Case Report
Year: 2017 | Month: July | Volume: 7 | Issue: 7 | Pages: 381-387
Everolimus: Paradigm Shift in the Management of Tuberous Sclerosis
Dr Sabarish Mahalingam1, Dr P. Z. Wadia2, Dr Priyanka Lad1, Dr Mithram Wadia3
1Resident Doctor, 2Additional Professor,
Department of Internal Medicine, Government Medical College, Surat
3Intern Doctor, Government Medical College, Surat
Corresponding Author: Dr Sabarish Mahalingam
ABSTRACT
Tuberous sclerosis, also known as Bourneville's disease, is a rare autosomal dominant genetic disorder classically characterized by the triad of mental retardation, seizures, and facial angiofibromas. We reported a case of 35 year old female with Tuberous sclerosis complex syndrome presented with facial angiofibromas, pulmonary cyst, pancreas hypoplasia, angiomyolipomas of the bilateral kidney and subependymal nodules.
Key words: Tuberous sclerosis complex, facial angiofibromas, angiomyolipomas of the bilateral kidney, subependymal nodules.