Am J Perinatol 2000; Volume 17(Number 04): 219-224
DOI: 10.1055/s-2000-9418
Copyright © 2000 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA. Tel.: +1(212) 584-4662

RECURRENT FAMILIAL NEONATAL DEATHS: HEREDITARY SURFACTANT PROTEIN B DEFICIENCY

Chad Andersen1 , Jennifer A. Ramsay2 , Lawrence M. Nogee3 , Jay Shah1 , Susan E. Wert4 , Bosco Paes1 , Malgorzata J.M. Nowaczyk1,2
  • Department of
  • 1Pediatrics, Hamilton Health Sciences Corporation and McMaster University, Hamilton, Ontario, Canada
  • 2Department of Pathology and Molecular Medicine, Hamilton Health Sciences Corporation and McMaster University, Hamilton, Ontario, Canada
  • 3Division of Neonatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland
  • 4Division of Pulmonary Biology, Children's Hospital Medical Center, Cincinnati, Ohio
Further Information

Publication History

Publication Date:
31 December 2000 (online)

ABSTRACT

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.

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