Sturge-Weber Syndrome

What is Sturge-Weber syndrome?

Sturge-Weber syndrome is a rare congenital disease which may occur in roughly one out of every 20000 to 50000 babies born. Sturge-Weber syndrome is a problem in the growth of blood vessels which affect areas around the skin, eyes and brains. Blood vessels make grow abnormally large and cause staining of the skin in face.

Large blood vessels can form a growth known as angioma. If it is formed in the brain, it might lead to defective blood flow of the area. This can lead to neurological problems. The most distinctive feature which will appear in a newborn baby is a port wine birthmark or staining of the face and scalp. If this is seen in a baby, Sturge-Weber syndrome is considered. Doctors will look for other signs that can help in early diagnosis to help effective treatment.

What can cause Struge-Weber syndrome in my child?

Sturge-Weber syndrome is caused due to a genetic mutation. The gene which is involved is known as the GNAQ gene. It is not passed on from the parent to the child. The mutation occurs during the early fetal development stage.

How can I recognise if my child has Struge-Weber syndrome?

The most common characteristic of a child suffering from Sturge-Weber syndrome is a port wine stain. This is a dark red coloured birthmark which is usually present on one side of the face but can also be present on the neck and other parts of the body. At birth, this mark is pink but it gradually darkness and thickens. If your child has a port wine stain, there may be a slim chance of the child having Sturge-Weber.

If your baby has seizures, looks mostly in one direction or prefers one hand for activity; it will also point towards Sturge-Weber. It is important to note that there are other conditions as well which can cause these signs and symptoms. Only careful evaluation after consultation with a doctor can decide whether or not your child is suffering from this syndrome.

What problems will my child face if suffering from the Struge-Weber syndrome?

Abormal development of blood vessels of the face and brain can lead to a number of problems in your child. Your child can face issues such as:

• Development of Port wine stain on the face, neck or other parts of the body
• Development of glaucoma at the young age
• Eye problems and loss of vision
• Presence of seizures
• Learning disability
• Development of weakness on one side of the body
• Sometimes the child may even be paralyzed

Which doctors will I need to consult?

Effective treatment of Sturge-Weber syndrome will need a team of multispeciality doctors which can include doctors from pediatrics, dermatology, neurology, neuro surgery, ophthalmology and vascular abnormalities.

How can I help my child?

• You can learn about Sturge-Weber syndrome.
• You should talk to your child’s doctor and try to understand what problems may develop and how to handle them. You should also try to understand what treatment maybe available.
• You should get proper care for your child. Do not miss appointments with your doctor and ensure regular check ups.
• As kids grow older, they might be curious about port wine staining on their skin. You should be honest with them and tell them that it is the birth mark. You should not portray it as a weird thing to be ashamed of but instead help see them as it is a natural part of the body.
• You should be accepting your child. It is not necessary that your child will have a poor self image but if at times they show frustration about their appearance try to be understanding and supportive.