Skip to main content
SpringerLink
Log in

Alveolar Capillary Dysplasia in an Infant With Trisomy 21

  • CASE REPORT
  • Published:
Pediatric and Developmental Pathology

Abstract

We present a case of an infant with Down syndrome (trisomy 21) who was affected by alveolar capillary dysplasia and other complications including endocardial cushion defect, hypothyroidism, and intrauterine growth restriction. The patient was the product of a third pregnancy to a 33-year-old woman with no significant risk factors. The child lived for 3 months, during which he developed intractable dyspnea, hypoxemia, and cardiac dysfunction and he eventually died from septicemia and multiorgan failure. In addition to the facial phenotypic features and cardiac anomalies, the autopsy revealed the characteristic microscopic pulmonary findings of alveolar capillary dysplasia with misalignment of pulmonary veins. This appears to be the first reported case of this anomaly associated with trisomy 21. In addition to the many reasons for pulmonary hypertension that occur in children with trisomy 21, alveolar capillary dysplasia may have to be included in the differential diagnosis although it appears to be a rare association.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Figure 1
Figure 2

Similar content being viewed by others

References

  1. Janney CG, Asian FB, Kuhn C. Congenital alveolar capillary dysplasia-an unusual cause of respiratory distress in the newborn. Am J Clin Pathol 1981;76:722–727

    PubMed  CAS  Google Scholar 

  2. Khorsand J, Tennant R, Gillies C, Phillipps AF. Congenital alveolar capillary dysplasia: a developmental vascular anomaly causing persistent pulmonary hypertension of the newborn. Pediatr Pathol 1985;3:299–306

    PubMed  CAS  Google Scholar 

  3. Cater G, Thibeault DW, Beatty EC Jr, Kilbride HW, Huntrakoon M. Misalignment of lung vessels and alveolar capillary dysplasia: a cause of persistent pulmonary hypertension. J Pediatr 1989;114:293–300

    PubMed  CAS  Google Scholar 

  4. Newman B, Yunis E. Primary alveolar capillary dysplasia. Pediatr Radiol 1990;21:20–22

    Article  PubMed  CAS  Google Scholar 

  5. Langston C. Misalignment of pulmonary veins and alveolar capillary dysplasia. Pediatr Pathol 1991;11:163–170

    PubMed  CAS  Google Scholar 

  6. Cullinane C, Cox PN, Silver MM. Persistent pulmonary hypertension of the newborn due to alveolar capillary dysplasia. Pediatr Pathol 1992;12:499–514

    PubMed  CAS  Google Scholar 

  7. Sirkin W, O’Haare BP, Cox PN, Perrin D, Cutz E, Silver MM. Alveolar capillary dysplasia: lung biopsy diagnosis, nitric oxide responsiveness and bronchial generation count. Pediatr Pathol Lab Med 1997;17:125–132

    Article  PubMed  CAS  Google Scholar 

  8. Liet JM, Joubert M, Gournay V, Godon N, Godde F, Nomballais MF, Roze JC. Neonatal hypoxemia due to misaligned pulmonary vessels with alveolar capillary dysplasia. Arch Pediatr 1998;5:27–30

    Article  PubMed  CAS  Google Scholar 

  9. Alameh J, Bachiri A, Devisme L, et al. Alveolar capillary dysplasia: a cause of persistent pulmonary hypertension of the newborn. Eur J Pediatr 2002;161:262–266

    Article  PubMed  CAS  Google Scholar 

  10. Pucci A, Zanini C, Ferrero F, Arisio R, Valori A, Abbruzzese P, Forni M. Misalignment of lung vessels: diagnostic role of conventional histology and immunohistochemistry. Virchows Arch 2003;442:597–600

    PubMed  Google Scholar 

  11. Boggs S, Harris MC, Hoffman DJ, et al. Misalignment of pulmonary veins with alveolar capillary dysplasia: affected siblings and variable phenotypic expression. J Pediatr 1994;124:125–128

