Sturge-Weber Syndrome

What Is Sturge–Weber Syndrome?

Sturge-Weber Syndrome which is also known by the name Encephalotrigeminal Angiomatosis is a pathological condition in which there is development of leptomeningeal angiomas in the skin of the face normally in the ophthalmic and maxillary portions of the trigeminal nerve. The characteristic feature of Sturge-Weber Syndrome is a Port Wine Stain in the face.

Sturge-Weber Syndrome

What Are The Causes Of Sturge–Weber Syndrome?

The main cause of development of Sturge-Weber Syndrome is the mutation in the GNAQ gene, although the extent to which the mutation is involved in the development of the disease is variable and differs from individual to individual and depends on the location and timing of the mutation at the time of the development of the fetus. The exact cause of this disease is still a matter of ongoing research in order to have a deeper knowledge of this mutation and thus developing a definitive treatment for Sturge-Weber Syndrome and also find ways of preventing the complications caused by this disease.

Who Are At Risk For Getting Sturge-Weber Syndrome?

Sturge-Weber Syndrome is not a congenital disorder and therefore it does not run in families. Thus if a family member of an individual has a history of Sturge-Weber Syndrome then it does not imply that the individual will also have that disease. This disease is found in both boys and girls in equal proportions who have a Port Wine Stain on their face and forehead regions.

What Are The Classifications Of Sturge-Weber Syndrome?

Studies have classified Sturge-Weber Syndrome into three types

  • Type I: This is the most common form of Sturge-Weber Syndrome. This type involves both facial as well as leptomeningeal angiomas and also may involve glaucoma. There may be observation of frequent seizures within the first few years of life due to the involvement of brain. There may also be involvement of the eyes noted within the first year of life. The white part of the eye appears to be dark red due to excessive blood vessels in the eye. In this type of Sturge-Weber Syndrome, there may be impairment of both physical and mental development depending on the extent of the disease and the involvement of the brain and eye.
  • Type II: This form of Sturge-Weber Syndrome involves facial angioma along with glaucoma but there is no intracranial disease present. There is no specific time for the appearance of symptoms in this form. For the whole life, the affected individual may experience symptoms of glaucoma, abnormalities in the blood flow to the cerebrum, frequent headaches, and a few other complications.
  • Type III: In this form of Sturge-Weber Syndrome, there is presence of leptomeningeal angioma but there is no involvement of the face and there is no glaucoma apparent. This form of Sturge-Weber Syndrome is usually identified by brain scanning. At times, this form of Sturge-Weber Syndrome can be misdiagnosed as some other disorder unless the brain scans prove it otherwise.

What Are The Symptoms Of Sturge–Weber Syndrome?

Some of the symptoms of Sturge-Weber Syndrome are

  • Port-wine stain on the face and forehead regions
  • Seizure disorder
  • Weakness or paralysis of one side of the body
  • Severe learning impairment

How Is Sturge–Weber Syndrome Diagnosed?

To diagnose Sturge-Weber Syndrome, the easiest way the characteristic feature of a Port Wine Stain on the face and forehead region which confirm the diagnosis along with presence of glaucoma and presence of abnormal blood vessels in the brain. Thus, further evaluations by Neurology, Ophthalmology, Dermatology needs to be conducted to confirm the diagnosis of Sturge-Weber Syndrome. Sturge-Weber Syndrome is a type of disorder in which at times there is involvement of only one organ structure or there may be involvement of two organ structures at one time. Infants with Sturge-Weber Syndrome are born with Port Wine Stain in the face which can be confirmed with a dermatologic evaluation. Also there is presence of seizures within the first year of life and EEG and MRI scan of the brain with contrast can confirm the involvement of the brain. Neurological symptoms can be observed as early as infancy or may develop later in childhood. There may be development of glaucoma as early as infancy and hence individual who are at risk for Sturge-Weber Syndrome need to have routine eye examinations.

What Are Treatments For Sturge–Weber Syndrome?

Sturge-Weber Syndrome is usually treated symptomatically but the treatment is usually delayed due to a delay in diagnosis of this disease since this disease is quite rare. For seizure control, anticonvulsant medications are used. Migraines headaches are treated with appropriate medications. At times, in Sturge-Weber Syndrome symptoms can present themselves at a later stage also and will need to be treated accordingly. Another treatment option is the use of low dose aspirin which has been successful for some people in symptom control.

What Are The Complications Of Sturge-Weber Syndrome?

Some of the complications of Sturge-Weber Syndrome are:

  • Abnormal growth of blood vessels in skull
  • Progressive growth of Port Wine Stain in the face and forehead regions
  • Significant developmental delays
  • Behavioral disorders
  • Glaucoma which may at times cause blindness
  • Paralysis
  • Seizure disorder

Life Expectancy, Prognosis And Learning Disability In Sturge-Weber Syndrome

The life expectancy of a child suffering with Sturge-Weber Syndrome depends on the severity of the disease. Majority of children with Sturge-Weber Syndrome go on to lead a normal lifestyle. In case if a child is significantly affected and there is severe involvement of the brain then the life expectancy gets reduced due to the inherent complications of brain involvement like lung complications and frequent infections, although with the advancement of medical science and with ongoing research this can also be increased. The prognosis of a child with Sturge-Weber Syndrome is also affected by the presence of seizure disorder and whether it is kept under control with appropriate treatment.

Despite the variety of treatment to control symptoms and complications, children with Sturge-Weber Syndrome tend to have some kind of disability still with them, one of which is learning disability which in some cases is mild and in some cases severe. A study conducted showed that there is a distinct relationship between seizures and learning disability. The study which was conducted showed the following results:

  • Developmental Delays: This was found in 45% of children who had seizure disorder and those without seizure disorder did not have any form of learning disabilities.
  • Behavioral Disorders: This was present in more than 80% of children with seizures and approximately 50% of children without seizures;
  • Special Education Needs is required in 40-45% of children with seizures and not required in children without seizures;
  • Workability: The study showed that 45% of people with Sturge-Weber Syndrome and seizures were able to be gainfully employed and 50% with Sturge-Weber Syndrome without seizures were able to be gainfully employed.

Hence the chances of a child having some form of disability is more when the child is suffering from seizure disorder than those children who do not have seizure disorder along with Sturge-Weber Syndrome.

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: October 5, 2016

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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