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Sturge Weber Syndrome - Feature Article

Director of the New Jersey Pediatric Epilepsy Program of the Northeast Regional Epilepsy Group in Hackensack University Medical Center, Eric Segal, M.D sat down to talk about the Sturge Weber syndrome: what it is, how it is diagnosed and treated. He was interviewed by Sloka Iyengar, Ph.D., an epilepsy researcher at the NEREG who has a strong interest in epilepsy education and advocacy. 

What is Sturge Weber syndrome? 

Sturge Weber Syndrome is rare condition involving the brain, eye and skin.  Typically, patients have a type of skin lesion called a port-wine stain that can be found in the forehead and eyelid region of the face.  However, some patients may not have a port-wine stain or will have a port-wine stain in other areas of the head.  Patients will typically have a vein malformation in the brain called leptomeningeal angiomatosis that has a specific appearance on MRI and CT scan.  Sturge Weber Syndrome is associated with increased pressure in the eyes that can lead to glaucoma.  

How many people are affected by it?  

It is estimated about 1:20,000 to 1:50,000 of patients have Sturge Weber Syndrome.  

What are the symptoms?  

There are some very significant problems that can arise from each of the organs involved in Sturge Weber Syndrome.  Almost all patients have epilepsy which at times can be severe enough to develop status epilepticus.  Intellectual disability (low IQ scores) is very common.  Migraine-like headaches can occur frequently in patients.  Also, there are stroke-like episodes that can occur in patients as young as toddler-age.  Endocrine abnormalities such as central hypothyroidisim and growth hormone deficiency is more common among patients with Sturge Weber Syndrome compared to the general population.  

Glaucoma is also common and may not necessarily be on the same side as the port-wine stain.  As mentioned before, dermatological lesions consisting of port-wine stains are seen commonly in patients with Sturge Weber Syndrome.  

How is it diagnosed? 

In most cases, Sturge Weber Syndrome t is diagnosed by clinical examination that can be done in the doctor’s office.  However, sometimes it is diagnosed by imaging alone.  Sturge Weber Syndrome can be classified into 3 different categories according to the Roach Scale: Type I – both facial and leptomeningeal angioma (may have glaucoma); Type II – facial angioma alone (no abnormalities on imaging), may have glaucoma; and Type III – only leptomeningal-brain angionma with no glaucoma nor port-wine stain.   The GNAQ gene mutation has been identified as  a cause of Sturge Weber Syndrome.  

Do we know what causes it? 

The gene mutation identified in Sturge Weber Syndrome effects a signal pathway.  The exact target cells of this pathway have not been identified but it has been hypothesized that it related to abnormal vasculature that effects blood vessels in the brain, skin, and eyes.  

Could you talk a bit about seizures in Sturge Weber syndrome?  

Seizures tend to be focal (arising from one side of the brain) which at time may be accompanied by a secondary generalization.  However, generalized tonic-clonic seizures are also possible.  Status epilepticus is common and can be associated with a visual field defect or prolonged weakness on one side of the body lasting between days to months.  

(How) are seizures in Sturge Weber different from seizures in other epilepsies? 

Seizures tend to be secondary from congenital brain malformations as opposed to other epilepsies such as defective channels, metabolic dysfunction, etc.  There are different theories as to the high rate for this type of defect including secondary to lack of blood flow to specific areas of the brain or possibly the pathway involved in the genetic mutation we discussed could cause abnormal development to both brain and blood vessels.  

How are seizures in Sturge Weber treated? 

Many patients can be made seizure-free from epilepsy surgery.  Different approaches would include hemispheriectomy, lesionectomy, or corpus callostomy depending on the individual case.

Is there research going on to better understand this disorder? If so, what does research tell us?  

Research is being pursued from several different approces including understanding how the gene mutation leads to this Syndrome as well as how to treat individual organs effected.   

Do clinicians in NEREG take care of patients with Sturge Weber? 

Absolutely.  Since the majority of patients with Sturge Weber have epilepsy and many have medication-refractory epilepsy, an Epilepsy Center such as NEREG is an ideal fit.  Patients can pursue medical therapy as well as non-medication based therapy and trials of new potiential therapies.  In addition, we also provide neuropsychological evaluations and conseling to help treat the entire patient.  

Could you point our readers to foundations dedicated to helping patients with Sturge Weber and their caregivers?   

The Sturge Weber Foundation and the Epilepsy Foundation of New Jersey would be the best organizations to provide further support for patients with Sturge Weber and NEREG maintains an active relationship with these organizations.


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