SHM Converge Scientific Abstract ePoster Gallery-Uncommon Manifestation of Lymphangioleiomyomatosis

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This document presents an unusual case of lymphangioleiomyomatosis (LAM), a rare syndrome mainly affecting women of reproductive age. A 42-year-old woman was admitted to the ICU with suspected septic shock, presenting with right lower abdominal and back pain, fever, nausea, vomiting, hypotension, and marked leukocytosis. Blood cultures grew Streptococcus agalactiae. CT imaging showed a thick-walled retroperitoneal fluid collection anterior to the psoas muscle, multiple additional retroperitoneal cysts, a left renal cyst, and bilateral adnexal cysts. HRCT of the chest revealed diffuse thin-walled cystic lung disease and bilateral pleural effusions suggestive of chylous fluid. VEGF-D was elevated at 1040 pg/mL, supporting the diagnosis of LAM.<br /><br />The case is notable because the patient had no prior respiratory symptoms and presented instead with septic shock due to secondary infection of a retroperitoneal cyst, an uncommon manifestation not previously documented. The discussion reviews LAM pathophysiology, including cyst formation in the lungs and lymphatic system due to abnormal LAM cell proliferation, often related to TSC gene mutations and mTOR pathway activation. Common presentations include pneumothorax, dyspnea, chylous pleural effusion, and renal angiomyolipoma.<br /><br />Diagnosis of LAM is based on HRCT findings plus confirmatory features such as elevated VEGF-D, renal angiomyolipoma, lymphangioleiomyomas, or chylous effusions. The authors also note important differential diagnoses for diffuse cystic lung disease, including Sjogren’s syndrome, pulmonary Langerhans cell histiocytosis, emphysema, follicular bronchiolitis, lymphoid interstitial pneumonia, and Birt-Hogg-Dubé syndrome. Treatment options include sirolimus and everolimus. The report emphasizes the importance of identifying the underlying cause of atypical presentations and highlights a rare infectious complication of LAM.

Asset Subtitle

Ronald Cho

Meta Tag

Author List Aaron Schluger, Nirali Sanghavi, Ronald Cho

Category Clinical Vignettes

Concept Lymphangioleiomyomatosis

Concept Cystic Lung Disease

Concept High-Resolution Computed Tomography

Concept Diffuse Cystic Lung Disease

Concept Sirolimus

Distinguished Non-Finalist

Presenter Organization Westchester Medical Center

Presenting Author Ronald Cho

Track Adult

Keywords

lymphangioleiomyomatosis

LAM

retroperitoneal cyst

septic shock

Streptococcus agalactiae

VEGF-D

diffuse cystic lung disease

chylous pleural effusion

mTOR pathway

sirolimus

Lymphangioleiomyomatosis

Cystic Lung Disease

High-Resolution Computed Tomography

Diffuse Cystic Lung Disease

Sirolimus