Renal Stones and Tuberous Sclerosis: A Rare Co-Existence

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome first described by Bourneville in 1880. It is a rare genetic disorder characterized by a triad of seizures, mental retardation and cutaneous lesions due to mutations in two genes, TSC1 and TSC2. We report a case of 46-years old male with generalised weakness and seizures. Patient was investigated and diagnosed after examination and investigation with tuberous sclerosis involving central nervous system i.e. sub-ependymal nodules and cortical tubers, skin manifestation adenoma sebaceum and ash leaf spots, lungs with cysts i.e. lymhangioleiomyomatosis, kidneys with angiomyolipomas and cysts . Patient also had right partial staghorn stone which was challenge for management.  The patient was managed with right extended pyelolithotomy and discharged only to be re-admitted with vesical calculus after 18 months. This case report emphasizes the rare co-existence of renal stone formation with tuberous sclerosis.