Williams-Beuren syndrome presenting as pulmonary edema with pleural effusion: a new pulmonary manifestation of elastin vasculopathy

Abstract

Introduction: Williams-Beuren syndrome (WBS) is a gene deletion disorder characterized by distinct facial features, cardiovascular anomalies, and intellectual disability. Many genes are involved in WBS, of which the elastin (ELN) gene deletion is almost present in all cases. Limited data exist about pulmonary diseases in children with WBS. Furthermore, pleural effusion (PE) has not been reported in these patients. Case Presentation: A term, small-for-gestational-age (SGA) male Caucasian newborn presented with respiratory distress shortly after vaginal birth. A chest radiograph showed significant pulmonary edema with bilateral pleural effusion. A 2D Echocardiogram demonstrated supravalvular aortic stenosis and branch pulmonary stenosis suspecting WBS. A genetic evaluation revealed an interstitial 1.5Mb deletion in the long arm of chromosome 7 involving band q11.23 confirming the diagnosis of WBS. The child underwent surgical repair at 4 months for age due to cardiac disease progression. Conclusions: An unexplained finding of pulmonary edema and PE in a newborn can be associated with genetic disorders and warrants investigation for WBS, especially in SGA newborns.