Autopsy and Case Reports
https://autopsyandcasereports.org/article/doi/10.4322/acr.2019.119
Autopsy and Case Reports
Article / Autopsy Case Report

Congenital acinar dysplasia: a lethal entity

Sabrina Oneto; Robert J. Poppiti

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Abstract

Congenital acinar dysplasia is a lethal, developmental lung malformation resulting in neonatal respiratory insufficiency. This entity is characterized by pulmonary hypoplasia and arrest in the pseudoglandular stage of development, resulting in the absence of functional gas exchange. The etiology is unknown, but a relationship with the disruption of the TBX4-FGF10 pathway has been described. There are no definitive antenatal diagnostic tests. It is a diagnosis of exclusion from other diffuse embryologic lung abnormalities with identical clinical presentations that are, however, histopathologically distinct.

Keywords

Embryology, Lung, Respiratory Insufficiency

References

Rutledge JC, Jensen P. Acinar dysplasia: a new form of pulmonary maldevelopment.

 

Hum Pathol. 1986;17(12):1290-3. [https://doi.org/10.1016/S0046-8177(86)80576-7].
 

 

Langenstroer M, Fanaian N, Attia S, Carlan SJ. Congenital acinar dysplasia: report of a case and review of literature.

 

 

AJP Rep. 2013;3(1):9-12. [https://doi.org/10.1055/s-0032-1329126].
 

 

Coppolette JM, Wolbach SB. Body length and organ weights of infants and children.

 

 

Am J Pathol. 1933;9:55-70.
 

 

Gilbert-Barness E, Debich-Spicer DE.

 

 

Handbook of pediatric autopsy pathology. Totowa: Human Press; 2005. p. 258-64. [https://doi.org/10.1385/1592596738].
 

 

Hansen K, Sung CJ, Huang C, Pinar H, Singer DB, Oyer CE. Reference values for second trimester fetal and neonatal organ weights and measurements.

 

 

Pediatr Dev Pathol. 2003;6(2):160-7. [https://doi.org/10.1007/s10024-002-1117-3].
 

 

DeBoer EM, Keene S, Winkler AM, Shehata BM. Identical twins with lethal congenital pulmonary airway malformation type 0 (acinar dysplasia): further evidence of familial tendency.

 

 

Fetal Pediatr Pathol. 2012;31(4):217-24. [https://doi.org/10.3109/15513815.2011.650284].
 

 

Karolak JA, Vincent M, Deutsch G, et al. Complex compound inheritance of lethal lung developmental disorders due to disruption of the TBX-FGF pathway.

 

 

Am J Hum Genet. 2019;104(2):213-28. [https://doi.org/10.1016/j.ajhg.2018.12.010].
 

 

Ernst LM, Ruchelli ED, Huff DS.

 

 

Color atlas of fetal and neonatal histology. New York: Springer; 2011 p. 29-30. [https://doi.org/10.1007/978-1-4614-0019-6].

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 


Publication date:
09/27/2019

5d8e4f8a0e88257363140c98 autopsy Articles
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