Congenital generalized lymphangiectasia: a rare developmental disorder for non-immune fetal hydrops

Abstract

Firstly described by Rudolf Virchow in the 19th century, congenital generalized lymphangiectasia is a rare entity characterized by dilation of lymphatic vessels, and was recently classified in primary or secondary lymphangiectasia. Generalized forms may be diagnosed during pre-natal follow-up with ultrasound examination, and, depending on its severity, the newborn outcome is very poor. The authors report the case of a female newborn with a previous diagnosis of fetal hydropsy who was born after a full-term gestation with respiratory failure due to bilateral voluminous pleural effusion and ascites. Physical examination also disclosed syndromic facies. Despite all efforts of the intensive supportive care, the patient died after 24 days of life. The autopsy findings were consistent with the diagnosis of congenital pulmonary lymphangiectasia. The authors call attention to this rare diagnosis in patients with cavitary effusion and respiratory insufficiency at birth.

Pathological MAPK activation–mediated lymphatic basement membrane disruption causes lymphangiectasia that is treatable with ravoxertinib

“…To facilitate effective gas exchange, an extensive network of lymphatic vessels within the pleura, the intercostal space, the perivascular spaces of arterioles and venules, and the connective tissue of the terminal and respiratory bronchioles collect interstitial fluid (lymph) and drain it back to the venous system (11)(12)(13)(14). Abnormal dilation of these lymphatic vessels, known as lymphangiectasia, has been frequently associated with neonatal chylous effusion, immature lungs, and severe respiratory distress with mortality (15)(16)(17)(18)(19)(20). Even though Rudolf Virchow described neonatal pulmonary lymphangiectasia as early as 1856 (21), the underlying causal etiology and treatment options remain elusive.…”