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    Sturge-Weber syndrome

    Encephalotrigeminal angiomatosis

    Sturge-Weber syndrome is a rare disorder that is present at birth. A child with this condition will have a port-wine stain birthmark (usually on the face) and nervous system problems.

    Causes

    The cause of Sturge-Weber is unknown. It is not thought to be passed down (inherited) through families.

    Symptoms

    • Port-wine stain (more common on the face than the body)
    • Seizures
    • Paralysis or weakness on one side
    • Learning disabilities

    Exams and Tests

    Glaucoma may be one sign of the condition.

    Tests may include:

    • CT scan
    • MRI scan
    • X-rays

    Treatment

    Treatment is based on the patient's signs and symptoms, and may include:

    • Anticonvulsant medicines for seizures
    • Eye drops or surgery to treat glaucoma
    • Laser therapy for port-wine stains
    • Physical therapy for paralysis or weakness
    • Possible brain surgery to prevent seizures

    Outlook (Prognosis)

    Most cases of Sturge-Weber are not life-threatening. The patient's quality of life depends on how well the symptoms (such as seizures) can be prevented or treated.

    Patients will need to visit an ophthalmologist at least once a year to treat glaucoma. They also will need to see a neurologist to treat seizures and othernervous systemsymptoms.

    Possible Complications

    • Abnormal blood vessel growth in the skull
    • Continued growth of the port-wine stain
    • Developmental delays
    • Emotional and behavioral problems
    • Glaucoma, which may lead to blindness
    • Paralysis
    • Seizures

    When to Contact a Medical Professional

    The health care provider should check all birthmarks, including a port-wine stain. Seizures, vision problems, paralysis, and changes in alertness or mental state may mean the coverings of the brain are involved. These symptoms should be evaluated right away.

    Prevention

    There is no known prevention.

    References

    Haslam RHA. Neurocutaneous syndromes. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 596.

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      A Closer Look

        Self Care

          Tests for Sturge-Weber syndrome

            Review Date: 11/14/2011

            Reviewed By: Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

            The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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