Sturge-weber syndrome

CD Bachur, AM Comi - Current treatment options in neurology, 2013 - Springer
CD Bachur, AM Comi
Current treatment options in neurology, 2013Springer
Opinion statement We try to see the babies prior to the onset of symptoms so that their
parents can receive anticipatory guidance regarding seizures and how to recognize and
respond to them and so that proper referrals to ophthalmology can be made. If there is any
concern on history, exam, or EEG then we obtain a magnetic resonance imaging (MRI) with
contrast. If presymptomatic diagnosis of brain involvement is made then treatment with low-
dose aspirin is offered and if the brain involvement is extensively bilateral then an …
Opinion statement
We try to see the babies prior to the onset of symptoms so that their parents can receive anticipatory guidance regarding seizures and how to recognize and respond to them and so that proper referrals to ophthalmology can be made. If there is any concern on history, exam, or EEG then we obtain a magnetic resonance imaging (MRI) with contrast. If presymptomatic diagnosis of brain involvement is made then treatment with low-dose aspirin is offered and if the brain involvement is extensively bilateral then an anticonvulsant such as levetiracetam is offered as well. Seizures are treated aggressively with a goal of obtaining and maintaining complete seizure suppression as much as possible often with a combination of low-dose aspirin and two anticonvulsants such as levetiracetam and oxcarbazepine. For many patients, this will provide adequate control of their seizures and stroke-like episodes. If the patient fails medical management and seizures are regular and accompanied by plateaued development, significant hemiparesis and visual field deficit and the patient is unilaterally involved and a surgical candidate then surgical management is urged. When the seizures are less regular, little or no hemiparesis or visual field deficit exist, and development is reasonable then this decision is more difficult. For bilaterally involved patients surgery is usually not a good option unless seizures are very severe and mostly coming from one side. Other therapeutic options include the ketogenic/Atkins diet and vagal nerve stimulator although in our experience these usually do not result in cessation of seizures. Endocrine problems occur with increased frequency and must be treated when they are present. The recent discovery of the somatic mutation causing Sturge-Weber syndrome holds promise for new treatment options in the future.
Springer