Abstract
Hereditary surfactant deficiency remains elusive as a definitive diagnosis for full-term newborns presenting with intractable respiratory failure. We present a patient with a novel point mutation resulting in hereditary Surfactant Protein-B (SP-B) deficiency. A term female developed intractable respiratory failure soon after birth and died of respiratory failure at 2 months of age despite aggressive management. Genetic testing for the common mutation for SP-B (121ins2) and ABCA3 gene mutation was negative. Further genetic testing showed a novel mutation in the SP-B gene (c.1032insGCC). Both parents are heterozygous for the same gene mutation, thus confirming an autosomal recessive pattern of inheritance. This mutation has only been seen previously in 2 other infants, also of Indian subcontinent origin. We suggest heightened vigilance and consultation with a reference laboratory in detecting similar mutations in term newborns presenting with unexplained respiratory failure. This will primarily help in the counseling of future pregnancies for the affected families.