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Sturge-Weber Syndrome

Sturge-Weber syndrome, also called as ‘encephelotrigeminal angiomatosis’ is a disorder which is present from birth, but is not inherited.

Sturge-Weber syndrome is an uncommon disorder and some features of this syndrome include anomalies of the nervous system and a congenital birthmark on the face. However, research studies show that skin injuries may occur due to changes or mutations in gene/genes whose names and types are not known as yet. The patients may also elicit symptoms which include ocular problems and irregularities in the internal organs. Every case of this disorder is unique and different from each other.

Symptoms of Sturge-Weber syndrome

One of the most common symptoms of Sturge-Weber syndrome are port wine stains on the face of the baby.  This is situated usually next to or around the forehead and eyes, and the stains’ color may change from red to dark purplish. Still, in rare cases, a Sturge-Weber syndrome affected baby may not have this port wine stain on the face.

Some other symptoms are as follows:

  • Hemiparesis: It is paralysis or weakness of one part of the body. It occurs on that of the body that is opposite to the area with the port wine stain.
  • Angiomas: These are soft tumors that affect the external part of the brain resulting in seizures.
  • Glaucoma and delayed development process: This damages the optic nerve on the side of the facial stain.
  • Learning disabilities

It is not necessary that a baby having a port wine stain on the face will suffer from nervous anomalies. It has been observed that eight per cent of the children with a port wine stain on the face do not have nervous system problems.

Some complications of Sturge-Weber syndrome are listed below:

  • Delays in development
  • Behavioral and emotional problems
  • Abnormal growth of the blood vessel in the skull
  • Seizures
  • Port-wine stains that keep growing steadily
  • Paralysis
  • Blindness can occur because of glaucoma

Types of Sturge-Weber syndrome

The different types of Sturge-Weber syndrome are as follows:

  • Type 1: It is a common kind of Sturge-Weber syndrome. Type 1 entails brain, facial, and vascular malformation and can also involve glaucoma. Since the brain is involved, seizures may start in the 1st year of life and along with it ocular anomalies are also visible in the 1st year. Due to the over-proliferation of blood vessels in the eye, the white section of the eye can look reddish and bloodshot. In some rare cases leptomenigeal and facial involvements are bilateral. Physical and mental developmentmay be damaged to varying degrees. It depends upon the level of vascular birthmarks all over the affected patient’s eye and brain.
  • Type 2: Diseases such as facial angioma and chances of glaucoma are visible in Type 2. However, there may be no proof of intracranial diseases. No time-frame is given for display of signs and symptoms besides the early diagnosing of the facial PWS. In the affected patient’s entire life consistent symptoms can be seen in the form of headache, glaucoma, abnormal cerebral flow of blood, and many other associated problems. Additional tests, research, and studies have to be carried out,as and when required, so as to decide on the process of the syndrome as it progresses naturally.
  • Type 3: In this category of Sturge-Weber syndrome, the patient may suffer from a leptomeningeal angioma, without any facial involvement and mostly with no formation of glaucoma. It is usually known as ‘forme frusta’ and is detected with the help of many brain scans. At times, this Type of Sturge-Weber syndrome may be misunderstood or confused with other diseases, before a brain scan with contrasting agents is carried out.

Causes

Tests for Sturge-Weber syndrome can include an MRI scan, CT scan and X-rays.

Doctors are unaware about the exact causes of Sturge-Weber syndrome. The condition is not considered as a hereditary disorder that is passed down in families. Errors in unknown genes or gene is thought to be the cause of the characteristic skin lesions.

Treatment  

There is no known cure for Sturge-Weber syndrome. Still, if the disorder is detected and treated early, then it can avoid unnecessary complications and enhance the life’s quality of the affected baby.

Some of the treatments as per the symptoms are as follows:

  • To control regular seizures, anticonvulsant medicines can be taken. It may bring relief to some extent. But in serious cases, epilepsy does not respond to such medical treatments. For this, usually surgical treatments are opted and given first preference.
  • Glaucoma can be treated through intake of drugs that reduce the fluid amount in the eyes or assist in draining the fluid from the eyes. Usually in severe cases surgery is done to improve the flow of fluid. Children with Sturge-Weber syndrome without glaucoma, need to have regular checkup to verify any development of glaucoma or amblyopia (lazy eye).
  • Port wine stains are mostly treated with pulsed dye laser therapy.
  • Physical therapy for muscle weakness.
  • Behavioral and educational therapy for developmental delay resolution.

Sturge-Weber Syndrome life expectancy

The life expectancy depends on the severity of the disease. Many children born with the syndrome can live a long and healthy life. But if the condition is more on the serious side, the life expectancy of the child with Sturge -Weber Syndrome can be reduced with problems caused due to infections, brain-related problems and complications in the lungs. The intensity of the seizures in the child can impact its prognosis, if the latter can be treated,the result is often good.

 Sturge-Weber Syndrome Pictures

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