Pediatric Radiology

, Volume 35, Issue 3, pp 311–316

Primary alveolar capillary dysplasia (acinar dysplasia) and surfactant protein B deficiency: a clinical, radiological and pathological study

  • Claes O. Hugosson
  • Husam M. Salama
  • Fouad Al-Dayel
  • Nuha Khoumais
  • Abdul H. Kattan
Original Article

Abstract

Background: Full-term infants with severe and prolonged respiratory distress represent a diagnostic challenge. Plain radiographic findings may be nonspecific or similar to classic surfactant deficiency disease for infants with surfactant protein B deficiency and acinar dysplasia. Objectives: To describe the similar clinical-radiolgical patterns of two rare neonatal conditions. Materials and methods: Six newborn babies with severe respiratory distress at birth demonstrated clinical and radiographically prolonged and progressive diffuse pulmonary opacification. Results: All infants demonstrated hyperinflation of the lungs. The diffuse hazy opacification, which varied from mild (n=3) to moderate (n=3), progressed to severe diffuse opacification preceding death, which occurred at 12–36 days of life. Open lung biopsy confirmed the diagnosis of primary alveolar acinar dysplasia (AD) in four infants and surfactant protein B deficiency (SPBD) in two infants. Conclusions: In full-term babies with unexplained progressive respiratory distress from birth and progress of radiological changes, both AD and SPBD should be considered.

Keywords

Lungs Acinar dysplasia Surfactant protein B deficiency Respiratory distress Neonates 

References

  1. 1.
    Reid L (1977) The lung: its growth and remodelling in health and disease. AJR 129:777–788PubMedGoogle Scholar
  2. 2.
    Newman B, Yunis E (1990) Primary alveolar capillary dysplasia. Pediatr Radiol 21:20–22PubMedGoogle Scholar
  3. 3.
    Norgee LM, deMello DE, Dehner LP, et al (1993) Deficiency of pulmonary surfactant protein B in congenital alveolar proteinosis. N Engl J Med 328:406–410CrossRefPubMedGoogle Scholar
  4. 4.
    Moulton SL, Krous HF, Merritt TA, et al (1992) Congenital pulmonary alveolar proteinosis: failure of treatment with extra-corporeal life support. J Pediatr 120:297–302PubMedGoogle Scholar
  5. 5.
    deMello DE, Norgee LM, Heyman S, et al (1994) Molecular and phenotypic variability in the congenital alveolar proteinosis syndrome associated with inherited surfactant protein B deficiency. J Pediatr 125:43–50PubMedGoogle Scholar
  6. 6.
    Janney CG, Askin FB, Kuhn C III (1981) Congenital alveolar capillary dysplasia—an unusual cause of respiratory distress in the newborn. Am J Clin Pathol 76:722–727PubMedGoogle Scholar
  7. 7.
    Rutledge JC, Jensen P (1986) Acinar dysplasia: a new form of pulmonary maldevelopment. Hum Pathol 17:1290–1293PubMedGoogle Scholar
  8. 8.
    Newman B, Kuhn JP, Kramer SS, et al (2001) Congenital surfactant protein B deficiency—emphasis on imaging. Pediatr Radiol 31:327–331CrossRefPubMedGoogle Scholar
  9. 9.
    Hawgood S (2004) Surfactant protein B: structure and function. Biol Neonate 85:285–289CrossRefPubMedGoogle Scholar
  10. 10.
    Krol S, Ross M, Sieber M, et al (2000) Formation of three-dimensional protein-lipid aggregates in monolayer films induced by surfactant protein. Biophys J 79:904–918PubMedGoogle Scholar
  11. 11.
    Wallot M, Wagenvoort C, deMello D, et al (1999) Congenital alveolar proteinosis caused by a novel mutation of the surfactant protein B gene and misalignment of lung vessels in consanguineous kindred infants. Eur J Pediatr 158:513–518Google Scholar
  12. 12.
    Boggs S, Harris M, Hoffman D, et al (1994) Misalignment of pulmonary veins with alveolar capillary dysplasia: affected siblings and variable phenotypic expression. J Pediatr 124:125–128PubMedGoogle Scholar
  13. 13.
    Moerman P, Vanhole C, Devlieger H, et al (1998) Severe primary pulmonary hypoplasia (“acinar dysplasia”) in sibs: a genetically determined mesodermal defect? J Med Genet 35:964–996PubMedGoogle Scholar
  14. 14.
    Al Senan KA, Kattan AK, AlDayel FH (2003) Congenital acinar dysplasia: familial cause of a fatal respiratory failure in a neonate. Saudi Med J 24:88–90PubMedGoogle Scholar
  15. 15.
    Newman B (1999) Imaging of medical disease of the newborn lung. Radiol Clin North Am 37:1049–1065PubMedGoogle Scholar
  16. 16.
    Herman TE, Nogee LM, McAlister WH, et al (1993) Surfactant protein B deficiency: radiographic manifestations. Pediatr Radiol 23:373–375PubMedGoogle Scholar
  17. 17.
    Schumacher RE, Marrogi AJ, Heidelberger KP (1989) Pulmonary alveolar proteinosis in a newborn. Pediatr Pulmonol 7:178–182PubMedGoogle Scholar
  18. 18.
    Tredano M, Griese M, de Blic J, et al (2003) Analysis of 40 sporadic of familial neonatal and pediatric cases with severe unexplained respiratory distress: relationship to SFTPB. Am J Med Genet 119A:324–339Google Scholar
  19. 19.
    Hamvas A, Cole FS, deMello DE (1994) Surfactant protein-B deficiency: antenatal diagnosis and prospective treatment with surfactant replacement. J Pediatr 125:356–361PubMedGoogle Scholar
  20. 20.
    Spock A (1993) Treatment of congenital alveolar proteinosis. J Pediatr 123:495PubMedGoogle Scholar
  21. 21.
    Coleman M, Dehner LP, Sibley RK, et al (1980) Pulmonary alveolar proteinosis: an uncommon cause of chronic neonatal respiratory distress. Am Rev Respir Dis 121:583–586PubMedGoogle Scholar
  22. 22.
    Chetcuti PAJ, Ball RJ (1995) Surfactant apoprotein B deficiency. Arch Dis Child 73:125–127Google Scholar

Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Claes O. Hugosson
    • 1
    • 4
  • Husam M. Salama
    • 2
  • Fouad Al-Dayel
    • 3
  • Nuha Khoumais
    • 1
  • Abdul H. Kattan
    • 2
  1. 1.Department of Radiology MBC#28King Faisal Specialist Hospital and Research CentreRiyadhSaudi Arabia
  2. 2.Department of PaediatricsKing Faisal Specialist Hospital and Research CentreRiyadhSaudi Arabia
  3. 3.Department of PathologyKing Faisal Specialist Hospital and Research CentreRiyadhSaudi Arabia
  4. 4.LidingöSweden

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