A 55 year old female with a recent history of COVID-19 infection and hypertension presented with a constellation of respiratory symptoms, including cough, chills, myalgia, shortness of breath, and pleuritic chest pain. CT chest imaging revealed a pattern of numerous pulmonary nodules and parenchymal cysts, consistent with the rare lung disease lymphangioleiomyomatosis (LAM). Notably, the patient had a past medical history of a spontaneous pneumothorax two years prior. Facial angiofibromas, characteristic of tuberous sclerosis, were observed upon physical examination. Further evaluation with CT abdomen and pelvis unveiled the presence of bilateral renal angiomyolipomas.

In this case, the patient presented with three major diagnostic criteria for Tuberous Sclerosis Complex (TSC): angiofibromas, lymphangioleiomyomatosis (LAM), and angiomyolipomas (≥2). In order to make a diagnosis of Tuberous Sclerosis, at least two major criteria are required¹.

According to the literature, the diagnosis of lymphangioleiomyomatosis can be established clinically through the presence of characteristic CT imaging findings and at least one of the following: a diagnosis of Tuberous Sclerosis Complex, a chylous effusion, lymphangioleiomyoma, renal angiomyolipoma, or elevated serum markers^2,3.

In summary, the CT findings and clinical presentation collectively fulfill the major diagnostic criteria for tuberous sclerosis and associated lymphangioleiomyomatosis, emphasizing the value of integrating clinical and radiological data in diagnosing complex genetic disorders.

Co-authors: Zoha Huda MD, Ahmad Munir DO, Said Shukri MD, Nazir Ahmad Lone MD