What Is Sturge Weber Syndrome

Overview

Sturge-Weber syndrome is a rare neurological disorder that is congenital (present since birth). Another name for Sturge-Weber syndrome is ‘Encephalotrigeminal Angiomatosis’.

Sturge-Weber syndrome is characterized by a specific birthmark on the forehead and upper eyelid on one side of the face, known as a ‘Port-Wine stain’. The colour of the birthmark varies from light pink to a dark purple stain. This birthmark is a result of an excessive number of capillaries (small blood vessels) present around the trigeminal nerve and found just beneath the surface of the face. 

Pathological signs of Sturge-Weber syndrome include abnormal blood vessels on the surface of the brain, loss of brain volume (atrophy),  and build up of calcium (calcification) within the cerebral cortex, all of which occurs on the side of the birthmark.  

Causes of sturge-weber syndrome

A mutation in the GNAQ gene will result in Sturge-Weber syndrome. This gene is responsible for providing instructions for making a protein known as guanine nucleotide-binding protein, which helps in regulating the signal for the pathway to aid in controlling the development and function of the blood vessels. 

Sturge-Weber syndrome is not inherited. The mutation of the GNAQ gene occurs randomly without any known reasons. 

Signs and symptoms of sturge-weber syndrome

There are a wide variety of symptoms seen in Sturge-Weber syndrome, which are listed here:

1. Port Wine stains or nevus flammeus:- A birthmark that is present at birth. The colour of the birthmark varies from light pink to deep purple, depending on the overabundance of the blood vessels present beneath the affected surface of the face. The purple wine stain is present on one side of the face where there is a distribution of the trigeminal nerve.
2. Neurological features:- There is the presence of angioma, which is excessive growth of the blood vessels present at the time of birth. Seizure, which is the twitching of a small part of the body, is also seen in patients. Epilepsy is associated with many patients with Sturge-Weber syndrome. Neurological injuries may be caused by prolonged seizures. In some of the cases, patients may feel weakness on the side opposite to the port-wine stain.
3. Headaches. 
4. Eyes:- Glaucoma, which is an increase in pressure within the eyes, is present in patients with Sturge-Weber syndrome. Glaucoma occurs due to mechanical obstruction of the angle of the eyes. If the glaucoma is untreated, it may result in decreased vision and blindness at later stages. 
5. In some cases of Sturge-Weber syndrome, patients may present with Buphthalmos, which is an enlargement of the coating of the eyes (also known as the cornea). 
6. Sturge-Weber syndrome involves changes to the oral mucosa of the mouth. Purple vascular hyperplasia is present. The vascular hyperplasia may also result in gingival enlargement inside the oral cavity.
7. Hypothyroidism. 
8. Developmental delays.
9. Migraines. 

Management and treatment for sturge-weber syndrome

There are a wide variety of treatment options for Sturge-Weber syndrome - the type of treatment depends on the patient’s symptoms

The birthmarks seen in Sturge-Weber syndrome patients are permanent and will not disappear without any treatment. Hence, treatments used for port-wine stain are:

1. Cosmetic correction: As port-wine stain is unpleasant to look at, hence it should be treated for cosmetic correction. The lesion can be covered with the help of camouflage makeup prescribed by a dermatologist. 
2. Laser: Laser treatment can be done to lighten and remove port-wine stains. This method is preferable when the port-wine stain is small in size. 

If seizures are one of the symptoms experienced by the patients of Sturge-Weber syndrome, then it should be treated with the help of:

1. Anticonvulsant drugs are prescribed to patients to control seizures.
2. If the seizure occurs only in one part of the brain, more commonly seen in the occipital regions, is treated with the help of focal resective surgery.
3. A Hemispherectomy is performed when there is an abnormality involving the whole hemisphere and generating a seizure.
4. If the above-mentioned surgeries cannot be performed in the patient of Sturge Weber syndrome then Vagus nerve stimulation is performed, which is responsible for sending electrical impulses for stopping the seizure to the brain, before the beginning of the seizure.  

Other treatment options for Sturge-Weber syndrome are:

1. Eye examination should be performed regularly for the detection of glaucoma.
2. Antiglaucoma medications. Topical antiglaucoma therapy for an extended period of time is helpful.
3. Physical therapy is performed for muscle weakness. 
4. Due to Sturge-Weber syndrome, haemorrhage can be performed inside the oral cavity. Hence, it should be managed carefully in the dental office.
5. In case of intellectual disabilities or developmental delays, special education should be provided.  

