Download PDF
AJP Rep 2016; 06(02): e246-e249
DOI: 10.1055/s-0036-1584530
Case Report
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Bilateral Pulmonary Agenesis: A Rare and Unexpected Finding in a Newborn

Lananh N. Nguyen
1   Department of Pathology, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire
,
W. Tony Parks
2   Departments of Pathology and Obstetrics, Gynecology and Reproductive Sciences, Magee Women's Hospital, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania
› Author Affiliations
Further Information

Publication History

29 March 2016

06 May 2016

Publication Date:
29 June 2016 (online)

Also available at
   Permissions and Reprints

Abstract

Background Bilateral pulmonary agenesis is a rare congenital anomaly incompatible with life that can be missed on routine prenatal screening. Prenatal ultrasound diagnosis of this fatal anomaly can aid in prenatal counseling and postdelivery care.

Case Study We report the case of a newborn who was born prematurely at 29 weeks gestation and underwent several unsuccessful intubation attempts immediately after delivery.

Conclusion Autopsy examination revealed bilateral pulmonary agenesis with a short, blindly ending trachea.

Keywords

bilateral pulmonary agenesis - lung anomaly - developmental anomaly
 

  • References

  • 1 Graff GR, Beckerman RC. Radiological case of the month. Pulmonary aplasia. Arch Pediatr Adolesc Med 1997; 151 (7) 737-738
    CrossrefPubMedSearch in Google Scholar
  • 2 Sadler TW. Medical Embryology. 13th ed. Philadelphia, PA: Wolters Kluwer Health; 2015: 218-224
    Search in Google Scholar
  • 3 Spear GS, Yetur P, Beyerlein RA. Bilateral pulmonary agenesis and microphthalmia. Am J Med Genet Suppl 1987; 3: 379-382
    PubMedSearch in Google Scholar
  • 4 Berkenstadt M, Lev D, Achiron R, Rosner M, Barkai G. Pulmonary agenesis, microphthalmia, and diaphragmatic defect (PMD): new syndrome or association?. Am J Med Genet 1999; 86 (1) 6-8
    CrossrefPubMedSearch in Google Scholar
  • 5 Chitayat D, Sroka H, Keating S , et al. The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance. Am J Med Genet A 2007; 143A (12) 1268-1281
    CrossrefPubMedSearch in Google Scholar
  • 6 Ostör AG, Stillwell R, Fortune DW. Bilateral pulmonary agenesis. Pathology 1978; 10 (3) 243-248
    CrossrefPubMedSearch in Google Scholar
  • 7 Golzio C, Martinovic-Bouriel J, Thomas S , et al. Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. Am J Hum Genet 2007; 80 (6) 1179-1187
    CrossrefPubMedSearch in Google Scholar
  • 8 Veluppillai C, Jossic F, Quéré MP, Philippe HJ, Le Vaillant C. Rare case of bilateral pulmonary agenesis and prenatal diagnosis [in French]. Gynecol Obstet Fertil 2014; 42 (7–8) 533-536
    CrossrefPubMedSearch in Google Scholar
  • 9 Lee KA, Cho JY, Lee SM, Jun JK, Kang J, Seo JW. Prenatal diagnosis of bilateral pulmonary agenesis: a case report. Korean J Radiol 2010; 11 (1) 119-122
    CrossrefPubMedSearch in Google Scholar
  • 10 Ramanah R, Martin A, Guigue V , et al. Recurrent prenatally diagnosed isolated bilateral pulmonary agenesis. Ultrasound Obstet Gynecol 2012; 40 (6) 724-725
    CrossrefPubMedSearch in Google Scholar
  • 11 Vettraino IM, Tawil A, Comstock CH. Bilateral pulmonary agenesis: prenatal sonographic appearance simulates diaphragmatic hernia. J Ultrasound Med 2003; 22 (7) 723-726
    CrossrefPubMedSearch in Google Scholar