Congenital Surfactant C Deficiency with Pulmonary Hypertension—A Case Report

Abstract

Interstitial lung diseases in children are a diverse group in terms of etiology and pathogenesis. With advances in genetic testing, mutations in surfactant protein have now been identified as the etiology for childhood interstitial lung disease of variable onset and severity, ranging from fatal acute respiratory distress syndrome (RDS) in neonates to chronic lung disease in adults. We presented an 11-month-old girl with surfactant protein C deficiency and secondary pulmonary hypertension, successfully treated with hydroxychloroquine, and provided a detailed discussion of the clinical and diagnostic approach and management.

Keywords

• pediatric
• childhood interstitial lung disease
• diffuse lung disease
• genetic testing
• hydroxychloroquine
• pulmonary hypertension