Port-wine stain birthmark

Related Terms

Angioma, angiomatosis, anti-convulsants, buphthalmos, convulsions, epilepsy, glaucoma, hemiaropia, hemiplegia, neurological disorder, port-wine stain, status epilepticus, Sturge Weber syndrome.

Background

Sturge-Weber syndrome, also called encephalotrigeminal angiomatosis, is a rare brain disorder that causes seizures and other neurological symptoms, which may include glaucoma, learning disabilities, intellectual disabilities (formerly called mental retardation), complete or partial paralysis of one side of the body, and muscle weakness. The severity and specific types of symptoms vary considerably among patients.
The condition is present at birth, and it is almost always characterized by a large port-wine stain birthmark that covers the forehead and at least one upper eyelid. This birthmark, which varies in color from light pink to dark purple, is made up of dilated blood vessels called capillaries. Patients also experience a loss of nerve cells and hardening of tissue in the cerebral cortex of the brain on the same side of the body as the birthmark.
Worldwide, about one out of 200-400 individuals are born with port wine stains each year. However, not all children with port wine stains have Sturge-Weber syndrome. Some research suggests that about one out of 50,000 people in the United States have Sturge-Weber syndrome.
Although the disorder is present at birth, it does not appear to be an inherited condition that is passed down among families. Researchers are currently performing studies to learn more about the potential causes of Sturge-Weber syndrome.
Symptoms can range from mild to severe, depending on how much of the brain is affected. Some individuals may have mild and infrequent seizures, while others may have more severe and prolonged seizures along with other neurological symptoms.
Although there is currently no cure for Sturge-Weber syndrome, it is not a fatal condition. Treatment focuses on reducing symptoms and improving the patient's quality of life.

Signs and symptoms

General: Symptoms of Sturge-Weber syndrome typically develop within the first year of life. The severity of symptoms varies among patients depending on how much of the brain is affected. Most patients have port-wine stains and experience seizures and glaucoma. However, individuals may experience any combination of symptoms listed below. In very rare cases, both sides of the brain may be affected, causing the most severe symptoms.
Port-wine stain birthmark (angioma): A large port-wine stain birthmark, also called an angioma, is typically the first sign of Sturge-Weber syndrome. This birthmark usually covers the forehead and at least one upper eyelid. In some cases, the birthmark may cover the side of the cheek, nose, or upper lip. In rare cases, both sides of the face may be affected. This flat birthmark varies in color from light pink to dark purple because it is made up of dilated blood vessels called capillaries. The birthmark itself does not cause any neurological problems in patients.
Seizures: Seizures occur in more than 60% of children with Sturge-Weber syndrome. Seizures usually begin during infancy and may worsen with age. Patients typically experience frequent partial motor seizures that cause convulsion to occur on the same side of the body as the birthmark. Prolonged seizures or a series of seizures without regaining consciousness in between (called status epilepticus) may also occur. This is considered an emergency that requires immediate medical attention. Over time, seizures may become more generalized, which means they involve larger areas of the brain.
Developmental/learning problems: Some patients may experience developmental delays and/or intellectual disabilities (formerly called mental retardation). An estimated 60% of children with Sturge-Weber syndrome have learning disabilities, which can range from mild to severe. The severity of learning difficulties increases with the intensity, frequency, and duration of seizures. Children with minor or no learning disabilities are more likely to experience milder seizures than those who have severe learning disabilities.
Paralysis and/or muscle weakness: After frequent or prolonged seizures, patients may experience paralysis and muscle weakness on the same side of the body as the port-wine stain. This type of paralysis, which affects just one side of the body, is called hemiplegia. The severity of muscle weakness and paralysis depends on the severity and frequency of seizures.
Vision impairment: Another common symptom is glaucoma, which occurs when there is increased pressure inside the eyeball. Glaucoma develops if the abnormal blood vessels involve the eye and prevent fluid from properly draining from the eye. Glaucoma may be present at birth, or it may develop later in life. In extreme cases, the pressure on the eye may cause the eyeball to enlarge and bulge out of its socket. This condition is called buphthalmos. Left untreated, glaucoma may cause permanent damage to the optic nerve and retinal fibers, which leads to a progressive and permanent loss of vision.
Vision impairment, unrelated to glaucoma, may also occur. As the patient continues to grow, weaknesses in the affected side of the body become more apparent. Many patients eventually suffer from vision loss or impairment on the same side of the weakness. This condition is called hemiaropia.

