SESSION TYPE: Miscellaneous Student/Resident Case Report Posters
PRESENTED ON: Tuesday, October 23, 2012 at 01:30 PM - 02:30 PM
INTRODUCTION: Williams-Beuren syndrome (WBS) results from a chromosomal deletion containing the elastin gene, which produces a component in elastic fibers that is essential in lung structure. While limited data has been published on the association between WBS and pulmonary disease, no previous cases have been reported in our literature review on congenital lobar emphysema (CLE) in patients with WBS.
CASE PRESENTATION: A two month-old male with WBS and complex cardiac lesions who presented for surgical cardiac repair, was found to have persistent right upper lobe (RUL) atelectasis for three weeks, which prompted a pulmonary consultation. Pre-operative chest radiograph (CXR) demonstrated RUL atelectasis which persisted on serial CXRs after surgery. During cardiac surgery, incidental right middle lobe (RML) hyperinflation was noted. Physical exam initially revealed scattered expiratory wheeze, and later episodic tachypnea, hyperinflation, and decreased ventilation over the right upper/middle lung fields. Serial CXRs gradually indicated RML hyperinflation. Chest CT showed significant RML hyperaeration and possible emphysematous changes. Ventilation/Perfusion (V/Q) scan revealed RML matched V/Q defects, and bronchoscopy demonstrated a small, collapsed RML bronchial orifice. The patient subsequently underwent an uncomplicated RML lobectomy at three months-old to treat CLE. Pathology revealed diffuse alveolar overdistention and focal disruption of alveolar walls. Post-operative exam demonstrated decreased hyperinflation and improved right lung aeration.
DISCUSSION: Congenital lobar emphysema is a rare congenital anomaly characterized by the development of one or more hyperinflated pulmonary lobes. Initial presentation includes tachypnea, wheeze, and cough. Diagnosis can often be made by identifying hyperlucency and emphysema of the affected lobe, mediastinal shift, and compression of adjacent structures. CLE arises from various abnormal developments in the bronchopulmonary system. WBS occurs from a submicroscopic deletion which encompasses the elastin gene at 7q11.23. Studies have shown that elastin gene defects are associated with a variety of pulmonary diseases, affecting lung structure and function. Similarly, CLE can result from impairments such as defects in the bronchial wall structure.
CONCLUSIONS: Further studies should be done to investigate the pathophysiology and the role of the elastin gene in congenital lobar emphysema and Williams-Beuren syndrome.
1) Wan ES, Pober BR, Washko GR, Raby BA, Silverman EK. Pulmonary function and emphysema in Williams-Beuren syndrome. Am J Med Genet Part A. 2010;152A:653-6.
DISCLOSURE: The following authors have nothing to disclose: Wai Wong, Elizabeth Fiorino
No Product/Research Disclosure InformationPediatric Pulmonology, New York University, New York, NY