AN UNUSUAL CASE OF A SPONTANEOUS PNEUMOTHORAX

Abstract

SESSION TITLE: Tuesday Medical Student/Resident Case Report Posters SESSION TYPE: Med Student/Res Case Rep Postr PRESENTED ON: 10/22/2019 01:00 PM - 02:00 PM INTRODUCTION: Lymphangioleiomyomatosis (LAM) is a progressive, cystic lung disease that can either be sporadic or associated with Tuberous Sclerosis Complex (TSC) with many clinical, radiologic, and pathologic features identically represented between both variants. It predominantly affects young females and is characterized by proliferation of atypical smooth muscle cells, resulting in diffuse cysts throughout the pulmonary parenchyma. Due to the underlying damage, patients often present with a host of pulmonary complaints, including pneumothoraxes. CASE PRESENTATION: A 25-year-old female with a history of asthma, cerebral palsy, uncontrollable epilepsy, hydrocephalus with ventriculoperitoneal shunt and tuberous sclerosis presented to the emergency department for acute respiratory distress. The patient’s mother described the dyspnea as sudden-onset with worsening peripheral and central cyanosis. Paramedics were called and she was emergently intubated in the field. Initial chest x-ray revealed a large, left-sided pneumothorax with contralateral mediastinal shift. A chest tube was emergently placed with repeat imaging depicting lung expansion. The patient was admitted to the intensive care unit for monitoring. On day 2 of hospitalization, the patient underwent a computed tomography of the chest which depicted diffuse thin walled cysts with interlobular septal thickening, consistent with LAM. On day 7 of hospitalization she was extubated, with chest tube removed on day 10. Screening abdominal ultrasound revealed hepatic hemangiomas and renal angiomyolipomas. She was discharged in stable condition with close follow-up. DISCUSSION: LAM is a rare, multi-system disorder that is associated with mutations in TSC genes, particularly loss of function of the tuberous sclerosis protein TSC2. Furthermore, the predilection for females is supported by reports of disease exacerbation during menstruation, pregnancy and with estrogens. Common pulmonary presentations include exertional dyspnea, pleural effusions and recurrent spontaneous pneumothoraxes; however, as dyspnea is nonspecific, patients are often labeled as asthmatics. Evaluation consists of pulmonary function testing and high-resolution computed tomography (HRCT). LAM should be suspected in women presenting with spontaneous pneumothoraxes, and in those with TSC. Treatment of pulmonary LAM consists of targeting the mTOR protein with sirolimus and lung transplantation in severe disease. CONCLUSIONS: TSC associated LAM should be suspected in any female with a spontaneous pneumothorax. HRCT usually depicts diffuse cysts throughout the pulmonary parenchyma. Despite treatment with sirolimus, patients often require lung transplantation for long-term management. Reference #1: Johnson S. Lymphangioleiomyomatosis: clinical features, management and basic mechanisms. Thorax 1999;54:254-264 Reference #2: Lama A, Ferreiro L, Golpe A, et al. Characteristics of Patients with Lymphangioleiomyomatosis and Pleural Effusion: A Systematic Review. Respiration 2016; 91:256 DISCLOSURES: No relevant relationships by Sunil Chulani, source=Web Response No relevant relationships by Keith Guevarra, source=Web Response No relevant relationships by Amee Patrawalla, source=Web Response