Diagnosis

Nearly all patients with Sturge-Weber syndrome have the characteristic port-wine stain birthmark. However, this mark alone is not enough to diagnose Sturge-Weber syndrome because it may indicate a similar condition called Klippel-Trenaunay-Weber syndrome. Therefore, individuals who have signs and symptoms of Sturge-Weber syndrome along with a port-wine stain are diagnosed with the condition.
In addition, imaging studies, including X-rays, magnetic resonance imaging (MRI) scans, and computerized tomography (CT) scans, may be performed. These tests take pictures of the brain. If the patient has Sturge-Weber syndrome, the affected part of the brain will usually become smaller than normal. Calcium deposits may also be visible in the abnormal blood vessels and brain.

Treatment

General: There is currently no cure for Sturge-Weber syndrome. Instead, treatment focuses on reducing symptoms of the disorder and increasing the patient's quality of life. The main focus is to reduce the severity and frequency of seizures. This is because uncontrolled seizures can worsen existing neurological symptoms or cause new symptoms to develop.
Anticonvulsants: Anticonvulsant medications may be used to control seizures. These drugs are typically taken once daily to help prevent seizures from occurring. Phenobarbital (Luminal? or Solfoton?) is one of the oldest and safest anticonvulsants for children. Valproic acid (Depakene? or Depakote?) has also been shown to be a safe and effective treatment for seizures in children. However, seizures caused by Sturge-Weber syndrome are often resistant to medication. In such cases, surgery may be considered.
Surgery: If seizures do not respond well to anticonvulsant medications, surgery may be considered. Surgical procedures have been performed to remove or disconnect part of the brain that is affected by the abnormal blood vessels. This type of procedure is often called a hemispherectomy or hemispherotomy. Although this treatment has been proven to be very effective, it is a very serious surgery that is associated with many risks, including brain damage. Therefore, individuals should discuss the potential benefits and risks of all procedures before making decisions about medical treatment.
Prescription eye drops: Prescription eye drops that reduce the pressure in the eyes are the first line of treatment for glaucoma. Some of the most commonly prescribed anti-glaucoma eye drops include timolol (Timoptic?), betaxolol (Betoptic?), dorzolamid/timolol (Cosopt?), latanoprost (Xalatan?), and bimatoprost (Lumigan?). Without treatment, the loss of vision usually worsens over the course of many months or several years.
Glaucoma filtration procedure (trabeculectomy): If glaucoma medications are not successful, a glaucoma filtration procedure (trabeculectomy) may be considered. The procedure is completed in the operating room, usually under local anesthesia. Some ophthalmologists will complete the procedure using an eye drop anesthesia. The goal of the glaucoma filtration procedure is to create a new passageway that allows fluids in the eyes to drain. As a result, this lowers the pressure inside the eye. The filter allows fluid to drain out from the inside the anterior chamber of the eye to a "pocket" created between the conjunctiva, which is the outermost covering of the eye, and the sclera, which is the underlying white anatomical structure of the eye. The fluid is eventually absorbed by blood vessels.
In many cases, medication to control scarring and prevent closure of the filtration site is applied to the eye during the operation or soon after. Medications, such as mitomycin C (Mutamycin?), may be used. Antibiotic and anti-inflammatory eye drop medications are continued after surgery for up to six weeks or more. In some cases, the surgeon will apply additional medicines to further prevent scarring and failure of the filter. The sutures may be cut up to several weeks after surgery. Eye drop medications for glaucoma are used after surgery for the first four to 10 weeks. Most patients are able to reduce their glaucoma medications after surgery. Some patients may not need any medications after surgery.
Although complications are rare, they may be serious. Possible complications may include: infection, bleeding, swelling in the retina, development of fluid under the retina (called choroidal detachment), retinal detachment, droopy eyelid, double vision, loss of vision, and loss of the eye.
Physical therapy: Patients who have muscle weakness may benefit from physical therapy. During therapy, a variety of methods, including exercises, stretches, traction, electrical stimulation, and massage, are used to help increase strength and flexibility in patients.
Education: Patients with learning disabilities or intellectual disabilities must have the option of receiving education that is tailored to their specific strengths and weaknesses. According to the Individuals with Disabilities Education Act, all children with disabilities must receive free and appropriate education. According to the law, members of the patient's school should consult with the patient's parents or caregivers to design and write an individualized education plan. Once all parties agree with the plan, the educational program should be started. The school faculty should document the child's progress in order to ensure that the child's needs are being met.
Educational programs vary among patients. In general, most experts believe that children with disabilities should be educated alongside their non-disabled peers. The idea is that non-disabled students will help the patient learn appropriate behavioral, social, and language skills. Therefore, some patients are educated in mainstream classrooms. Other patients attend public schools but take special education classes. If the disability is severe or profound, patients may benefit from specialized schools that are designed to teach children with disabilities.
Many patients with intellectual disabilities (formerly called mental retardation) need help improving their adaptive skills, which are needed to live, work, and function in the community. Teachers, parents, and caregivers can help patients work on their daily living skills, communication skills, and social skills.
Laser treatment: Laser treatment may be used to lighten or remove the birthmark. However, this treatment does not reduce the neurological symptoms of Sturge-Weber syndrome.

