Familial occurrence of congenital pulmonary lymphangiectasis. Genetic implications
A. B. Scott-Emuakpor, S. T. Warren, S. Kapur, E. B. Quiachon and J. V. Higgins
Congenital pulmonary lymphangiectasis (CPL) is a rare, generalized disease
of the lung, consisting of lymphatic cysts in the subpleural and
interlobular connective tissue. This disorder typically manifests a
clinical picture of acute respiratory distress with cyanosis shortly after
birth, with death occurring in the neonatal period. Several cases of this
disorder have been described in the literature, but there has been no
family with more than one affected child. We report the first instance, to
our knowledge, of familial cases of CPL, which raises an important question
regarding a possible genetic component in this disorder. The implications
of this are discussed.
