Pulmonary lymphangioleiomyomatosis and cerebrotendinous xanthomatosis: is there a link?

A 41-year-old woman had progressive shortness of breath. Cerebrotendinous xanthomatosis was diagnosed 4 years before. An open-lung biopsy showed the simultaneous presence of cerebrotendinous xanthomatosis and pulmonary lymphangioleiomyomatosis. This is perhaps the first time the coincidental occurrence of these two diseases is described.