Disease: Lymphangioleiomyomatosis

Clinical Information:

This 33 y.o. female presented with SOB, oxygen desaturation with exercise and exertional breathless for 3 years.

Imaging:

The CXRs demonstrate pulmonary hyperexpansion and fine linear, cystic or nodular opacities.

HRCT demonstrates diffuse replacement of lung parenchyma with cysts of somewhate uniform size. Some patients also have angiomyolipomas of the kidneys so it is important to image the kidneys in these patients.

Discussion:

Hypertrophy of the smooth muscle of lymphatics, bronchioles, venules and other tissues results in this disease. It is seen in women of reproductive age. Patients often present with pneuomothorax, dyspnea, hemoptysis and chylous pleural effusions. Pulmonary function tests show increased TLC and RV, decreased DLCO and V/Q mismatch.

Differential Diagnosis (DDx):

Eosinophilic Granuloma

Tuberous Sclerosis

Neurofibromatosis

References:

Hay, J.G. Turner-Warwick,M. "Pulmonary Hemosiderosis, HemorrhagicSyndromes and Other Rare Infiltrative Disorders" in Murray, J.F.,Nadel, J.A. eds. Textbook of Respiratory Medicine. W.B. Saunders 1988. pp. 1508.

Case contributed by Valerie Hale, MD.


Debra Dyer, MD