A child is diagnosed with severe alpha-1 antitrypsin (α1-AT) deficiency with a PiZZ phenotype. The parents ask about the underlying genetic problem. What is the primary pathophysiologic mechanism leading to the characteristically low serum levels of α1-AT in this condition?
A 16-year-old with a severe sore throat, odynophagia, and trismus is admitted for inpatient management of a peritonsillar abscess. In addition to surgical drainage, what is an appropriate empiric intravenous antibiotic therapy for this patient?
An 8-year-old is diagnosed with acute bacterial sinusitis based on persistent purulent nasal discharge and daytime cough for 12 days. Initial treatment with amoxicillin is prescribed. After 72 hours, the child’s symptoms have worsened, with increasing facial pain and a new fever of 39.2°C (102.6°F). What is the most appropriate next step in management?
A full-term neonate develops severe respiratory distress shortly after birth, requiring mechanical ventilation. A chest CT scan reveals diffuse ground-glass opacities with septal thickening. A subsequent lung biopsy shows findings of alveolar proteinosis and disorganized lamellar bodies on electron microscopy. A pathogenic variant in which of the following genes is the most likely cause of this severe presentation?
A 14-year-old who underwent a lung transplant two years ago presents with a progressive decline in forced expiratory volume in 1 second (FEV1). After other causes are excluded, a diagnosis of bronchiolitis obliterans syndrome (BOS) is made. Which combination therapy has shown potential to halt the pulmonary progression of BOS?
A 20-month-old boy presents with a 1-day history of a barking cough and inspiratory stridor. He has a low-grade fever and coryza. What is the most common viral etiology for this presentation of croup?
A 4-year-old child with large tonsils is being evaluated for adenotonsillectomy due to symptoms of sleep-disordered breathing. Which of the following co-morbidities would classify this child as “high-risk,” warranting consideration for a preoperative polysomnogram and more intensive postoperative monitoring?
An 8-year-old girl is being evaluated for an insidious onset of shortness of breath. Her physical exam and baseline pulmonary function tests are largely unremarkable. Her physician suspects an early-stage fibrotic lung disease. Which test is most likely to reveal the earliest sign of this disease process?
A 10-year-old child is found to have a classic “sandstorm” appearance of fine, diffuse, micronodular calcifications on a routine chest radiograph, though she is largely asymptomatic. The diagnosis of pulmonary alveolar microlithiasis (PAM) is confirmed. This rare autosomal recessive disorder is caused by a pathogenic variant in which gene?
The parents of a newborn infant ask about prevention of severe respiratory syncytial virus (RSV) infection during the upcoming winter season. The infant is healthy and was born at term. What is the currently recommended approach for this infant?
