravenous antibiotics, steroids, and furosemide but continued to be tachypneic and required supplemental oxygen. Genetic studies were obtained to assess for surfactant deficiencies, and the patient was transferred to another center for a higher level of care. Genetic evaluation was positive for NKX2.1 variance mutation C.190C. The patient's symptoms improved, and he was weaned to room air by 3 months of age. Conclusion: When evaluating a child with unexplained pulmonary disease, clinicians should have a high index of suspicion for interstitial lung disease including surfactant protein mutations.

Effect of Weather on Frequency of Vaso-Occlusive Crisis in Children With Sickle Cell Disease.

Introduction Sickle cell disease (SCD) is characterized by acute vaso-occlusive crisis (VOC) often manifested as painful episodes. Environmental factors are known to play a role in the frequency and severity of VOC. Methods The aim of this study is to analyze the relationship between weather changes and VOC in children with SCD. Data on daily temperature, humidity, and wind speed in Brooklyn, New York was collected over one year. Daily census data of children < 20 years of age with SCD presenting with VOC during the study period was retrieved from the Health Information Systems database. Data was analyzed to determine correlations of daily temperature, humidity, and wind speed with the number of VOCs using Pearson correlation co-efficient and time-series statistics. Results The total number of episodes of VOC was 344, with 218 outpatients and 126 inpatients. Total episodes of VOC peaked during January (n=44), while they were lowest in July (n=16). We observed a negative correlation of VOC with temperature (r= -0.05, p=0.04) and no correlation with humidity (r=0.01, p=0.85) was noted. Analysis of wind speed showed a negative correlation with VOC which is not significant. Conclusion No significant correlation was found between changes in humidity or wind speed and VOC. As this study was performed in an urban environment with extreme weather changes, results may be different in other geographic areas.

Asthma is associated with increased probability of needing CPAP in children with severe obstructive sleep apnea.

OBJECTIVE: Initiation of continuous positive airway pressure (CPAP) in children with severe obstructive sleep apnea syndrome (OSAS) is challenging and the distinct features of the subset of children requiring CPAP are poorly defined. Asthma often coexists with OSAS in children. The goal of this study was to explore the influence of asthma in the need for CPAP therapy in children with severe OSAS. HYPOTHESIS: Asthmatic children with severe OSAS have higher probability of needing CPAP than children with severe OSAS without asthma. METHODS: Cross-sectional study of clinical presentation, individual risk factors, and initial overnight polysomnogram (PSG) parameters in children with severe OSAS. Severe OSAS was defined as an obstructive apnea hypopnea index ≥10/h. The association between asthma and CPAP initiation was studied individually and adjusted by pertinent covariates. RESULTS: Four hundred eligible children (mean age 7 years, ±SD 5.3) with severe OSAS were enrolled and 133 individuals (33%) were identified to have asthma. The proportion of children needing CPAP was significantly higher in asthmatics with severe OSAS (29%) compared to those with OSAS alone (14%) (P < 0.01). Multivariate analysis demonstrated that the association between asthma and the need of CPAP in pediatric severe OSAS was independent of demographics, OSAS severity, obesity, and history of adenotonsillectomy (P < 0.01). CONCLUSION: Asthmatic children with severe OSAS have higher probability of needing CPAP independent of relevant covariables. This study further substantiates the link between OSAS and asthma in children and suggests the diagnosis of asthma may influence the need of CPAP therapy for severe OSAS.

Sino-Nasal 5 Questionnaire is Associated with Poor Asthma Control in Children with Asthma.

Up to 80% of asthmatic children may experience upper airway symptoms which are often perceived as coming from the lower airways. Currently, there are no validated questionnaires to assess upper airway contribution to pediatric asthma symptoms. The Sino-Nasal 5 (SN-5) questionnaire was previously validated for identifying radiographic confirmed sinus disease in children. In this study, we hypothesize that significant SN-5 scores (≥3.5) are associated with abnormal National Asthma Education and Prevention Program (NAEPP) based asthma impairment and control in asthmatic children. Retrospective data collected on children with asthma referred for pulmonary evaluation included age, gender, ethnicity, NAEPP asthma severity, asthma control (Test for Respiratory and Asthma Control in Kids (TRACK) < 5 years, Asthma Control Test (ACT) 5 years) and pulmonary function testing. Associations between SN-5 scores and asthma impairment and control were identified. Seventy-six children were evaluated; 38% were female with a mean age of 6.9 years. Significant SN-5 scores were associated with decreased control of daytime symptoms (odds ratio (OR): 0.16 (95% confidence interval (CI): 0.06-0.44)), night time awakenings (0.09 (0.03-0.29)), activity interference (0.2 (0.06-0.68)), NAEPP defined asthma control (0.32 (0.12-0.85)) and poor asthma control based on TRACK (p < 0.001) and ACT (p < 0.001). This suggests upper airways may play a larger role in perceived lower airway symptoms, and SN-5 may be beneficial in assessing the contribution of upper airway conditions on asthma control.

Sclerosing Epithelioid Fibrosarcoma of the Parietal Bone and Adjacent Meninges in an Adolescent: A Case Report.

Sclerosing epithelioid fibrosarcoma (SEF) is a rare and aggressive tumor for which no standardized treatment regimens are available. The occurrence of this tumor in children and adolescents has been rarely reported, especially in the head and neck region. Involvement of the neuraxis is reported only in a few patients. We report a case of a 13-year-old boy with SEF of the skull with intracranial extension. The tumor recurred after initial resection and rapidly spread to the brain parenchyma and the meninges with no response to surgery, chemotherapy and radiation therapy.