Pulmonary Surfactant Protein B Deficiency: A Case Report

Abstract

The first reported case of pulmonary alveolar proteinosis (PAP) was documented in 1958. Since then, more cases have become evident of this unusual disease. PAP is a disease characterized by positive periodic acid-Schiff, diastase-resistant granular eosinophilic material within the alveoli. Individuals with PAP have impaired gas exchange and progressive hypoxemia. In congenital PAP, newborn infants show severe and progressive pulmonary failure at birth which leads to death. In one family, a male sibling was born with severe respiratory distress syndrome and diagnosed with congenital alveolar proteinosis (CAP) by open lung biopsy. His female sibling died at one month of age nineteen years earlier with severe respiratory disease. Her autopsy slides were consistent with CAP. This case sibling followed the same clinical course as his brother and sister diagnosed with CAP by family history. Surfactant protein 'B' deficiency was identified as the cause of the congenital alveolar proteinosis. Aggressive therapy was initiated in the case sibling with exogenous surfactant replacements, extracorporeal membrane oxygenation (ECMO) as a bridge to transplant, lung lavage, and maximum ventilator settings via conventional mechanical ventilation. The child died on ECMO day 29 after 696 hours of support.