The management of tuberous sclerosis

Abstract 

About 60 children are born each year in the UK with tuberous sclerosis. Half will present with infantile spasms while one-quarter will have neither epilepsy nor learning difficulties. Management of epilepsy in the pre-school child is difficult but necessary as better control is associated with an improved outcome. Regular cranial scans are not necessary but investigating symptoms of raised intracranial pressure is urgent. Behavioural problems are common and include autism, hyperactivity, sleep disorder and deliberate self-harm. Renal disease, usually due to angiomyolipomas (AML), is common but symptoms of bleeding are not. If frank haematuria occurs, preserve the kidney if at all possible. DNA analysis of the two genes is difficult and is not suitable for exclusion of the disease in a sporadic case. The protein products control cell growth and this pathway may soon prove amenable to control with medications.

Keywords:  tuberous sclerosis, epilepsy, severe learning difficulty, dominant inheritance, hamartomas