Abstract
Congenital pulmonary lymphangiectasis (CPL) has been a recognized pathological condition in the newborn for nearly a century. However, all previously reported cases have been sporadic. We report here two female siblings with CPL.
The children were born two years apart to normal parents. Family history and both pregnancies were unremarkable. Both, grossly normal at birth, developed bilateral pneumothorax, did not respond to treatment, and died within 24 hours of birth.
At autopsy, gross examination of the lungs revealed sub-pleural cystic areas containing clear fluid in all lobes. All other organs from both children appeared normal. Histological examination in both cases confirmed the diagnosis of CPL.
CPL has long been considered non-familial. However, its relative rarity may lead to underdiagnosis of CPL in distressed newborns, and thus, to underestimation of familial occurrence. This first reported instance of CPL occurring in sibs should stimulate interest in the accurate diagnosis and further search for a possible genetic component in this disorder.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Warren, S., Quiachon, E., Higgins, J. et al. CONGENITAL PULMONARY LYMPHANGIECTASIS OCCURRING IN SIBLINGS: POSSIBLE GENETIC IMPLICATIONS. Pediatr Res 11, 581 (1977). https://doi.org/10.1203/00006450-197704000-01266
Issue Date:
DOI: https://doi.org/10.1203/00006450-197704000-01266