    PubMed  CAS  Google Scholar 

  12. Vassal HB, Malone M, Petros AJ, Winter RM. Familial persistent pulmonary hypertension of the newborn resulting from misalignment of the pulmonary vessels (congenital alveolar capillary dysplasia). J Med Genet 1998;36:58–60

    Google Scholar 

  13. Gutierrez C, Rodriguez A, Palenzuela S, Forteza C, Rossello JL. Congenital misalignment of pulmonary veins with alveolar capillary dysplasia causing persistent neonatal pulmonary hypertension: report of two affected siblings. Pediatr Dev Pathol 2000;3:271–276

    Article  PubMed  CAS  Google Scholar 

  14. Cassidy J, Smith J, Goldman A, et al. The incidence and characteristics of neonatal irreversible lung dysplasia. J Pediatr 2002;141:426–428

    Google Scholar 

  15. Tibbals J, Chow CW. Incidence of alveolar capillary dysplasia in severe persistent pulmonary hypertension of the newborn. J Paediatr Child Health 2002;38:397–400

    Google Scholar 

  16. Garola RE, Thibeault DW. Alveolar capillary dysplasia, with and without misalignment of pulmonary veins: an association of congenital anomalies. Am J Perinatol 1998;15:103–107

    Article  PubMed  CAS  Google Scholar 

  17. Lane JR, Siwik E, Preminger T, Stork E, Spector M. Prospective diagnosis of alveolar capillary dysplasia in infants with congenital heart disease. Am J Cardiol 1999;84:618–620

    Article  PubMed  CAS  Google Scholar 

  18. Rabah R, Poulik JM. Congenital alveolar capillary dysplasia with misalignment of pulmonary veins associated with hypoplastic left heart syndrome. Pediatr Dev Pathol 2001;4:167–174

    PubMed  CAS  Google Scholar 

  19. Vick RN, Owens T, Moise KJ, Chescheir N, Bukowski TP. Urethral atresia in a neonate with alveolar capillary dysplasia and pulmonary venous misalignment. Urology 2000;55:774

    Article  PubMed  Google Scholar 

  20. Merchak A, Lueder GT, White FV, Cole FS. Alveolar capillary dysplasia with misalignment of pulmonary veins and anterior segment dysgenesis of the eye: a report of a new association and review of the literature. J Perinatol 2001;21:327–330

    Article  PubMed  CAS  Google Scholar 

  21. Sen P, Thakur N, Stockton DW, Langston C, Bejani BA. Expanding the phenotype of alveolar capillary dysplasia (ACD). J Pediatr 2004;145:646–651

    PubMed  Google Scholar 

  22. McGaughran J, Souter DJ, Kuschel CA. Alveolar capillary dysplasia with antenatal anomalies mimicking trisomy 21. J Paediatr Child Health 2001;37:85–86

    Article  PubMed  CAS  Google Scholar 

  23. Yamaki S, Horiuchi T, Takahashi T. Pulmonary changes in congenital heart disease with Down’s syndrome: their significance as a cause of postoperative respiratory failure. Thorax 1985;40:380–386

    PubMed  CAS  Google Scholar 

  24. Frescura C, Thiene G, Franceschini E, Talenti E, Mazzucco A. Pulmonary vascular disease in infants with complete atrioventricular septal defect. Int J Cardiol 1987;15:91–103

    Article  PubMed  Google Scholar 

  25. Suzuki K, Yamaki S, Mimori S, Murakami Y, Mori K, Takahashi Y, Kikuchi T. Pulmonary vascular disease in Down’s syndrome with complete atrioventricular septal defect. Am J Cardiol 2000;86:434–437

    Article  PubMed  CAS  Google Scholar 

  26. Schloo BL, Vawter GF, Reid LM. Down syndrome: patterns of disturbed lung growth. Hum Pathol 1991;22:919–923

    Article  PubMed  CAS  Google Scholar 

  27. Shah PS, Hellmann J, Adatia I. Clinical characteristics and follow up of Down syndrome infants without congenital heart disease who presented with persistent pulmonary hypertension of the newborn. J Perinat Med 2004;32:168–170