Diagnosis

The first step in diagnosing Sturge-Weber syndrome is often noticing and examining the port-wine stain present at the time of birth by a healthcare provider. Some of the tests are performed on the brain and eyes of the babies born with the port-wine stain birthmark to check for Sturge-Weber syndrome. The tests may include:

1. Conventional radiography: Conventional radiography shows a classical appearance that’s tramlines or wagonette-tram-track or trolley-tract calcification in the skull.
2. MRI of the brain of the babies can be performed with or without contrast for diagnosing Sturge Weber syndrome.
3. Computed tomography (CT scan): The CT scan is helpful for showing calcification. It can also help to clearly show the evidence of brain atrophy, ipsilateral choroids, plexus enlargement, and abnormal draining veins.
4. Angiography: it demonstrates a lack of superficial cortical veins, non-filing of dural sinuses, and abnormal tortuous vessels.  
5. Electroencephalogram (ECG): is performed in children having symptoms of seizure in the Sturge-Weber syndrome.
6. A comprehensive eye examination is performed to detect glaucoma. 
7. Other imaging modalities like SPECT and Positron emission tomography (PET) can also be useful for the diagnosing of Sturge-Weber syndrome.

FAQs

How can I prevent sturge-weber syndrome?

A mutation in the GNAQ gene will result in Sturge-Weber syndrome. The mutation of the GNAQ gene occurs randomly without any known reasons. Hence, there is no known way to prevent Sturge-Weber syndrome from occurring.

How common is sturge-weber syndrome?

Sturge-Weber syndrome is a rare neurological disorder that is congenital (present since birth). It is very rare to occur, that is, 1 in every 20,000 to 50,000 newborn babies. Neurological symptoms may be present along with Sturge Weber syndrome in only 6% of the babies who are born with the port-wine birthmark.

Who is at risk of sturge-weber syndrome?

While the exact cause of Sturge-Weber syndrome is not yet fully understood, it is believed to occur sporadically and is not typically inherited.

The syndrome is thought to arise due to somatic mutations that occur randomly during early embryonic development, affecting the development of blood vessels in the brain, face, and eye. As such, the risk factors for Sturge-Weber syndrome are not clearly defined. However, there are a few factors that have been associated with an increased risk:

• Gender: Sturge-Weber syndrome affects males and females equally.
• Age: The syndrome is typically present at birth or becomes apparent during infancy. In some cases, it may not be diagnosed until later in childhood or even adulthood.
• Family History: Sturge-Weber syndrome is mostly sporadic, meaning it occurs without a family history of the condition. However, rare cases of familial occurrence have been reported, where the syndrome is inherited in an autosomal dominant manner.

What can I expect if I have sturge-weber syndrome?

There are a wide variety of symptoms seen in the Sturge-Weber syndrome, which are as follows:

1. Port-wine birthmark is present since birth. The colour of the speckle varies from light pink to deep purple. The purple wine stain is present at one side of the face where there is the distribution of the trigeminal nerve
2. Headaches
3. Migraine
4. Glaucoma, which is an increase in pressure within the eyes, is present in the patients of Sturge-Weber syndrome
5. Hypothyroidism
6. Developmental delays
7. Buphthalmos, which is an enlargement of the coating of the eyes (the cornea), may be present in Sturge-Weber syndrome patients
8. There is the presence of angioma, which is excessive growth of the blood vessels present at the time of the birth
9. Seizure, which is the twitching of a small part of the body, is also seen in patients
10. Epilepsy is associated with maximum patients of Sturge-Weber syndrome
11. Sturge-Weber syndrome involves oral mucosa in the mouth, which leads to vascular hyperplasia, which appears purple in colour. The vascular hyperplasia may also result in gingival enlargement inside the oral cavity

When should I see a doctor?

It is recommended to see a doctor if you or someone you know exhibits any signs or symptoms that could be indicative of Sturge-Weber syndrome or any other medical condition. Then are some situations when you should consider seeking medical attention:

• Birthmarks or Port-Wine Stains: If you or your child has a birthmark, particularly a port-wine stain, on the face or head, it is advisable to consult a doctor for further evaluation. Port-wine stains that are associated with Sturge-Weber syndrome typically appear on one side of the face
• Neurological Symptoms: Sturge-Weber syndrome can involve the brain and lead to neurological symptoms such as seizures, developmental delays, muscle weakness, visual problems, and intellectual impairment. If you or your child experiences any of these symptoms, it is important to seek medical advice
• Eye Abnormalities: Sturge-Weber syndrome can affect the eye, causing glaucoma (increased pressure within the eye), visual disturbances, or other eye abnormalities. If you notice any changes in vision or eye-related issues, it is advisable to see an eye specialist (ophthalmologist) for evaluation
• Concerns or Questions: If you have any concerns, questions, or a family history of Sturge-Weber syndrome, it is always appropriate to consult with a healthcare professional. They can assess the situation, provide guidance, and refer you to the appropriate specialists for further evaluation if necessary

Summary

Sturge-Weber syndrome is a rare neurological disorder that is congenital (present since birth). The other name for Sturge-Weber syndrome is ‘Encephalotrigeminal Angiomatosis’. Sturge-Weber syndrome is characterized by a specific birthmark on the forehead and upper eyelid on one side of the face that is a ‘Port-Wine stain’. There are many neurological symptoms and many other symptoms associated with Sturge-Weber syndrome, which are listed above. The Sturge-Weber syndrome is managed and diagnosed as mentioned above in the article.