SPONTANEOUS PNEUMOTHORAX AS A PRESENTATION OF LYMPHANGIOLEIOMYOMATOSIS IN TUBEROUS SCLEROSIS COMPLEX

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 rare cystic lung disorder with a worldwide incidence of only 100,000 cases. However LAM is known to occur in 30 to 40% of adult women with Tuberous sclerosis. Tuberous sclerosis (TSC) is an autosomal dominant inherited disorder that occurs almost exclusively in women. While tuberous sclerosis is known to be associated with tumor development, seizures, intellectual disability and skin lesions in childhood, pulmonary lymphangioleimyomatosis is a finding that occurs primarily in adult patients and may go undiagnosed until serious complications occur. Here we present a case of acute hypoxic respiratory failure due to a large pneumothorax in an adult patient with known TSC prompting diagnosis of LAM. CASE PRESENTATION: 35 year old female with history of tuberous sclerosis complex with associated seizure disorder and cognitive disability who presents from home with complaints of dyspnea after suffering a seizure. Patient was in her usual state of health until that evening when she had a seizure that is not unusual for her. She then developed increased work of breathing that worsened throughout the night which prompted her mother to call EMS. At that time she had oxygen saturations in the 70s and was brought to the emergency department. She was found to have a left large spontaneous pneumothorax that was treated with a tube thoracostomy. After discharge, patient had a high resolution chest CT that showed bilateral diffuse cystic disease consistent with lymphangioleiomyomatosis and was diagnosed with TSC-LAM. DISCUSSION: LAM is a rare disorder characterized by abnormal proliferation of smooth muscle cells. Pulmonary disease associated with LAM presents with progressive dyspnea, pneumothorax and chylothorax. Symptoms of LAM in TSC patients typically occur in adulthood and onset may be slow and progressive, ultimately leading to respiratory failure. High resolution chest CT is recommended in symptomatic patients. Characteristic CT findings are bilateral, diffuse, thin-walled cysts. While spontaneous LAM is rare, LAM in TSC patients is a more common occurrence with reported total prevalence 1-3% and up to 35% in women with TSC. Some studies suggest screening asymptomatic women with TSC 18 years and older given its high prevalence in that population. Once a clinical diagnosis of TSC-LAM is made, obtaining VEGF-D level can confirm the diagnosis given its high specificity for TSC-LAM. 50% of LAM patients will have pneumothorax during the course of their disease with a high recurrence rate. CONCLUSIONS: This case highlights the importance of considering LAM in patients with TSC who present with spontaneous pneumothorax. Reference #1: Taveira-DaSilva AM, Pacheco-Rodriguez G, Moss J. The natural history of lymphangioleiomyomatosis: markers of severity, rate of progression and prognosis. Lymphat Res Biol. 2010;8(1):9-19. Reference #2: Cudzilo C.J., Szczesniak R.D. Lymphangioleiomyomatosis screening in women with tuberous sclerosis. Chest. 2013;144:578–585. Reference #3: Northrup H, Krueger DA, International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013;49(4):243-54. DISCLOSURES: No relevant relationships by Augusto Amaral Neto, source=Web Response No relevant relationships by Jack Amja, source=Web Response No relevant relationships by Jennifer Broess, source=Web Response