# A Case Report of Pulmonary Alveolar Proteinosis Masquerading as Respiratory Distress Syndrome in Preterm Neonates

## TL;DR

A preterm baby showed signs of respiratory distress syndrome but was later found to have a rare condition called pulmonary alveolar proteinosis, which is hard to diagnose and treat.

## Contribution

This case highlights the diagnostic challenge of PAP in neonates and its resemblance to RDS.

## Key findings

- The neonate's condition was misdiagnosed as RDS but was later confirmed as PAP via postmortem lung biopsy.
- PAP is caused by abnormal surfactant protein and lipid accumulation in the alveoli, impairing gas exchange.
- Treatment options for neonatal PAP are limited, with whole-lung lavage showing limited success.

## Abstract

A rare and challenging case of a preterm neonate with clinical and radiological signs of respiratory distress syndrome (RDS) since the first hour of life but was refractory to its standard treatment regimes like surfactant therapy and ventilation. Postmortem lung biopsy led us to the diagnosis of congenital pulmonary alveolar proteinosis (PAP). It occurs due to the aggregation of abnormal surfactant proteins and lipids in the alveoli, which hampers gas diffusion across the alveoli. It presents as respiratory distress at birth, and its diagnosis is often missed due to its resemblance with RDS. Although the exact etiology remains elusive, mutations in genes encoding surfactant and granulocyte-macrophage colony-stimulating factor (GM-CSF) pathway components have been implicated in the pathogenesis of PAP. Treatment options are limited and only supportive. Among all these, whole-lung lavage is the most widely used management modality but with limited success in neonates.