Children With Sturge Weber Syndrome Can Develop Convulsions And Stroke
Question: Our granddaughter was born a few months ago. When we saw her shortly after birth, we were shocked to see a large red birthmark on the right side of her face. We have never seen anything like that before. Her doctor said that she has a medical condition called Sturge Weber Syndrome. Since then, she has seen many specialists around the country. The eye specialist put her on a medicine within two weeks of age. They have tried some laser treatment on her birthmark, but it hasn’t made much difference as yet. From what we have read, we are worried about her future. Worst of all, we are upset about strangers staring at her. We don’t know how to deal with that. Please give us some advice.
Sturge Weber Syndrome (SWS) is one of those medical conditions that carries an obvious birthmark. It is no wonder that you find it difficult to deal with people staring at her or say some hurtful remarks.
Before I go on any further, let me briefly explain what is not SWS, so that other readers won’t run to their doctors with little birthmarks on their children’s body and panicking about the worst possible scenario.
Many babies are born with small red birthmarks over or between their eyes, which are called ‘angel kisses.’ Others have similar ones on the back of the neck, just below the head, and they are called ‘stork bites.’ Both of these are minor defects in blood vessel development, and go away within months after birth. They are not associated with any problem whatsoever.
Some children are born with birth marks called strawberry haemangiomas, which can be large or small, and can occur over any part of the body. These haemangiomas are bright red and raised at birth. As they get older, small white scars are seen scattered over the birthmark, giving it the appearance of a strawberry. They are almost always harmless and will completely scar over in the first few years of life.
The birthmark of SWS is very different. It is bright red in colour and slightly raised above normal skin. It usually covers one side of the face, although it can be present on both sides. It almost always involve the scalp and the eyelids, although it can affect the cheek, the lips, as well as the chin. Sometimes it is present inside the mouth also. In some children, it can affect the trunk and the limbs. Although the birthmark is described as ‘port-wine stain’ because of its colour, it has nothing to do with any wine that the mother might have consumed during the pregnancy.
SWS is a rare condition. There is no known cause for it. It can happen in any ethnic group, and affects both boys and girls. Genetic research so far has not identified any link with defective genes.
Although we still don’t completely understand why SWS happens to some children, we do know that it is caused by abnormal development of blood vessels in the skin, the eyes, and the brain.
Underneath our skin, there is a network of blood vessels called capillaries where oxygen diffuses from the blood into the tissues. These capillaries are very small and can only be seen under a microscope.
In children with SWS, these capillaries are abnormally distended and swollen with blood, which circulates at a much slower rate than normal. Because more blood is collected in these dilated capillaries, the skin become very red and warm to touch, giving rise to the ‘port-wine stain’ that is characteristic of SWS.
Over time, the affected skin can grow darker and thicker, and develop a lumpy appearance which can bleed easily. As a result, it is worthwhile to use laser treatment to reduce the severity of the skin condition. This treatment should be started early in life, although results are not always predictable.
Unfortunately, the skin is not the only organ that is affected by these abnormal blood vessels. Between our skull and the brain, there is a layer of tissue called leptomeninges. It has a rich network of blood vessels and capillaries that bring oxygen to our brain cells. They are also affected in children with SWS, resulting in sluggish blood flow and reduced oxygen supply to the brain underneath. As a result, over time, brain cells will die and scars will form in the brain of many children.
Because of a lack of oxygen, some children will have stroke-like symptoms when they lose the function of one or more parts of their body. Many children also suffer from convulsions which can be difficult to control. Although scans are available to examine the brain in greater detail than ever before, it is still very difficult to predict which child, and when, convulsions will happen.
At the beginning, children with SWS develop in a normal fashion like all other children. However, because of the lack of oxygen to the brain from sluggish blood flow, which can be further compromised by convulsions, some children can have significant delay in their development and may have difficulty learning.
Besides skin and the brain, the eyes are often involved in children with SWS. The abnormal blood vessels can grow inside the eyes of these children. Glaucoma, a condition caused by increased pressure in the eye, can affect as many as 70% of children with SWS, sometimes even before they are born. Therefore, it is most important that they see an ophthalmologist (eye specialist) shortly after birth to determine whether the pressure is increased in order to prevent damage to the eyes. Some of these children may require surgery at an early age to correct this problem.
As you can see, I did not detail every possible thing that can happen to children with SWS. Many of them do very well, although they may have to deal with convulsions or have to take medications. The best that parents and family can do is to support these children, and make sure that they receive the best possible care. It is important to coordinate the care with her family physician or paediatrician, since she needs to see so many specialists.
There is very little that you can do to avoid the staring eyes of strangers because her birthmark is so obvious. If any curious stranger asks, the best way to say is that she has a birthmark, and leave it that way. For those who seem to care, and want to know more, then you can try to explain to them about Sturge Weber Syndrome, and what it means. When your granddaughter gets older, it would be useful to let her explain about her own medical condition.
Finally, you need to realize that this is your family’s private information, and no one has the right to know about it. The only exception is her caretakers and her teachers. They need to know that she may develop convulsions, and how to deal with it when it happens. These children can still lead a full life, although they need the support of their family members.