Child Interstitial Lung Disease in an Infant with Surfactant Protein C Dysfunction due to c.202G>T Variant (p.V68F).

For newborns suspected having childhood interstitial lung disease (ChILD), the sequencing of genes encoding surfactant proteins is recommended. However, it is still difficult to interpret the clinical significance of those variants found. We report a full-term born female infant who presented with respiratory distress and failure to thrive at 2 months of age and both imaging and lung biopsy were consistent with ChILD. Her genetic test was initially reported as a variant of unknown significance in surfactant protein C (c.202G > T, p.V68F), which was modified later as likely pathogenic after reviewing a report of the same variant as causing ChILD. The infant was placed on noninvasive ventilation and treated with IV Methylprednisolone, Hydroxychloroquine, and Azithromycin but did not show significant clinical and radiological improvement underwent tracheostomy and is awaiting lung transplantation at 8 months of age. The challenges interpreting the genetic results are discussed.

Vaping associated lung injury: A potentially life-threatening epidemic in US youth.

BACKGROUND: The Center for Disease Control (CDC) has identified a national outbreak in the United States of over 2600 cases of e-cigarette or vaping product use-associated lung injury (EVALI), including 60 deaths as of January 2020. We describe our experience in six adolescents. MATERIAL AND METHODS: We identified all pediatric patients diagnosed with EVALI by CDC guidelines over a 6-month period at our health system. Clinical presentation, hospital course, and imaging were reviewed. RESULTS: Six patients were identified (three males, three females; median age 18.5 years). Presenting symptoms varied, including constitutional, gastrointestinal, neurologic, and respiratory complaints with pulmonary symptomatology becoming the dominant feature of the illness. Three patients required intensive care unit-level care, one of whom expired 36 days after presentation. Three had bronchoalveolar lavage, two with evidence of lipid-laden macrophages. Four had pulmonary function testing with various results. Admission chest radiographs in all revealed bibasilar interstitial infiltrate which rapidly progressed. Five patients had computed tomography chest imaging demonstrating: confluent pulmonary infiltrates with subpleural sparing (n = 2), generalized ground-glass opacities (n = 1), patchy ground-glass opacities (n = 1) and a reticulonodular pattern (n = 1). Brain magnetic resonance imaging (MRI) obtained in two patients was normal in one and showed a focal signal abnormality in the corpus callosum in one. CONCLUSION: We describe the clinical course and radiologic findings of EVALI in our adolescent patients and present a new finding in the brain not yet described in the literature. Given the diversity of presenting symptoms, a high level of suspicion for EVALI is necessary for patients reporting vaping product use regardless of the presence of pulmonary complaints. Brain MRI should be strongly considered in patients with neurologic symptoms.

A comparison of high frequency chest wall oscillation and intrapulmonary percussive ventilation for airway clearance in pediatric patients with tracheostomy.

OBJECTIVES: The aim of this study was to compare two modes of airway clearance, the intrapulmonary percussive ventilation system (IPV) to high frequency chest wall oscillation system (HFCWO) in medically complex pediatric patients with tracheostomy requiring long term care. METHODS: This was a single center, retrospective study comparing the number of respiratory illnesses, lower respiratory tract infections (LRTI), utilization of bronchodilator and systemic steroids, and respiratory illnesses requiring acute care hospitalizations. A total of 8 tracheostomy dependent patients between the ages of 1-22 years were included for a 2-year study period. Each patient was used as their own control. During the period studied, the only variable in the medical regimen was the modality used for airway clearance. A Poisson regression model and generalized estimating equations were used to compare pre and post rates and to account for the correlation of count data from the same individual. Additionally, the paired differences (post-pre) for each event count were computed to provide the median and range of reductions in event rates while using intrapulmonary percussive ventilation system device. The non-parametric wilcoxon signed-rank test employed to determine whether the results from the Poisson model were consistently observed regardless of method of analysis. RESULTS: The total number of respiratory illnesses were reduced from 32 per year on HFCWO therapy to 15 per year on IPV system therapy (p < 0.001). The total number of LRTI requiring antibiotic use were decreased from 15 per year to 6 per year (p = 0.01), use of bronchodilator treatments were reduced from 53 to 21 (p < 0.001) and utilization of systemic steroids were reduced from 12 to 4 on IPV (p = 0.003). Numbers of hospitalizations to acute care facilities were reduced from 8 to 3 hospitalizations during the period of IPV use for airway clearance (p = 0.003). CONCLUSION: This study suggests that airway clearance by IPV therapy could be more effective and beneficial in providing airway clearance in specific subsets of the medically complex pediatric population.

Pro-Con Debate: Protracted Bacterial Bronchitis as a Cause of Chronic Cough in Children.

Pro: Children with chronic cough present a diagnostic challenge. Protracted bacterial bronchitis (PBB) is a chronic, persistent bacterial infection of conducting airways defined by the presence of cough for longer than 4 weeks that resolves with antimicrobial therapy and without an alternative diagnosis. The diagnosis is made by the findings of increased bronchial secretions and edema of the lower airways on flexible bronchoscopy and positive cultures on bronchoalveolar lavage. It is speculated that an initial respiratory insult such as viral infection disrupts normal surface morphology and ciliary function, which leads to chronic self-perpetuating inflammation with the formation of bacterial biofilms, leading to PBB. PBB is often misdiagnosed as asthma, leading to inappropriate and excessive use of steroids. The importance of timely diagnosis should be emphasized due to the potential that PBB may be a precursor to chronic suppurative lung disease or bronchiectasis if left untreated; however, every patient should be adequately assessed to exclude other causes of chronic cough. Con: Clinical criteria for the diagnosis of PBB are nonspecific and may not distinguish it from other known causes of chronic cough, including viral infections. Benefits from antibiotic therapy (particularly prolonged therapy) have not been demonstrated. Respiratory conditions are the most common reason for antibiotic prescriptions during ambulatory visits in the United States, and many of these prescriptions are inappropriate and/or unnecessary. The proposed diagnostic criteria and recommendations for the treatment of PBB will lead to unnecessary overuse of antibiotics.