Tuberous Sclerosis with Recurrent Pneumothoraces and Lung Transplantation-A Case Report

Abstract

Tuberous sclerosis with lung involvement is very rare. We report herein a case of tuberous sclerosis with recurrent spontaneous pneumothraces, for which lung transplantation was ultimately performed due to refractory cor pulmonale. A 23-year-old woman with tuberous sclerosis presented with recurrent pneumothoraces at our hospital. She had had a past history of right renal angiomyolipoma, and since childhood, she had been noted to have skin lesions with angiofibromas on both cheeks and in the lumbosacral area. With the assistance of sonography, she was also found to have hepatic tumors that had not grown for several years, indicating they were benign. These findings confirmed our diagnosis of tuberous sclerosis. As the disease progressed, chest radiographs revealed more interstitial lung infiltration and honeycombing change. Her pulmonary function also deteriorated progressively. Chronic respiratory failure began in 1999. Although she underwent lung transplantation, she died one year later due to severe infection and malignant lymphomas. To date, no one has reported an effective treatment for tuberous sclerosis. Although oophorectomy and treatment with progestational agents have been reported to provide improvement or stabilization of the disease in a subset of patients, only lung transplantation, which is an option for some patients, offers the possibility for cure.