Managing Epilepsy in Tuberous Sclerosis Complex

Elizabeth Anne Thiele MD, PhD

Disclosures

J Child Neurol. 2004;19(9):680-686. 

In This Article

Abstract and Introduction

Epilepsy is very common in tuberous sclerosis complex and occurs in 80 to 90% of affected individuals during their lifetime. Onset usually occurs during childhood, and up to one third of children with tuberous sclerosis complex will develop infantile spasms. Although not completely understood, the incidence of epilepsy is thought to relate to the neuropathologic features of the disorder, including cortical tubers and other dysgenetic features. Individuals with tuberous sclerosis complex frequently have epileptiform features to their electroencephalograms. Treatment of epilepsy in tuberous sclerosis complex is similar to epilepsy resulting from other causes and includes anticonvulsant medications, the vagus nerve stimulator, and the ketogenic diet. Vigabatrin has been shown to be particularly effective in treating infantile spasms in the setting of tuberous sclerosis complex. Epilepsy surgery has a very important role in the management of children and adults with pharmacoresistant epilepsy in tuberous sclerosis complex.

Tuberous sclerosis complex is a multisystem genetic disorder of variable phenotypic expression, with an incidence of about 1 in 5800 live births worldwide.[1] The disorder results from a mutation in the TSC1 gene in chromosomal region 9q34 or the TSC2 gene in chromosomal region 16p13 and is inherited in an autosomal dominant fashion, although up to two thirds of cases result from spontaneous genetic mutation.[2,3] The major neurologic manifestations of tuberous sclerosis complex are seizures, autism, developmental delays, including mental retardation, and behavioral and psychiatric disorders.

Epilepsy is the most common presenting symptom in tuberous sclerosis complex and is also the most common medical disorder in tuberous sclerosis complex. Up to 80 to 90% of individuals with tuberous sclerosis complex will develop epilepsy during their lifetime,[4] with onset typically in childhood. The majority of children with tuberous sclerosis complex have onset of seizures during the first year of life, and up to one third of children with tuberous sclerosis complex will develop infantile spasms.

Almost all seizure types can be seen in a child with tuberous sclerosis complex, including tonic, clonic, tonic-clonic, atonic, myoclonic, atypical absence, partial, and complex partial. Only "pure" absence seizures are not observed. Seizures that appear generalized, both clinically and by electroencephalographic (EEG) characteristics, can have partial onset in tuberous sclerosis complex and therefore might respond to anticonvulsant medications indicated for partial-onset seizures. If such seizures prove difficult to control with anticonvulsant medications and other medical therapies, seizure foci can potentially be identified by neurophysiologic and neuroimaging techniques, making epilepsy surgery a possible treatment.

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