Tuberous sclerosis: evaluation of intracranial lesions

The objective of this pictorial essay is to describe and provide examples of intracranial imaging findings of tuberous sclerosis (TS) extracted from our case series. Tuberous sclerosis is a neurocutaneous syndrome formerly described by Bourneville in 18801 (also known as Bourneville disease). This entity is an inherited autosomal dominant disease caused by mutation or deletion of two genes: one on chromosome 9, known as TSC1, and the other one on chromosome 16, known as TSC22. This neurocutaneous disease is characterized by the presence of a clinical triad (Vogt triad) of mental retardation, seizures and skin lesions (sebaceous adenoma, also called facial angiofibroma). All three signs are present in 30% of the cases. Diagnosis of the tuberous sclerosis complex (TSC) is made on the basis of clinical features, using major and minor diagnostic criteria3 (table 1). Based on these parameters, clinical diagnosis is considered to be: • Definite: when either two major criteria or one major criterion with two minor criteria are met. • Probable: when one major criterion and one minor criterion are met. • Possible: when wither 1 major criterion or two or more minor criteria are met. In our study, only intracranial findings are detailed. Within neurological signs and symptoms, seizures are the most common (82%). Seizures may be of any type except the so called petit mal (absence seizures). Mental retardation occurs in 48% of cases and it may be very severe, mainly in patients who had a very early seizure onset. Abstract Tuberous sclerosis is a neurocutaneous disease characterized by the clinical triad (Vogt triad) of mental retardation, seizures and skin lesions (sebaceous adenoma). It is also characterized by typical intracranial findings that lead to this diagnosis. The aim of this pictorial essay is to describe and provide examples of intracranial findings characteristic of tuberous sclerosis using images from our case series.