Cystic disease of the lungs in tuberous sclerosis: clinicopathologic correlation, including body plethysmographic lung function tests

Cystic disease of the lungs with focal nodular adenomatoid proliferation is among the least common pathologic stigmas of tuberous sclerosis. It tends to develop in adult life, occurs more commonly among female patients who do not have mental retardation and epileptic seizures, and may be rapidly fatal after the onset of respiratory symptoms. Reported here is one such case, that of a 45-year-old woman who had, in addition to the pulmonary involvement, cerebral tubers, retinal phakomas, adenoma sebaceum, subungual fibromas, renal angiomyolipomas, cardiac angiofibroma, hepatic angiomas, and thyroid adenoma. This is also the first patient in whom pulmonary function tests by body plethysmography were performed, which aids our understanding of the pathophysiology of respiratory failure in tuberous sclerosis.