Recurrent familial neonatal deaths: Hereditary surfactant protein B deficiency

Hereditary surfactant protein B (SP-B) deficiency is an uncommon autosomal recessive lung disorder that causes hypoxemic respiratory failure in mature , morphologically normal infants. Recognition and diagnosis of this conditi on is of paramount importance, as it has significant implications for futur e pregnancies with a recurrence risk of 25%. in a family with three neonata l deaths over 20 years, SP-B deficiency was diagnosed following the death o f the fourth affected infant. Previous deaths were mistaken ty attributed t o hyaline membrane disease (HMD), congenital Mycoplasma hominis infection, and pulmonary hypertension, however, following the diagnosis in the proposi ta, SP-B deficiency was also confirmed in her deceased siblings by immunohi stochemical staining of autopsy specimens. This case highlights the present ation, postnatal course, diagnosis, and therapeutic options of SP-B deficie ncy in addition to the mode of inheritance and the possibility of antenatal diagnosis. Genetic consultation is imperative in the investigations of rec urrent neonatal deaths, especially in cases of remote events. The recent en ormous advances in human genetics have shown that many conditions previousl y ascribed to environmental agents have a genetic basis.