Integrative therapies

Note: Currently, there is a lack of scientific data on the use of integrative therapies for the treatment or prevention of Sturge-Weber syndrome. The integrative therapies listed below should be used only under the supervision of a qualified healthcare provider and should not be used in replacement of other proven therapies or preventive measures.
Good scientific evidence:
5-HTP: 5-HTP is the precursor for serotonin. Serotonin is the brain chemical associated with sleep, mood, movement, feeding, and nervousness. Cerebellar ataxia results from the failure of part of the brain to regulate body posture and limb movements. 5-HTP has been observed to have benefits in some people who have difficulty standing or walking due to cerebellar ataxia. However, current evidence is mixed. Further research is needed before a strong conclusion can be drawn.
Avoid 5-HTP if allergic or hypersensitive to it. Signs of allergy to 5-HTP may include rash, itching, or shortness of breath. Avoid with eosinophilia syndromes, Down syndrome, or mitochondrial encephalomyopathy. Use cautiously if taking antidepressant medications, 5-HTP receptor agonists, carbidopa, phenobarbital, pindolol, reserpine, tramadol, or zolpidem. Use cautiously with kidney insufficiency, HIV/AIDS (particularly HIV-1 infection), epilepsy, or with a history of mental disorders. Avoid if pregnant or breastfeeding.
Unclear or conflicting scientific evidence:
Acupuncture: Acupuncture is commonly used throughout the world. According to Chinese medicine theory, the human body contains a network of energy pathways through which vital energy, called "chi," circulates. These pathways contain specific points that function like gates, allowing chi to flow through the body. Needles are inserted into these points to regulate the flow of chi. Some patients with Sturge-Weber syndrome experience hemiplegia, which is full or partial paralysis of one side of the body. Various types of acupuncture, such as scalp acupuncture and traditional acupuncture have been used to treat hemiplegia. More study is needed before a recommendation can be made.
Needles must be sterile in order to avoid disease transmission. Avoid with valvular heart disease, infections, bleeding disorders, medical conditions of unknown origin, neurological disorders or if taking anticoagulants. Avoid on areas that have received radiation therapy and during pregnancy. Avoid electroacupuncture with irregular heartbeat or in patients with pacemakers. Use cautiously with pulmonary disease (like asthma or emphysema). Use cautiously in elderly or medically compromised patients, diabetics or with a history of seizures.
Creatine: Numerous studies suggest that creatine may be helpful in the treatment of various neuromuscular diseases, such as amyotrophic lateral sclerosis (ALS) and myasthenia gravis, and may delay onset of symptoms when used as an adjunct to conventional treatment. However, creatine ingestion does not appear to have a significant effect on muscle creatine stores or high-intensity exercise capacity in individuals with multiple sclerosis, and supplementation does not seem to help people with tetraplegia. Although early studies were encouraging, recent research reports no beneficial effects on survival or disease progression. Additional studies are needed to provide more clear answers.
Avoid if allergic to creatine or if taking diuretics. Use cautiously with asthma, diabetes, gout, kidney disorders, liver or muscle problems, stroke, or with a history of these conditions. Avoid dehydration. Avoid if pregnant or breastfeeding.
DHEA: DHEA (dehydroepiandrosterone) is a hormone that is produced by the adrenal glands. There is conflicting scientific evidence regarding the use of DHEA supplements for myotonic dystrophy. Better research is necessary before a clear conclusion can be drawn.
