A male born at term after an uncomplicated pregnancy, labor and delivery develops severe respiratory distress within a few hours of bih. Results of routine culture were negative. The chest roengogram reveals a normal hea shadow and fine reticulonodular infiltrates radiating from the hilum. ECHO findings reveal no abnormality. Family history reveals similar clinical course and death of a male and female sibling at 1 month and 2 months of age respectively. The most likely diagnosis is:
Answer is.A (Neonatal Alveolar Proteinosis): The child in question is presenting with characteristic features of Neonatal Pulmonary Alveolar Proteinosis (PAP). Familial cases of Neonatal Pulmonary Alveolar Proteinosis have been observed and a genetic basis has been suggested. None of the other options have a familial basis and hence neonatal PAP is the single best answer of choice. TAPVC is unlikely as ECHO is unremarkable and TAPVC does not have a familial basis. Meconium aspiration syndrome is unlikely as it does not have a familial basis and the question provides no other clinical clues to suggest meconium aspiration such as meconium staining Congenital Herpes infection has an entirely different mode of presentation and can he safely excluded. Pulmonary Alveolar Proteinosis (PAP) PAP is a disorder characterized by the intra-alveolar accumulation of pulmonary surfactant proteins Etiology Defect in surfactant proteins (SP) (SP -B & SP -C) Defect in colony stimulating factor receptor (GM -CSF) gene Defect in ATP - binding cassette transpoer Gene (ABCA3 It may present in neonates (Neonatal PAP) and in older infants, children and adults Neonatal (Congenital PAP) This has a fulminant course and is often fatal PAP in older children and Adults (Adult PAP) This has a gradually progressive course (Note that the neonatal and adult forms are distinct entities and have different etiologies and manifestations) Familial cases have been observed and a genetic basis (Autosomal recessive) has been suggested for neonatal congenital PAP. No Gender difference in frequency has been observed. Neonatal PAP presents with severe respiratory distress in the neonatal period. Radiological features resemble those of hyaline membrane disease and may show fine reticulonodular infiltrates radiating from the hilum. It has a fulminant course and leads to death from rapidly developing respiratory failure.
Neonatal Alveolar Proteinosis
Total Anomalous Pulmonary Venous Circulation (TAPVC)
Meconium Aspiration Syndrome
Diffuse Herpes simplex infection