AIMS: To describe a third case of congenital pulmonary acinar dysplasia, comparing its clinicopathological features with those of the two previous cases and with cystic adenomatoid malformations. METHODS AND RESULTS: An externally normal female infant was born to a 25-year-old after a normal pregnancy. Ventilation was not established. At autopsy the hypoplastic lungs showed bronchial development but no acinar development, resembling the pseudoglandular phase of 16 weeks gestation. As in the previous cases the infant was female, born at term with unaffected older sibling(s): however, no intrapulmonary haematopoietic tissue was identified in the present case. Cystic adenomatoid malformations also resemble microscopically the pseudoglandular phase but are focal pulmonary hyperplasias rather than generalized pulmonary hypoplasias. CONCLUSION: Congenital acinar dysplasia is a rare, apparently sporadic lethal developmental defect resulting in pulmonary hypoplasia due to failure of lung development beyond the pseudoglandular phase seen at 16 weeks gestation.
AIMS: To describe a third case of congenital pulmonary acinar dysplasia, comparing its clinicopathological features with those of the two previous cases and with cystic adenomatoid malformations. METHODS AND RESULTS: An externally normal female infant was born to a 25-year-old after a normal pregnancy. Ventilation was not established. At autopsy the hypoplastic lungs showed bronchial development but no acinar development, resembling the pseudoglandular phase of 16 weeks gestation. As in the previous cases the infant was female, born at term with unaffected older sibling(s): however, no intrapulmonary haematopoietic tissue was identified in the present case. Cystic adenomatoid malformations also resemble microscopically the pseudoglandular phase but are focal pulmonary hyperplasias rather than generalized pulmonary hypoplasias. CONCLUSION:Congenital acinar dysplasia is a rare, apparently sporadic lethal developmental defect resulting in pulmonary hypoplasia due to failure of lung development beyond the pseudoglandular phase seen at 16 weeks gestation.
Authors: Marie Vincent; Justyna A Karolak; Gail Deutsch; Tomasz Gambin; Edwina Popek; Bertrand Isidor; Przemyslaw Szafranski; Cedric Le Caignec; Paweł Stankiewicz Journal: Am J Respir Crit Care Med Date: 2019-11-01 Impact factor: 21.405
Authors: Justyna A Karolak; Marie Vincent; Gail Deutsch; Tomasz Gambin; Benjamin Cogné; Olivier Pichon; Francesco Vetrini; Heather C Mefford; Jennifer N Dines; Katie Golden-Grant; Katrina Dipple; Amanda S Freed; Kathleen A Leppig; Megan Dishop; David Mowat; Bruce Bennetts; Andrew J Gifford; Martin A Weber; Anna F Lee; Cornelius F Boerkoel; Tina M Bartell; Catherine Ward-Melver; Thomas Besnard; Florence Petit; Iben Bache; Zeynep Tümer; Marie Denis-Musquer; Madeleine Joubert; Jelena Martinovic; Claire Bénéteau; Arnaud Molin; Dominique Carles; Gwenaelle André; Eric Bieth; Nicolas Chassaing; Louise Devisme; Lara Chalabreysse; Laurent Pasquier; Véronique Secq; Massimiliano Don; Maria Orsaria; Chantal Missirian; Jérémie Mortreux; Damien Sanlaville; Linda Pons; Sébastien Küry; Stéphane Bézieau; Jean-Michel Liet; Nicolas Joram; Tiphaine Bihouée; Daryl A Scott; Chester W Brown; Fernando Scaglia; Anne Chun-Hui Tsai; Dorothy K Grange; John A Phillips; Jean P Pfotenhauer; Shalini N Jhangiani; Claudia G Gonzaga-Jauregui; Wendy K Chung; Galen M Schauer; Mark H Lipson; Catherine L Mercer; Arie van Haeringen; Qian Liu; Edwina Popek; Zeynep H Coban Akdemir; James R Lupski; Przemyslaw Szafranski; Bertrand Isidor; Cedric Le Caignec; Paweł Stankiewicz Journal: Am J Hum Genet Date: 2019-01-10 Impact factor: 11.025