    Article  PubMed  Google Scholar 

  28. Clapp S, Perry BL, Farooki ZQ, et al. Down’s syndrome, complete atrioventricular canal, and pulmonary vascular obstructive disease. J Thorac Cardiovasc Surg 1990;100:115–121

    Google Scholar 

  29. Moran CJ, Tay JB, Morrison JJ. Ultrasound detection and perinatal outcome of fetal trisomies 21, 18 and 13 in the absence of a routine fetal anomaly scan or biochemical screening. Ultrasound Obstet Gynecol 2002;20:482–485

    Article  PubMed  CAS  Google Scholar 

  30. Bahado-Singh RO, Lynch L, Deren O, Morroti R, Copel JA, Mahoney MJ, Williams J III. First-trimester growth restriction and fetal aneuploidy: the effect of type of aneuploidy and gestational age. Am J Obstet Gynecol 1997;176:976–980

    PubMed  CAS  Google Scholar 

  31. Kuhn P, Brizot ML, Pandya PP, Snijders RJ, Nicolaides KH. Crown-rump length in chromosomally abnormal fetuses at 10–13 weeks’ gestation. Am J Obstet Gynecol 1995;172:32–35

    Article  PubMed  CAS  Google Scholar 

  32. Schemmer G, Wapner RJ, Johnson A, Schemmer M, Norton HJ, Anderson WE. First trimester growth patterns of aneuploid fetuses. Prenat Diagn 1997;17:155–159

    Article  PubMed  CAS  Google Scholar 

  33. FitzSimmons J, Droste S, Shepard TH, Pascoe-Mason J, Fantel A. Growth failure in second-trimester fetuses with trisomy 21. Teratology 1990;42:337–345

    Article  PubMed  CAS  Google Scholar 

  34. Lin Z, Wang G, Demello DE, Floros J. An alternatively spliced surfactant protein B mRNA in normal human lung: disease implication. Biochem J 1999;343(pt 1):145–149

    Google Scholar 

  35. Maniscalco WM, Watkins RH, Pryhuber GS, Bhatt A, Shea C, Huyck H. Angiogenic factors and alveolar vasculature: development and alterations by injury in very premature baboons. Am J Physiol Lung Cell Mol Physiol 2002;282:L811–L823

    PubMed  CAS  Google Scholar 

  36. Hislop AA. Airway and blood vessel interaction during lung development. J Anat 2002;201:325–334

    Article  PubMed  Google Scholar 

  37. Kumar VH, Ryan RM. Growth factors in the fetal and neonatal lung. Front Biosci 2004;9:464–480

    PubMed  CAS  Google Scholar 

  38. Han RN, Babaci S, Robb M, et al. Defective lung vascular development and fatal respiratory distress in endothelial NO synthase-deficient mice: a model of alveolar capillary dysplasia? Circ Res 2004;94:1115–1123

    Article  PubMed  CAS  Google Scholar 

  39. Karlsson B, Gustafsson J, Hedov G, Ivarsson SA, Anneren G. Thyroid dysfunction in Down’s syndrome: relation to age and thyroid autoimmunity. Arch Dis Child 1998;79:242–245

    Article  PubMed  CAS  Google Scholar 

  40. Holt J, Canavan JP, Goldspink DF. The influence of thyroid hormones on the growth of the lungs in perinatal rats. Int J Dev Biol 1993;37:467–472

    PubMed  CAS  Google Scholar 

  41. Krude H, Schutz B, Biebermann H, et al. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest 2002;109:475–480

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pathology (Pediatric Pathology), Children's Healthcare of Atlanta at Egleston, Emory University School of Medicine, 1405 Clifton Road, Atlanta, GA, 30322, USA

    Bahig M. Shehata & Carlos R. Abramowsky

Authors
  1. Bahig M. Shehata
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Carlos R. Abramowsky
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Bahig M. Shehata.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Shehata, B.M., Abramowsky, C.R. Alveolar Capillary Dysplasia in an Infant With Trisomy 21. Pediatr Dev Pathol 8, 696–700 (2005). https://doi.org/10.1007/s10024-005-2137-6

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10024-005-2137-6

Keywords

Search

Navigation