CNS and cutaneous involvement in tuberous sclerosis complex

A 13-year-old boy with tuberous sclerosis complex (TSC) presented with a painless, gradually progressive area of thickened skin in the occipito-cervical region corresponding to a giant shagreen patch (Figure A). Physical examination demonstrates facial angiofibromas (Figure B) and periungual fibromas. He also presented mental retardation and tonic-clonic seizures. MRI revealed a subependymal nodule in the lateral ventricle, cortical tubers and the shagreen patch (Figures C and D). The diagnosis of TSC is based on clinical criteria1,2. In our patient brain MRI was able to demonstrate at least three TSC major features, which met the criteria for a definitive diagnosis.