Congenital acinar dysplasia. Familial cause of a fatal respiratory failure in a neonate
Al-Senan, K.A.; Kattan, A.K.; Al-Dayel, F.H.
Saudi Medical Journal 24(1): 88-90
2003
ISSN/ISBN: 0379-5284 PMID: 12590284 Document Number: 560967
Pulmonary hypoplasia is a rare cause of pulmonary insufficiency, and has a significant rate of morbidity and mortality among affected infants. In most cases, pulmonary hypoplasia is secondary to underlying abnormalities. These may include space occupying lesions, as in infants with congenital diaphragmatic hernia; malformation of chest wall resulting in a small thoracic cavity; severe and prolonged oligohydramnios; and neuromuscular disorders, which prevent normal fetal chest expansion. All lead to poor lung development. Primary pulmonary hypoplasia as a result of congenital acinar dysplasia is exceedingly rare and is diagnosed by exclusion of all known etiologies of secondary pulmonary hypoplasia.