Congenital Acinar Dysplasia: Report of a Case and Review of Literature

Abstract

Objective Describe a case of congenital acinar dysplasia and review the literature.

Study Design Retrospective chart review and literature search.

Results Congenital acinar dysplasia is a rare malformation of growth arrest of the lower respiratory tract resulting in critical respiratory insufficiency at birth. It is a form of pulmonary hypoplasia that is characterized by diffuse maldevelopment and derangement of the acinar and alveolar architecture of the lungs, resulting in the complete absence of gas exchanging units. The growth-arrested lung tissue resembles the pseudoglandular phase of 16 weeks' gestation. The etiology is unknown. It is diagnosed by exclusion of all other causes of pulmonary hypoplasia and a summation of clinical, imaging, and histopathologic findings.

Conclusion There is no cure and clinical treatment is supportive until death of the infant. We present a case of congenital acinar dysplasia in a male infant who lived 20 days with intensive support.

Keywords

pulmonary hypoplasia - respiratory insufficiency - lung maldevelopment - congenital anomaly

• References

• 1 Rutledge JC, Jensen P. Acinar dysplasia: a new form of pulmonary maldevelopment. Hum Pathol 1986; 17: 1290-1293
• 2 Deutsch GH, Young LR, Deterding RR , et al; Pathology Cooperative Group; ChILD Research Co-operative. Diffuse lung disease in young children: application of a novel classification scheme. Am J Respir Crit Care Med 2007; 176: 1120-1128
• 3 Chambers HM. Congenital acinar aplasia: an extreme form of pulmonary maldevelopment. Pathology 1991; 23: 69-71
• 4 Davidson LA, Batman P, Fagan DG. Congenital acinar dysplasia: a rare cause of pulmonary hypoplasia. Histopathology 1998; 32: 57-59
• 5 Moerman P, Vanhole C, Devlieger H, Fryns JP. Severe primary pulmonary hypoplasia (“acinar dysplasia”) in sibs: a genetically determined mesodermal defect?. J Med Genet 1998; 35: 964-965
• 6 Al-Senan KA, Kattan AK, Al-Dayel FH. Congenital acinar dysplasia. Familial cause of a fatal respiratory failure in a neonate. Saudi Med J 2003; 24: 88-90
• 7 Gillespie LM, Fenton AC, Wright C. Acinar dysplasia: a rare cause of neonatal respiratory failure. Acta Paediatr 2004; 93: 712-713
• 8 Stocker JT, Madewell JE, Drake RM. Congenital cystic adenomatoid malformation of the lung. Classification and morphologic spectrum. Hum Pathol 1977; 8: 155-171
• 9 Shaw-Smith C. Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature. Eur J Med Genet 2010; 53: 6-13
• 10 Dishop MK. Paediatric interstitial lung disease: classification and definitions. Paediatr Respir Rev 2011; 12: 230-237