Avoid if allergic to DHEA. Avoid with a history of seizures. Use cautiously with adrenal or thyroid disorders or if taking anticoagulants or drugs, herbs, or supplements for diabetes, heart disease, seizure, or stroke. Stop use two weeks before and immediately after surgery/dental/diagnostic procedures with bleeding risks. Avoid if pregnant or breastfeeding.
Ginseng: The roots of ginseng have been valued in Chinese medicine for more than 2,000 years. A clinical study found that patients with neurological disorders may improve when taking Panax ginseng. This supports research findings that report Panax ginseng improving cognitive function.
Avoid with known allergy to plants in the Araliaceae family. There has been a report of a serious life-threatening skin reaction, possibly caused by contaminants in ginseng formulations.
Moxibustion: Moxibustion uses the principle of heat to stimulate circulation and break up congestion or stagnation of blood and chi (energy). Early evidence suggests an integrated protocol of herbs, acupuncture, moxibustion, and Western medicine may benefit patients with peripheral facial paralysis. However, there is currently insufficient evidence on which to base concrete conclusions at this time.
Avoid with aneurysms, any kind of "heat syndrome," heart disease, convulsions or cramps, diabetic neuropathy, extreme fatigue and/or anemia, fever, or inflammatory conditions. Avoid areas with an inflamed organ, contraindicated acupuncture points, allergic skin conditions, ulcerated sores, or skin adhesions. Avoid over the face, genitals, head, or nipples. Avoid in patients who have just finished exercising or taking a hot bath or shower. Avoid if pregnant or breastfeeding. Use cautiously over large blood vessels and thin or weak skin. Use cautiously with elderly people with large vessels. It is considered not advisable to bathe or shower for up to 24 hours after a moxibustion treatment.
Physical therapy: The goal of physical therapy is to improve mobility, restore function, reduce pain, and prevent further injury. A variety of techniques, including exercises, stretches, traction, electrical stimulation, and massage, are used during physical therapy sessions. Based on available evidence, it is unclear if physical therapy is beneficial for neurological disorders.
Not all physical therapy programs are suited for everyone, and patients should discuss their medical history with their qualified healthcare professionals before beginning any treatments. Physical therapy may aggravate pre-existing conditions. Persistent pain and fractures of unknown origin have been reported. Physical therapy may increase the duration of pain or cause limitation of motion. Pain and anxiety may occur during the rehabilitation of patients with burns. Both morning stiffness and bone erosion have been reported in the literature, although causality is unclear. Erectile dysfunction has also been reported. Physical therapy has been used during pregnancy, and although reports of major adverse effects are lacking in the available literature, caution is advised nonetheless. All therapies during pregnancy and breastfeeding should be discussed with a licensed obstetrician/gynecologist before initiation.
Taurine: Taurine, or 2-aminoethanesulfonic acid, was originally discovered in ox (Bos taurus) bile and was named after taurus, or bull. In the diet, taurine is considered to be a non-essential amino acid, although it is not a true amino acid. Preliminary study indicates that taurine supplementation may result in improvements in symptoms of myotonic dystrophy. Although promising, additional study is needed to confirm these findings.
