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Struge Weber Syndrome

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Overview of Struge Weber Syndrome

Sturge - Weber Syndrome or SWS is a neurological disorder characterized by a port-wine stain on the forehead, scalp, or around the eyes. This stain is basically a birthmark and is caused by an overabundance of capillaries near the surface.  

Neurological or eye abnormalities can also cause SWS. The abundance of capillaries can also affect the blood vessels on the same side of the brain as the stain. People with SWS usually also experience convulsions or seizures. 

Some other effects of Sturge - Weber Syndrome may include feeling pressure in the eye, some developmental delays, and general weakness in the whole or on one side of the body. 

According to the National Organization for Re Disorders, SWS occurs in one of 20,00- 50,000 live births. According to an estimate, one in every 1,000 babies has this port-wine stain but only 6 percent of those babies have other symptoms of SWS. 

Signs and Symptoms of Struge Weber Syndrome

The most common symptom of SWS is a port-wine stain or red and somewhat discolored patch on one side of the skin. This discoloration is basically due to dilated blood vessels. These blood vessels make the skin appear reddened.  

Everybody with a port-wine stain does not have SWS but everyone with SWS has a port-wine stains 

Abnormal vessels may not affect some children, but in other more sensitive children, they may exhibit these symptoms:

  • Developmental Delays 
  • Cognitive impairment 
  • Seizures 
  • Weakness in body 
  • Paralysis  

Eye abnormalities like Glaucoma increase pressure in the eye. This can also cause SWS which can lead to vision impairment, light sensitivity, and eye pain. As SWS is a neurological disorder it can lead to serious conditions like seizures, behavioral issues, headaches, migraines, and other eye abnormalities. 

Types of Struge Weber Syndrome

Causes of Struge Weber Syndrome

SWS is caused by a somatic mutation in the GNAQ gene. This occurs in the very early stage of the embryo. Researchers are yet to find the exact cause of GNAQ gene mutation.  

Under normal circumstances in the sixth week of a baby’s development, a network of nerves starts developing sound in the area that would be his/her head. This network of nerves goes away in the ninth week. But for the SWS babies, this network of nerves doesn’t get away. This reduces the amount of blood flow to and from the brain. This limited oxygen supply can affect brain tissue development.  

Happniness

Risk Factors of Struge Weber Syndrome

Risk Factors and Complications of Sturge - Weber Syndrome

  • Abnormal blood vessel
  • Development delays in babies 
  • Emotional and behavioral problems 
  • Glaucoma 
  • Paralysis 
  • Seizures

Happniness

Prevention

Happniness

Diagnosis

Doctors usually diagnose this disease based on the symptoms that your child might be showing. Babies with SWS may not immediately show a pot-wine stain but usually, they develop a birthmark right after birth. 

To confirm the presence of this disorder, your doctor might also suggest some imaging tests like CT scans and MRI scans. These scans help the doctor determine any sign of brain damage. Sometimes, the doctor might also recommend eye tests to rule out eye abnormalities like glaucoma.

Treatment of Struge Weber Syndrome | When to Consult a Doctor

Your doctor (pediatric neurophysician) will determine the exact treatment of this disorder based on your condition. Some possible treatments may include: 

  • Medication to reduce seizures.
  • Eye drops relieve eye issues and eye pressure.
  • Surgery to reduce glaucoma symptoms. 
  • Some physical therapy to reduce muscle weakness. 
  • Educational therapies can also help your child, in case of any developmental delays. 

In case you exhibit any concerning signs and symptoms, consult a medical professional as soon as possible.

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