Resident Physician Western Michigan University Homer Stryker M.D. School of Medicine Kalamazoo, Michigan, United States
Background: Surfactant protein C (SP-C) has a crucial role in alveolar stability and possibly in the intracellular processing of the surfactant complex. SP-C dysfunction due to SFPTC gene mutation can have variable presentations, including interstitial lung disease, and has unknown incidence. Objective: We present the case of an infant with abdominal distention and rapidly progressive respiratory failure who was diagnosed with SP-C dysfunction. Design/Methods: This is a single case report. Results: A three-week-old male infant who was born at term without birth complications presented with a four-day history of increased work of breathing, abdominal distension, and one episode of emesis. On physical exam, he was mildly tachypneic with clear lung sounds bilaterally and had a distended but soft, non-tender abdomen. Abdominal x-ray showed uniform distribution of bowel gas. The multi-plex respiratory viral panel was negative. Oxygen saturation decreased to 70%, so he was placed on 0.5 liters/minute supplemental oxygen via nasal cannula and admitted. Eventually, he developed increasing oxygen requirement and feeding intolerance. He was started on nasogastric (NG) tube feeds; formula changes did not improve post-prandial emesis or abdominal distension. A significant volume of air was regularly aspirated from his NG tube pre-feeds. Upper gastrointestinal tract radiography with esophagram showed only mild gastroesophageal reflux. Brain magnetic resonance imaging showed prominence of the extra-axial spaces over the anterior left temporal pole of unknown significance. Rigid bronchoscopy showed mildly edematous vocal cords. Echocardiogram resulted normal. Respiratory distress worsened and did not improve with scheduled albuterol, ipratropium, and budesonide. Chest computed tomography showed diffuse bilateral ground glass opacities. He was transferred to the intensive care unit due to acute respiratory failure. Rapid whole genome sequencing showed a de novo mutation in the SFTPC gene; c.363C>G (p.Cys121Trp), with a preliminary report generated in 48 hours. By the time the final genetic report was obtained, he was intubated and subsequently referred for lung transplantation.
Conclusion(s): This case highlights a unique presentation of SP-C dysfunction with rapid progression of respiratory failure, with the patient requiring consideration for lung transplantation at 6 weeks of age. It highlights the importance of exploring non-gastrointestinal causes of unrelenting abdominal distension.
