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 condition is of paramount importance, as it has significant implications for future pregnancies with a recurrence risk of 25%. In a family with three neonatal deaths over 20 years, SP-B deficiency was diagnosed following the death of the fourth affected infant. Previous deaths were mistakenly attributed to hyaline membrane disease (HMD), congenital Mycoplasma hominis infection, and pulmonary hypertension, however, following the diagnosis in the proposita, SP-B deficiency was also confirmed in her deceased siblings by immunohistochemical staining of autopsy specimens. This case highlights the presentation, postnatal course, diagnosis, and therapeutic options of SP-B deficiency in addition to the mode of inheritance and the possibility of antenatal diagnosis. Genetic consultation is imperative in the investigations of recurrent neonatal deaths, especially in cases of remote events. The recent enormous advances in human genetics have shown that many conditions previously ascribed to environmental agents have a genetic basis.
Andersen
C
C
Department of Pediatrics, Hamilton Health Sciences Corporation and McMaster University, Ontario, Canada.
Ramsay
J A
JA
Nogee
L M
LM
Shah
J
J
Wert
S E
SE
Paes
B
B
Nowaczyk
M J
MJ
D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D011510:Proteolipids; D011663:Pulmonary Surfactants / Q000172:deficiency*; D012131:Respiratory Insufficiency / Q000209:etiology / Q000235:genetics*
D011510:Proteolipids; D011663:Pulmonary Surfactants