Lymphangioleiomyomatosis and renal angiomyolipoma in tuberous sclerosis complex
Presentation
Cough, chills, myalgia, shortness of breath, and pleuritic chest pain.
Patient Data
CT Chest
Numerous randomly distributed subcentimeter pulmonary nodules, majority of which are new compared with prior exam for which considerations include infection, inflammation, or metastasis/malignancy.
Peripheral ill-defined airspace opacities in the right upper lobe and right lower lobe which could represent atelectasis or scarring.
Numerous thin-walled parenchymal cysts in keeping with patient's known lymphangioleiomyomatosis.
Numerous sclerotic lesions throughout the vertebral bodies and posterior elements similar to the prior exam.
CT Abdomen and Pelvis
The left kidney is entirely replaced with enhancing mass with associated macroscopic fat likely representing complete replacement with angiomyolipomas. Embolic material seen within the distal left renal artery unchanged. Multiple enhancing right renal masses some of which contain macroscopic fat grossly unchanged consistent with angiomyolipomas. Enhancing posterior right mid to lower pole exophytic lesion measuring 1.7 cm. The ureters are unremarkable.
Skin Findings
Facial angiofibromas commonly associated with Tuberous Sclerosis.
Case Discussion
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 markers2,3.
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
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