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. Yi

Research output: Contribution to journalArticle

10 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)661-666
Number of pages6
JournalPediatric and Developmental Pathology
Volume7
Issue number6
DOIs
StatePublished - Dec 1 2004

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Keywords

  • Congenital cystic adenomatoid malformation
  • Congenital pulmonary airway malformation
  • Cytokeratin-20
  • Cytokeratin-7
  • Renal agenesis and dysgenesis
  • Surfactant
  • Thyroid transcription factor-1
  • α-fetoprotein

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine

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