Familial genetic tuberous sclerosis complex associated with bilateral giant renal angiomyolipoma: A case report

Tuberous sclerosis complex (TSC) is an autosomal dominant disease involving multiple organs, but there are a limited number of reports on family TSC. In the present report, a case of a 52-year-old female with a familial genetic TSC, associated with bilateral giant renal angiomyolipoma, was described. The mother, second elder brother and daughter of the patient all exhibited TSC, but the clinical manifestations, and therapeutic prognosis between the family members were not the same. The present case report aimed at identifying an effective diagnostic method and treatment through additional study of familial genetic TSC, in order to prolong and improve the quality of life for patients with TSC. According to the present case and relevant literature reviews, it is suggested that fetal gene detection during pregnancy could prevent the passing of this disease onto further generations. Furthermore, early application of drug treatment may control the development of the disease in diagnosed patients. The combination of classical treatments with a small dose of mammalian target of rapamycin inhibitors is the typical recommendation, which may control the development of the disease more effectively and decrease adverse side-effects.