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.Lymphangioleiomyomatosis (LAM) is a rare interstitial lung disease that affects women exclusively, typically during their reproductive years. A small percentage of patients have LAM in association with tuberous sclerosis complex (TSC). LAM is characterised by the abnormal proliferation of smooth muscle cells (LAM cells) in the lungs and in the thoracic and retroperitoneal lymphatics. Affected patients are at risk of developing renal hamartomas or angiomyolipomas. Patients with LAM characteristically present with chronic dyspnoea and cough and less commonly with spontaneous pneumothorax.At radiography, LAM manifests with normal-to-large lung volumes and interstitial reticular opacities that may be subtle. Unilateral pneumothorax and unilateral or bilateral pleural effusions are frequent radiographic findings. CT and high-resolution CT demonstrate bilateral diffuse thin-walled cysts surrounded by normal lung parenchyma. CT may also demonstrate associated pleural effusion or pneumothorax, thoracic or abdominal lymphadenopathy and other abdominal abnormalities, including angiomyolipomas, lymphangioleiomyomas and ascites.Manifestation of extrapulmonary LAM as an initial presenting symptom is rare. The most common forms of extrapulmonary LAM include renal angiomyolipoma, enlarged abdominal lymph nodes and lymphangioleiomyoma. Less commonly, ascites and hepatic angiomyolipoma may be present. If the diagnosis of extrapulmonary LAM precedes that of pulmonary LAM, the patient usually develops chest symptoms within one to two years.