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 language | English (US) |
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Pages (from-to) | 661-666 |
Number of pages | 6 |
Journal | Pediatric and Developmental Pathology |
Volume | 7 |
Issue number | 6 |
DOIs | |
State | Published - Dec 2004 |
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