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Atypical presentation of lymphangioleiomyomatosis as jugular vein thrombosis.

Lymphangioleiomyomatosis is a rare disorder of unknown origin that almost exclusively affects women of childbearing age. It is characterised by proliferation of abnormal smooth muscle cells (lymphangioleiomyomatosis cells) in the pulmonary interstitium and along the thoracic and abdominal lymphatics. Lymphangioleiomyomatosis may be associated with tuberous sclerosis complex. The most common manifestations of lymphangioleiomyomatosis are pulmonary symptoms, including progressive dyspnoea, recurrent pneumothoraces and chylous effusions. Extrapulmonary lymphangioleiomyomatosis as the initial presentation of the disease is highly unusual. We describe a patient with extrapulmonary lymphangioleiomyomatosis presenting as jugular vein thrombosis related to lower neck lymphangioleiomyoma. CT study showed bilateral lung cysts with left-sided hydropneumothorax and retroperitoneal lymphadenopathy. A left lower neck cystic lesion was seen with thrombosis of the adjacent left subclavian and internal jugular veins.