Sturge Weber Syndrome | Causes, Symptoms & Treatment

Recently Updated On: June 25th, 2018

Sturge Weber SYNDROME

Sturge Weber Syndrome

Sturge Weber syndrome which is also referred to as encephalotrigeminal angiomatosis is a rare, neurological disorder and is often associated with port wine stains of forehead, scalp, or around the eye.

Sturge Weber syndrome disorder occurs in every 20000 to 50000 births, that is 1 in every 1000 babies is born with Sturge Weber syndrome. Let’s discuss further this disorder.

Sturge Weber Syndrome Causes:

It is vital to know about the Sturge Weber syndrome causes. The blood vessel formations start when a baby is in the womb.

These blood vessels are associated with the syndrome. In the sixth week of development during pregnancy, the network of nerves develops that form the baby’s head.

In normal babies, this network goes away. But it doesn’t disappear in the babies who have Sturge Weber syndrome.

This results in the reduction of oxygen in the brain and as a result affect brain tissue development.

Sturge Weber Syndrome Symptoms:

The presence of port wine stain is the most common symptom of Sturge Weber syndrome. The most important point to keep in mind here is that not everyone with a port wine stain has Sturge Weber syndrome.sturge-weber-syndrome-symptoms

But whoever has the Sturge Weber syndrome has a port wine stain. Other than this, other this syndrome symptoms that are noticed, are:

  • Seizures
  • Hemiparesis
  • Soft tissue hypertrophy
  • Macrocephaly
  • Weakness On One Side Of The Body
  • Developmental Delays
  • Visual loss
  • Cognitive Impairment
  • PWS
  • Paralysis

Sturge Weber Syndrome Inheritance:

sturge-weber-syndrome-hereditary

It is a clearly stated fact that Sturge Weber syndrome is not inherited. It is because of the mutation. This mutation occurs after the mother has conceived.

The mutation occurs in a cell during early development of before birth. Hence, it is never because of inheritance and you can be assured that the syndrome inheritance is not possible.

Sturge Weber Syndrome In Adults :

This is a birthmark, so we know that this occurs at the time of birth. But if not treated early, it stays in adults as well.

So what about the adults with Sturge Weber syndrome? Since the syndrome appears at the time of birth, or slightly after that, the treatment of this disorder can be done.

In adults, however, the treatment takes a lot of time to show its effect. A proper medical care is required to get it treated.

Sturge Weber Syndrome Genetics:

Not inherited though, Sturge Weber syndrome genetics plays a major role. GNAQ R183Q mutation is predominantly found in the malformed blood vessel cells of the child’s brain with this syndrome.

These mutated cells that are also known as endothelial cells are generally responsible for triggering neurological dysfunction in people with Sturge-Weber.

This mutation of genes is known as somatic mutation and genes in one cell are altered during a person’s development. As a result of this, it spread in the entire cell division.

Sturge Weber Syndrome Life Expectancy:

Sturge Weber syndrome life expectancy though is normal, yet it may vary from person to person. It is not life-threatening syndrome.

If the symptoms are diagnosed early and are treated well, the quality of life of the person affected by Sturge Weber syndrome relatively improves.

Sturge Weber Syndrome Treatment:

sturge-weber-syndrome-treatment

After knowing the symptoms, causes and other relevant details about the disorder, it becomes essential to know about the Sturge Weber syndrome treatment now.

As for the treatment of Sturge Weber syndrome, laser treatment is only used to lighten the stain.

Most infants with this syndrome develop convulsive seizures during their first year of life. For this purpose, anticonvulsants medications may be used to control seizures.

There may be people with drug-resistant seizures and they are treated by surgical removal of epileptic brain tissue.

In serious cases of glaucoma, surgery is a better option. So your Sturge Weber doesn’t go untreated.

Sturge Weber vs Port Wine Stain

We read above that Sturge Weber is a serious complication of port wine stain. But to be clear about the differences, let’s find out about port wine stain Vs Sturge Weber.

While port wine stain is because of the swollen blood vessels around the area, Sturge Weber is caused by an overabundance of capillaries near the surface of the skin.

However, port wine stains are not harmful to health but often come with serious complications.

Sturge Weber, on the other hand, can affect brain tissue development. To diagnose Sturge Weber, CT Scan and MRI Scans are necessary.

Above we have tried our best to differentiate between port wine stain and Sturge Weber syndrome. We already define the difference between port wine stain and Nevus Simplex. We hope this enlightens you about these blotches and helps you get them treated before time.

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