Understanding Sturge-Weber syndrome

Our Sunday series on rare and little known disorders and disabilities focuses on Sturge-Weber syndrome. A spectrum of diseases, it can affect the eyes, skin, and brain of a person. Sometimes it affects all three systems.

Sturge-Weber syndrome has three major features – a red or pink birthmark called a port-wine birthmark, brain abnormality called leptomeningeal angioma, and increased pressure in the eye. This is a condition that affects the development of certain blood vessels, leading to abnormalities in the brain, skin, and eyes from birth.

In Sturge Weber syndrome (SWS), there is an  abnormal formation and growth of blood vessels within the two thin layers of tissue that cover the brain and spinal cord. This can affect one or both sides of the brain and reduce blood flow in the brain and lead to loss of brain tissue and deposits of calcium in the brain below the angioma. The reduction in blood flow can cause stroke-like episodes in people.

How Sturge-Weber affects patients

These stroke-like episodes can involve temporary muscle weakness on one side of the body, vision abnormalities, seizures, and migraines. These usually begin by the age of two. People with SWS have varying levels of cognitive function, from normal intelligence to intellectual disability. Some individuals have learning disabilities.

Types

SWS is broken by some experts into three main subtypes.

• Type 1 – Skin and neurological symptoms. Here, the person affected may or may not have glaucoma.
• Type 2 – Skin symptoms and possibly glaucoma. No sign of neurological involvement.
• Type 3 – Neurological involvement, without skin abnormalities. Glaucoma is usually not present.

Given the variable nature, informed and experienced care is important, something many families in India struggle for. For the Narayanswamys, whose son Vinayak has SWS, this has involved moving to different cities.

“In Vinayak’s case, there are calcifications in some parts of the brain and hence he is seizure prone”, says Geetha. This means functions related to that part of the brain are weak, she explains. “His fine motor skills are weak, as are speech/language skills”.

India Picture

Prevalence data of SWS in India is not available says Dr Mukesh Kumar, a neurologist at Max Hospital in New Delhi.

“The incidence in India is one in one lakh people. Typically most children with SWS get diagnosed when they get to a neurologist which is later as kids typically go to paediatricians. There is no question of surgery for children who are prone to epileptic seizures. – Dr Mukesh Kumar, Neurologist, Max Hospital

Treatment

There is no treatment for SWS, but people can take measures to treat the symptoms.

• Laser – To remove or lighten the birthmark.
• Anticonvulsants – To help prevent seizures. If these do not work, and the condition affects only one side of the brain, a surgeon may carry out a procedure to disconnect the affected part.
• Physical therapy – To strengthen muscles.
• Regular full eye tests – These are important as there is a high risk of glaucoma. This should continue until adulthood.
• Specialised education – This might be helpful if a child experiences developmental delays.

If you are looking for a support group, reach Sturge Webers in India on Facebook.

Also Read:

• #RareDiseases Campaign – Stories of everyday champions & organisations behind them

Read More – Medical News Today