Tuberous sclerosis with bilateral angiomyolipomas

ABSTRACT

A case of a 30-year-old female with tuberous sclerosis, a genetic, rare, variably expressed disease is described in the present case report. Clinical symptoms were unexplained fever, pain in lumber areas and gross hematuria. Computed tomography scan of the abdomen revealed enlarged, heterogeneous kidneys, with low density tumors corresponding to angiomyolipomas. Computed tomography scan of the chest showed bilateral, diffuse, small thin-walled cysts in the lungs characteristic for pulmonary lymphangioleiomyomatosis. CT scan of the brain revealed subependymal calcifications. These three diagnostic features are rarely exhibited in a single patient. Bilateral renal angiomyolipomas and pulmonary lymphangioleiomyomatosis are some presentations of tuberous sclerosis and the coexistence of both conditions may cause devastating morbidity and mortality