Sturge-Weber Syndrome

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Original Editors - Marti Bradbury & Kayla Stull from Bellarmine University's Pathophysiology of Complex Patient Problems project.

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Definition/Description

Sturge-Weber Syndrome (SWS) is a sporadic neurocutaneous disorder that affects the meninges (most often the pia mater and acrachnoid mater) of the brain and the skin of the face.  Involvement is normally unilateral, but may be bilateral.  The disease is caused by embryonic blood vessels that fail to regress at the appropriate time of development.  This leaves residual blood vessels that result in the formation of angiomas on the face, in the meninges, and in the ipsilateral eye.  The angiomas of the face are referred to as port wine stains and are most often present in the opthalmic and maxillary divisions of the trigeminal nerve.  

Those affected by the disorder may have involvement of both the CNS and the skin of the face or they present with only one area of involvment.  The Roach Scale is used to classify the disorder into three types, based on the areas that are affected by the residual blood vessels.

1. Type I: Angiomas are present in both the skin of the face and meninges, ipsilateral eye is also typically affected
2. Type II: Angioma only present on the face, ipsilateral eye may be affected
3. Type III: Angioma only present in the meninges, ipsilateral eye is usally not affected  

Hypertrophy of the tissue directly beneath the angioma is typically present.  This may lead to assymetries in facial features in addition to the port wine stain.  Hypertrophy may also also lead to calcification within CNS resulting in neurological symptoms that include seizures, focal deficits, headaches, and developmental delays.

The neurological symptoms of SWS are progessive in nature.  This is most commonly attributed to the "vascular steal phenomenon" in which the residual blood vessels steal blood from the rest of the cortex resulting in hypoxic injury to CNS tissue and increased calcification around the angioma.  This leads to increased risk for seizures and neurological deficits.

Prevalence

The incidence of SWS is estimated to be 1 per 50,000.  Race has not been reported to have an influence on the prevalence of the disorder.  Both sexes have been documented to be affected equally.

Characteristics/Clinical Presentation

As it was stated before, SWS primarly affects three areas - the skin of the face, the meninges of the brain, and the eye.  Each of these areas can be affected in a number of different ways.  The possible manifestions of the disease are described below.

Manifestions of the Face:

• Port Wine Stain - This is most often present in the distribution of the trigeminal nerve.  Typically the opthalmic and maxiallary are most affected, while the mandibular portion is affected less often.  Port wine stains associated with SWS are often progressive.  They begin as a light pink color at birth and then become to a dark red or purple color as the disease progresses.  Port wine stains are not always isolated to the face and may be present on other areas of the body.  The presence of a port wine stain alone does not indicate SWS.  It is necessary to differeniate between SWS and other cutaneous disorders that may present similar skin pigmentation abnormalities.

Manifestations of the CNS:

• Seziures - Seziures can be attributed to ischemia of the cortex and irritation of the brain secondary to calfication.  Most seizures begin within the first 24 months of life and indicate a higher risk for developmental delay than those who do not have seizures.  Earlier onset may be seen in those with bilateral involvement.  Seizures are normally partial and focal due to the focal nature of the angioma associated with SWS.  Seziures can often be at least partially controlled with medication.  In rare cases, status epilepticus may be present.  These are expecially dangerous in idividuals with SWS because the vascular system is already compromised.
• Hemiparesis - If the CNS damage occurs in an area responsible for motor control, hemiparesis may occur.  The specific location of the damage will determine that areas of the body that are affected and to what extent.  Hemiparesis is often accompanied by a migraine headache indicating a vascular problem.
• Developmental Delay - The severity of developmental delay is based upon the amount of neurological damage.  Earlier onset of seizures generaly indicates a greater risk for developmental delay.  Learning disorders may also present.  Attention deficit hyperactivity disorder is often noticed in children with SWS.
• Headaches - Migraine-like headaches tend to develop because of vascular disease.  Onset of headaches varies based on the progression of the disease.  Onset at <10 years of age is a common finding in children with SWS.

