Pediatric Lymphangioleiomyomatosis

  • Etiology: Smooth muscle-like lymphangioleiomyomatosis cells contain inactivating mutations of TSC2 or TSC1 tumor suppressor genes resulting in proliferation of lymphangioleiomyomatosis cells which migrate through lymphatic vessels, infiltrating airways and blood vessels, resulting in lymphatic and vascular obstruction, leading to pulmonary hemorrhage and chylous effusions
  • Imaging CXR:
    — Hyperexpanded lungs
    — Chylothorax
    — Pneumothorax
  • Imaging CT:
    — Hyperexpanded lungs with thin walled round cysts that progressively enlarge over time until little normal lung is left
    — Chylous effusions
    — Pneumothorax
    — Lymphadenopathy
    — Dilated thoracic duct
    — Sclerotic and cystic bone lesions
  • DDX: Emphysema, lymphocytic interstitial pneumonitis, pulmonary Langerhans cell histiocytosis
  • Complications: Respiratory failure, recurrent pneumothorax
  • Treatment:
  • Clinical: Presents in late teens or adulthood with lymphatic or lung disease

Radiology Cases of Lymphangioleiomyomatosis

CXR and CT of lymphangioleiomyomatosis
CXR PA (above left) shows large bilateral pleural effusions. Axial CT with contrast of the chest (above right) shows the pleural effusions to be septated. The lung parenchyma (middle) was normal while the bones (below) had multiple cystic bone lesions in the right scapula, vertebral bodies and bilateral ribs.
CXR and CT of lymphangioleiomyomatosis in a patient with tuberous sclerosis
CXR PA (above) shows bilateral basilar interstitial infiltrates with variably sized cystic spaces. Axial CT without contrast of the right lung (below left) shows a prominent reticular interstitial pattern with fibrosis and widely distributed thin walled cystic spaces. In the left lung (below right), there are similar findings along with a loculated pneumothorax that had been treated with sclerotherapy in the past.