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Pediatric and Developmental Pathology

, Volume 7, Issue 6, pp 661–666 | Cite as

Congenital Pulmonary Airway Malformation (Congenital Cystic Adenomatoid Malformation) with Multiple Extrapulmonary Anomalies: Autopsy Report of a Fetus at 19 Weeks of Gestation

  • Truc T. Pham
  • Kurt Benirschke
  • Eliezer Masliah
  • J. Thomas Stocker
  • Eunhee S. YiEmail author
Case report

Abstract

Congenital pulmonary airway malformation, or congenital cystic adenomatoid malformation, is postulated to be a disorder of pulmonary airway morphogenesis and encompasses 5 different types with distinct levels or stages of tracheobronchial development. We present a unique case of type 2 congenital pulmonary airway malformation with a previously undocumented combination of multiple extrapulmonary anomalies, featuring ipsilateral multicystic renal dysgenesis, contralateral renal agenesis, and ovarian germ cell hypoplasia, diagnosed in a 19-week gestational age fetus by autopsy. Epithelial cells comprising the pulmonary lesions were positive for thyroid transcription factor-1, surfactant protein-B, and cytokeratin-7 but negative for cytokeratin-20 immunostainings, with the pattern seen in normal terminal bronchioles. Chromosomal analysis showed a normal female karyotype, despite a high estimated risk for Down syndrome suggested by the low maternal serum α-fetoprotein level.

Keywords

congenital pulmonary airway malformation congenital cystic adenomatoid malformation thyroid transcription factor-1 surfactant cytokeratin-7 cytokeratin-20 renal agenesis and dysgenesis α-fetoprotein 

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Copyright information

© Springer Science+Business Media, Inc. 2004

Authors and Affiliations

  • Truc T. Pham
    • 1
  • Kurt Benirschke
    • 1
  • Eliezer Masliah
    • 1
  • J. Thomas Stocker
    • 2
  • Eunhee S. Yi
    • 1
    Email author
  1. 1.Department of PathologyUniversity of California San Diego, School of MedicineSan DiegoUSA
  2. 2.Department of PathologyUniformed Services University of the Health SciencesBethesdaUSA

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