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What Is Sturge-Weber Syndrome?

Medically Reviewed by Poonam Sachdev on October 10, 2022

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What Is Sturge-Weber Syndrome?

Sturge-Weber syndrome is a congenital condition that may affect your skin, brain, eyes, and nervous system. Congenital conditions are conditions you're born with.

Sturge-Weber syndrome causes your blood vessels to grow more than they should. As a result, many babies with Sturge-Weber syndrome have angiomas. Angiomas are benign (noncancerous) growths of blood vessels or lymphatic vessels. On the skin, these often appear as bright red dots or spots. 

Angiomas can also grow in the brain. When this happens, it can lead to issues with your:

  • Endocrine system. The endocrine system is the system of glands and organs responsible for the production and release of hormones.
  • Nervous system. The nervous system is the complex network of nerves throughout your body.
  • Vision. Angiomas in the brain can lead to issues with vision and sight.

The first sign of Sturge-Weber syndrome in many newborns is a port-wine stain birthmark on the upper part of the face. Like angiomas, this is caused by an overgrowth of blood vessels in the skin. In small children, port-wines are usually flat and pink. As the child gets older, the color may darken to a deep red or purple.

Sturge-Weber Causes

The cause of Sturge-Weber syndrome is a mutation of the GNAQ gene in utero. The GNAQ gene helps regulate the development and function of blood vessels. These mutations are random. They're not genetic, and you can't inherit Sturge-Weber syndrome from your parents.

Sturge-Weber syndrome is relatively rare. It’s estimated that somewhere between 1 in 20,000 and 1 in 50,000 newborns have Sturge-Weber syndrome. About 3 in 1,000 babies have a port-wine stain birthmark, and of those, only about 1 in 20 have neurological conditions as well.

Sturge-Weber Symptoms

Sturge-Weber syndrome can have many different symptoms aside from the facial birthmark. The symptoms you may experience depend on if there are angiomas in your brain and what systems those angiomas affect. 

Endocrine system symptoms. The endocrine system monitors hormones, and hormones send messages to areas of the body that control growth, metabolism, mood, and sexual function. Endocrine disorders caused by Sturge-Weber syndrome may include:

  • Growth hormone deficiency. Growth hormones are the hormones that tell our bodies to grow taller. Patients with growth hormone deficiency may be short in stature with normal body proportions. Slowed growth, delayed sexual development, and headaches may also happen with growth hormone deficiency.
  • Hypertrophy. Hypertrophy is the overgrowth of organs or tissue. In patients with Sturge-Weber syndrome, hypertrophy may happen in the soft tissues beneath the port-wine birthmark. 
  • Hypothyroidism. Hypothyroidism is a condition in which the thyroid doesn’t make enough hormones. In patients with Sturge-Weber syndrome, this happens because your brain doesn’t send enough thyroid-stimulating hormone, the hormone that tells your thyroid to do its job. 
  • Lymphatic malformations. Lymphatic malformations are collections of lymphatic fluid within your soft tissue. They're caused by problems in the development of your lymphatic system.
  • Macrocephaly. Macrocephaly is a condition in which your head grows abnormally large.

Nervous system symptoms. The nervous system includes the brain, spinal cord, and the nerve impulses they send out. Neurological conditions caused by Sturge-Weber syndrome include:

  • Developmental delays and intellectual disabilities. Developmental delays and intellectual disabilities caused by Sturge-Weber syndrome fall on a wide spectrum. Some children may have mild disabilities, while others have severe cognitive deficits. Children who also experience seizures are more likely to have more severe disabilities.  
  • Headaches and migraines. Angiomas that affect your nervous system may lead to headaches and migraines. 
  • Mood disorders. Mood disorders include conditions like depression and bipolar disorder. These are more common in Sturge-Weber syndrome patients who have a higher frequency of seizures or who have low cognitive function. 
  • Muscle weakness or paralysis. Weakness in muscles or the inability to use certain muscles can result from angiomas in the brain and from seizure activity. This is usually confined to the opposite side of the body to the area of the brain with the angioma. The area of the brain with the angioma is often the same side of the body as the port-wine stain birthmark.
  • Seizures. Seizures are uncontrolled electrical disturbances in your brain, and they're common in patients with Sturge-Weber syndrome. They often happen on the opposite side of the body as the area of the brain with the angioma, but may also affect the whole body. Early seizure onset as well as seizures that affect both parts of the brain are linked to lower cognitive function. Symptoms include anxiety, fear, loss of consciousness, and involuntary jerking of the arms and legs.
  • Strokes. Strokes happen when something cuts off the blood supply to your brain, preventing it from getting oxygen. This can lead to brain cell death. Symptoms of a stroke happen suddenly and include confusion, dizziness, headache, numbness, trouble seeing, trouble walking, and weakness. 

Vision symptoms. Vision symptoms may be caused by neurological problems. Common vision conditions associated with Sturge-Weber syndrome include:

  • Angioma formation in the eye. Angiomas can form within the membranes on the inner surface of the eyelid, on the blood vessels and tissue between the retina and the white of the eye, and on the cornea, the transparent layer at the front of the eye. 
  • Clouded or displaced lenses. The lenses within your eyes filter and focus light so you can see. A clouded or displaced lens can cause blurred vision or loss of vision.
  • Glaucoma. Glaucoma is a group of conditions that can damage the optic nerve. The optic nerve is the nerve that runs from your eyes to your brain. It can result in blurry vision or vision loss.
  • Heterochromia. Heterochromia is a condition where the irises, the colored part of the eye, are a different color in each eye.
  • Optic atrophy. Optic atrophy is a condition in which part of the optic nerve dies. This can cause vision loss.
  • Retinal detachment. Retinal detachment happens when the retina, a thin layer of tissue at the back of the eye, is pulled away from its normal position. This can lead to blurry and reduced vision.

Sturge-Weber Diagnosis

If a baby is born with a port-wine stain birthmark, the doctor may want to check for problems with their brain and eyes. Tests that the doctor may run may include:

  • CT scan to check for calcium deposits
  • EEG for children with seizures
  • Eye exam to check for possible vision problems
  • MRI of the brain

Sturge-Weber Treatment

The treatment for Sturge-Weber syndrome will depend on what symptoms you’re experiencing and their severity.

Port-wine birthmarks. Laser skin resurfacing is the common choice to remove or fade port-wine birthmarks.

Seizures. Treatment for seizures may include anti-seizure medications or surgery in the area of the brain that causes the seizures.

Glaucoma. Treatment for glaucoma may include frequent eye exams, eye drops, medications, or surgery.

Other treatment options may include supportive help for children with cognitive difficulties, physical therapy for muscle weakness, and medication for migraines.

Show Sources

SOURCES:
American Academy of Ophthalmology: “Lens,” “Optic Atrophy.”
Centers for Disease Control and Prevention: “About Stroke.”
Cleveland Clinic: “Cherry Angioma,” “Nervous System,” “Sturge-Weber Syndrome.”
Johns Hopkins Health: “Anatomy of the Endocrine System,” “Growth Hormone Deficiency.”
Mayo Clinic: “Glaucoma,” “Hypothyroidism (underactive thyroid),” “Mood disorders,” “Retinal detachment,” “Seizures.”
Mount Sinai: “Port-wine stain.”
National Organization for Rare Disorders: “Sturge Weber Syndrome.”

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