NEONATAL RESPIRATORY-DISTRESS IN NEAR-TERM INFANTS - CONSIDER SURFACTANT PROTEIN-B DEFICIENCY

Two infants presenting with respiratory distress in the first 24 h of life are described. Bath patients underwent extensive investigation be fore the diagnosis of surfactant protein B-deficiency was reached. Bot h children died within 2 months of birth. Parental consanguinity was k nown to be a feature in the first case, who proved to have a previousl y unrecognized mutation of the surfactant protein B gene, In the secon d case, a history of parental consanguinity was not sought from the Ca ucasian family, but was later volunteered by the parents themselves. C ase 2 proved to have the ''common'' surfactant protein B-deficient gen otype. The key to diagnosis is having a high index of suspicion in any term or near-term newborn with severe respiratory distress: parental consanguinity must be excluded. Surfactant protein B-deficiency can be readily diagnosed from bronchoalveolar lavage specimens; a simple, in expensive procedure which is well tolerated in newborns.