title: Congenital pulmonary airway malformation (congenital cystic adenomatoid malformation) with multiple extrapulmonary anomalies: autopsy report of a fetus at 19 weeks of gestation.
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 alpha-fetoprotein level.
authors.affiliation: Department of Pathology, University of California San Diego, School of Medicine, San Diego, 200 West Arbor Drive, San Diego, CA 92103-8720, USA. jeyi@ucsd.edu
authors.forename: Truc T
authors.initials: TT
authors.lastname: Pham
authors.forename: Kurt
authors.initials: K
authors.lastname: Benirschke
authors.forename: Eliezer
authors.initials: E
authors.lastname: Masliah
authors.forename: J Thomas
authors.initials: JT
authors.lastname: Stocker
authors.forename: Eunhee S
authors.initials: ES
authors.lastname: Yi
mesh_terms: D000025:Abortion, Eugenic; D001344:Autopsy; D015615:Cystic Adenomatoid Malformation of Lung, Congenital / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D005260:Female; D005333:Fetus; D006801:Humans; D007150:Immunohistochemistry; D007668:Kidney / Q000002:abnormalities; D008168:Lung / Q000473:pathology; D011247:Pregnancy