Manifestations of the Eye:

• Glaucoma - Glaucoma normally develops in the ipsilateral eye only when the eyelid is affected by the port wine stain (opthalmic portion of the trigeminal nerve).  Occasionally, bilateral glaucoma my occur in cases of bilateral vascular abnormalities.  Glaucoma tends to development either in the first year of life or between the ages of 5-9.
• Blindness - If glaucoma is left untreated, blindness may result.  Blindness is attributed to increased intra-ocular that results from glaucoma and leads to damage of the optic nerve.
• Buphthalmos - Enlargement of the eye may occur secondary to the hypertrohy is often present beneath areas of port wine stain.

Associated Co-morbidities

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Medications⁴

Medications used to treat Sturge-Weber Disease will vary greatly depending the presentation of symptoms in those with the disorder. Medical Intervention can include any of the following:

• Anticonvulsants work to discontinue electrical siezure activity quickly and reduce the likelihood of siezure reoccurance. Examples of these medications include Carbamazepine (Tegretol), Phenytoin (Dilantin), Valproic acid (Depakote, Depakene, Depacon), Gabapentin (Neurontin), Lamotrigine (Lamictal), as well as many others.

• Beta Blockers are used to help decrease intraoccular pressure by reducing the amount of aqueous humor produced in the eye. Aqueous humor is a plasma-like substance largely composed of protiens which help support and nourish occular tissue. Aqueous humor also assists in maintaining appropriate intraoccular pressure but in those with Sterge-Weber Syndrome this substance is overproduced. Levobunolol 0.25% or 0.5% (Betagan) is a beta blocker commonly used in Sterge-Weber Disease.

• Carbonic Anhydrase Inhibitors lower intraoccular pressure in much the same way that beta blockers do, by reducing production of aqueous humor. These drugs include Dorzolamide 2% (Trusopt) and Brinzolamide 1% (Azopt).

• Prostaglandin Analogues also work to lower intraoccular pressure, though instead of decreasing aqueous production directly they, instead, increase the outflow of the fluid away from the eye through the proper pathway. This pathway is known as the uveoscleral pathway and is located inferior to the eye. Latanoprost 0.005% (Xalatan) is a prostaglandin analogue used for this purpose.

• Topical Corticosteroids are used to treat occular. Prednisolone acetate 1% inhibits the edema, fibrin deposition,capillary dilation and phagocytic migration during the acute inflammatory response.  Dexamethasone ophthalmic (Maxidex, Ozurdex) and Triamcinolone (Triesence) work by suppressing the migration of polymorphonuclear leukocytes and reversing capillary permeability.

• Antineoplastic Agents work by inhibiting DNA synthesis in order to decrease or stop cell growth and proliferation. Two examples of antineoplastic agents are Fluorouracil (Efudex) and Mitomycin.

Diagnostic Tests/Lab Tests/Lab Values

The diagnosis of Sturge-Weber Syndrome is most commonly made by the observation of a facial port wine stain in combination with abnormal blood vessels on the suface of the brain and/or glaucoma.

Etiology/Causes

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Systemic Involvement

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Medical Management (current best evidence)

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Physical Therapy Management (current best evidence)

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Alternative/Holistic Management (current best evidence)

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Differential Diagnosis

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Case Reports/ Case Studies

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Resources

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Recent Related Research (from Pubmed)

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References

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3. Pascual-Castroviejo I, Pascual-Pascual S, Velazquez-Fragua R, Viaño J. Sterge-Weber Syndrome. Study of 55 patients. J of Can Neuro Sciences. 2008. 35(3); 301-307.

4. Hampton R, Taravela M. Sterge-Weber Syndrome Medication. Medscape Reference. Available at: http://emedicine.medscape.com/article/1219317-medication#1. Accessed  March 1, 2012.