E. Sleight et al., NEONATAL RESPIRATORY-DISTRESS IN NEAR-TERM INFANTS - CONSIDER SURFACTANT PROTEIN-B DEFICIENCY, Acta paediatrica, 86(4), 1997, pp. 428-430
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.