title: Neonatal respiratory distress in near-term infants--consider surfactant protein B deficiency.
abstract: Two infants presenting with respiratory distress in the first 24 h of life are described. Both patients underwent extensive investigation before the diagnosis of surfactant protein B-deficiency was reached. Both children died within 2 months of birth. Parental consanguinity was known to be a feature in the first case, who proved to have a previously unrecognized mutation of the surfactant protein B gene. In the second case, a history of parental consanguinity was not sought from the Caucasian family, but was later volunteered by the parents themselves. Case 2 proved to have the "common" surfactant protein B-deficient genotype. 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, inexpensive procedure which is well tolerated in newborns.
authors.affiliation: North Trent Regional Neonatal Unit, The Jessop Hospital for Women, Sheffield, UK.
authors.forename: E
authors.initials: E
authors.lastname: Sleight
authors.forename: R C
authors.initials: RC
authors.lastname: Coombs
authors.forename: A T
authors.initials: AT
authors.lastname: Gibson
authors.forename: R A
authors.initials: RA
authors.lastname: Primhak
mesh_terms: D001992:Bronchoalveolar Lavage Fluid / Q000737:chemistry; D003241:Consanguinity; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000473:pathology / Q000503:physiopathology; D008297:Male; D011510:Proteolipids / Q000032:analysis*; D011663:Pulmonary Surfactants / Q000172:deficiency* / Q000235:genetics; D012127:Respiratory Distress Syndrome, Newborn / Q000209:etiology* / Q000235:genetics
chemical_list: D011510:Proteolipids; D011663:Pulmonary Surfactants