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Neurocutaneous syndromes and epilepsy-issues in diagnosis and management.

Epilepsy may be seen as a feature of many of the neurocutaneous syndromes. The challenge lies within the diagnosis of the specific disorder and ultimately control of the epilepsy. Tuberous sclerosis is the most common of the disorders with a frequency of 4.9/100,000. An autosomal-dominant condition, diagnostic features may be unclear under 2 years of age. Population studies suggest a prevalence of epilepsy of 78%, the majority presenting under the age of 12 months, with a high association between the occurrence of seizures and the presence of learning disability. Although an apparent multifocal disease, surgery may have a role to play where seizures are demonstrated to probably arise from a single tuber. Other less common neurocutaneous syndromes also have a high prevalence of epilepsy in association with cerebral malformations; unilateral or lobar malformations should be referred early for surgical consideration. Neurofibromatosis is the second most common of the disorders but the prevalence of epilepsy in this population is relatively low; in addition, a greater proportion may be easier to treat with medication.

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