Taurine is an amino acid, and it is unlikely that there are allergies related to this constituent. However, allergies may occur from multi-ingredient products that contain taurine. Use cautiously in patients with high cholesterol, low blood pressure, bleeding disorders, potential for mania, or epilepsy. Avoid consuming energy drinks containing taurine, caffeine, glucuronolactone, B vitamins, and other ingredients before drinking alcohol or exercising. Use cautiously if pregnant or breastfeeding because taurine is a natural component of breast milk.
TENS (transcutaneous electrical nerve stimulation): Transcutaneous electrical nerve stimulation (TENS) is a non-invasive technique in which a low-voltage electrical current is delivered through wires from a small power unit to electrodes located on the skin. Based on the available evidence, it is unclear if TENS is an effective treatment for hemiplegia.
Avoid with implantable devices, such as defibrillators, pacemakers, intravenous infusion pumps, or hepatic artery infusion pumps. Use cautiously with decreased sensation (such as neuropathy) or with seizure disorders. Avoid if pregnant or breastfeeding.
Vitamin B6: Major sources of vitamin B6 include cereal grains, legumes (beans), vegetables (like carrots, spinach, peas), potatoes, milk, cheese, eggs, fish, liver, meat, and flour. There is preliminary evidence that pyridoxine supplementation might benefit hyperkinetic children who have low levels of serotonin in their blood. Further research is needed to better understand the role of vitamin B6 for hyperkinetic disorders.
Vitamin B6 is likely safe when used orally in doses not exceeding the recommended dietary allowance (RDA). Avoid if sensitive or allergic to any vitamin B6 product ingredients. Some individuals seem to be particularly sensitive to vitamin B6 and may have problems at lower doses. Avoid excessive dosing. Use cautiously if pregnant or breastfeeding.
Fair negative scientific evidence:
Choline: Choline is an essential amino acid that is produced in the body and consumed in the diet. Choline is possibly ineffective when taken by mouth for treating cerebellar ataxia.
Avoid if allergic/hypersensitive to choline, lecithin, or phosphatidylcholine. Use cautiously with kidney or liver disorders or trimethylaminuria. Use cautiously with a history of depression. If pregnant or breastfeeding it seems generally safe to consume choline within the recommended adequate intake (AI) parameters; supplementation outside of dietary intake is usually not necessary if a healthy diet is consumed.

Prevention

There is currently no known method of prevention for Sturge-Weber syndrome.
The patient's prognosis largely depends on the ability to control the frequency and severity of seizures because seizures can worsen existing neurological symptoms or cause new symptoms to develop. Therefore, patients should take their anticonvulsant medications exactly as prescribed. If the medication does not seem to be controlling symptoms adequately, patients should visit their healthcare providers to determine if the drug or dose needs to be changed. In some cases, surgery may be recommended.
Early treatment for glaucoma can help prevent permanent vision loss.
Doctors recommend yearly glaucoma tests for patients with Sturge-Weber syndrome.

Author information

This information has been edited and peer-reviewed by contributors to the Natural Standard Research Collaboration (www.naturalstandard.com).

Bibliography

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Causes

The exact cause of Sturge-Weber remains unknown. Although the condition is present at birth, it does not appear to be an inherited disorder that is passed down among families.
Researchers believe that the blood vessels that surround part of the brain do not develop properly in the early stages of pregnancy. The affected part of the brain does not function properly. That is why patients develop neurological symptoms, including seizures, glaucoma, and learning disabilities.