see Adenomatoid disease of the lung

Extremely rare: unknown prevalence. It corresponds to type 0 of the adenomatoid disease of the lung currently called Congenital malformation of the airways. A mutation of the TBX4 (17q23.2), FGF10, or FGFR2 gene is found in 65 % of cases. 80 % of cases are full-term babies. Refractory hypoxemia and severe pulmonary hypertension within the hours following birth and rapid death. Cardiac and renal abnormalities are often associated.

Anesthetic implications:

management of severe pulmonary hypertension and hypoxemia during the neonatal period

References : 

-        Vincent M, Karolak JA, Deutsch G, et al.
Clinical, histopathological, and molecular diagnostics in lethal lung developmental disorders.
Am J Respir Crit Care Med 2019; 200 : 1093-101

Updated: October 2021