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A5587 - Idiopathic Giant Bullous Emphysema in a Female Teenager
Author Block: S. G. Bickel1, K. Eastep1, M. Eid1, V. van Berkel2, N. S. Eid1, R. L. Morton1; 1Pediatrics, University of Louisville, Louisville, KY, United States, 2Cardiovascular and Thoracic Surgery, University of Louisville, Louisville, KY, United States.
INTRODUCTION: Idiopathic Giant Bullous Emphysema is a rare syndrome that classically affects young, thin adult males, often with a significant history of tobacco or illicit drug use. These lesions are usually described as affecting the upper lobes. We report on an obese sixteen-year-old female found to have giant bullous emphysema, predominately in the left lower lobe, without a clear underlying etiology. CASE PRESENTATION: A sixteen-year-old female presented to the emergency department of a free-standing, tertiary care pediatric hospital with a one-day history of dyspnea and cough. She was found to have numerous large air-filled bullae on chest imaging, predominately of the left lower lobe. She had no prior chest imaging. Previously, she had been diagnosed with asthma based upon clinical symptoms. After identification of her lesions, she was evaluated for possible underlying causes, treated with several courses of oral corticosteroids and started on inhaled corticosteroids. Spirometry revealed a mixed restrictive/obstructive pattern. Despite medical therapy, her symptoms and lung function progressively worsened, prompting left lower lobe bullectomy. Afterwards, the patient had resolution of her symptoms and marked improvement in lung function. DISCUSSION: Idiopathic giant bullous emphysema is an exceptionally rare cause of dyspnea and hypoxia and most commonly presents in thin, young adult male smokers. Only several cases have been described previously in children. Idiopathic giant bullous emphysema almost always affects the upper lobes, as opposed to the lower lobes as in this case. In pediatric patients, large bullae or cysts should raise concern for congenital lobar overinflation, congenital pulmonary airway malformations and pleuropulmonary blastomas. Additionally, giant bullae have been found in neurofibromatosis, tuberous sclerosis, sarcoidosis, Ehlers-Danlos, Marfan, and Birt-Hogg-Dubé syndromes, as well as lung disease associated with filamin A gene mutations. Our patient’s body habitus did not have Marfan features. She did not have any laxity in her joints nor any evidence of neurofibromatosis or tuberous sclerosis; her ACE level was normal, and the latter two syndrome were ruled out by normal gene sequencing. There have been reports that conservative corticosteroid and bronchodilator therapy may improve symptoms, lung function, and radiographic findings though these were ineffective in our case. Surgical intervention with bullectomy or wedge resection is generally accepted as the mainstay of treatment and was quite effective in our patient. CONCLUSION: Idiopathic Giant Bullous Emphysema may rarely affect teenagers. Practitioners should be aware of the workup to exclude inciting conditions and when to refer for definitive surgical intervention.