Tuberous sclerosis is an autosomal dominant multisystem disease caused by two different genes, one located on chromosome 9q34 (TSC1) and the other on chromosome 16p13 (TSC2). The most common major neurological symptoms are epilepsy and mental retardation. Neuroimaging techniques will accurately depict the frequency and extent of anatomical involvement of brain structures. This involvement is the result of impaired control of cell proliferation, migration and differentiation leading to the development of hamartomas in different organs and tissues. We report our findings in a series of 93 patients recruited at the Paediatric Clinic of Siena University Hospital.
