Pulmonary Alveolar Proteinosis: An Uncommon Cause of Chronic Neonatal Respiratory Distress^1,2

Abstract

A full-term newborn infant had the onset of respiratory distress immediately after birth. She required supplemental oxygen from birth, and had pulmonary alveolar proteinosis (PAP) documented by open lung biopsies at 6 and at 12 weeks of age. Light and electron microscopy showed dense, PAS-positive granular, homogeneous material within the alveolar spaces, diagnostic of PAP. No Pneumocystic carinii organisms were demonstrated on silver staining, and bacterial and viral cultures were negative. The infant died of progressive respiratory insufficiency at 1 yr or age. Pulmonary alveolar proteinosis should considered a rare cause of chronic respiratory distress in the newborn infant.

Pulmonary Alveolar Proteinosis and tuberculosis in a diabetic patient: a rare or a seldom diagnosed association

“…Almost 80% of the patients are between 20 and 50 years old, although it has also been described in newborns [33,34], school age children [35,36], and in the elderly [37]. The main symptom is exertion dyspnea.…”

A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds.

“…A deficiency of surfactant protein B (SP-B), ' an 8,000-D lungspecific protein, was recently demonstrated in three full-term siblings who died from respiratory failure associated with histopathologic changes of alveolar proteinosis (2). SP-B has an important role in the surface tension-lowering properties of pulmonary surfactant, and congenital alveolar proteinosis (CAP) is a recognized familial cause offatal respiratory disease in full-term infants (3)(4)(5)(6). These observations suggest that an inherited deficiency of SP-B may cause this disorder and that abnormalities of surfactant proteins due to genetic mechanisms could cause respiratory disease.…”

Pathophysiology and Treatment of Surfactant Protein-B Deficiency

“…Most cases are idiopath ic [3][4][5][6][7][8], In infancy, alveolar proteinosis was first reported in 6 of 13 infants who died under 1 year of age with thymic alymphoplasia [9], Alveolar proteinosis developed during the first 3-6 months of life and was most like ly caused in this population by opportunistic infectious agents. A genetic basis for the con genital form of alveolar proteinosis was sug gested by several investigators who noted its occurrence in multiple siblings within several affected families [10][11][12][13][14], The clinical pheno type in these infants was consistent: the dis ease occurred in full-term infants who devel oped severe, persistent, and progressive respi ratory distress which prompted tracheal intu bation and mechanical ventilation within the first 24-48 h of life. Death usually occurred within months of birth.…”