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 Stains 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 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 may occur is CNS damage is present in an area of the brain responsible for motor control.  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 may occur as result of decreased blood supply to the cortex. 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 tend to develop because of vascular disease.  Headaches are typically described migraine-like and can be debilitating.  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 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 may result if glaucoma is left untreated.  Blindness is attributed to increased intra-ocular pressure associated with glaucoma. The elevated intra-ocular pressure leads to damage of the optic nerve. Visual deficits may present as feild cuts or total blindness.
• Buphthalmos or 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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Medications⁵

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/Imaging ¹⁶

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. Diagnosis is typically made at birth. The following lab tests and imaging techniques can be used to diagnose SWS.

Lab Tests:

• Cerebrospinal Fluid Analysis may show elevated protein levels.  It is thought that protein may be elevated because of microhemorrhage that may occur within the brain. 

Imaging:

• Radiographs of the skull may show "tram-track" calcification. These calcifications are located between the arachnoid and the pia mater.  The follow the pattern of the gyri in a curvilinear and parallel pattern.  The calcifications are predominately seen in the parietal and occipital lobes.  In more severe cases, the frontal lobe may also be involved and the calcifications may be seen bilaterally.¹⁷  Califications are not present initially and will not be seen on early radiographs.  For this reason, plain radiographs are no longer used to diagnose the disease but rather to determine the severity and prgression of the disease.

• Angiography will illustrate the abnormal vasculature associated with SWS.  Most abnormalities are seen within the venous system.
• CT Scan will show early calcification in infants.  Other abnormal findings on CT scans may also include brain atrophy scondary to a lack of normal blood flow, choroid plexus enlargement due to the inability to aquately transport CSF, and a breakdown of the blood-brain barrier during seizures.
• MRI will allow for early diagnosis of SWS because the images will show the formation of the angioma and early venous abnormalities.  MRI may also show increased myelination in the area of the angioma, an enlarged choroid plexus, atrophy of cortical tissue (predominately white matter), and anbormalties in the corticospinal tracts when hemiparesis is present.
• Single-photon Emission Commuted Tomography (SPECT) measures cerebral blood flow and will demonstrate lack of adequate blood flow in the area of the angioma.  Underperfusion of the cortex is one of the earliest signs of SWS.  It is typically present before calicification develops or the onset of seizures.  SPECT will also illustrate areas of ischemia within the cortex during seizures.
• Positron Emission Tomography (PET) will identify metabolic abnormalities within the ffected hemisphere.

Other Tests:

• Electroencephalogram (EEG) is used to measure electrical activity of the brain though the use of surface electrodes placed on the scalp.¹⁸  In the presence SWS, EEG finding typically include less electrical current on the affected side.  The difference in electrical activity between the affected and unaffected side can be useful in determining the severity of disease.  When multiple tests are performed over time, progression of the disease can also be evaluated.¹⁹ 
• Transcranial Doppler Ultrasonagraphy is used to evaluate cortical blood flow.  Decreased blood flow velocity is often found in the middle and posterior cerebral arteries in chilldren with SWS.  This may explain the hypoperfusion associated with the disorder.

Etiology/Causes

This is a congenital disease which develops in utero and manifests at birth, though it is not believed to be hereditary in nature. Because of the lack of knowledge surrounding its cause, prevention of this syndrome is impossible. ²⁰

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

http://vdisk.univille.edu.br/community/depto_odontologia/get/ODONTOLOGIA/RSBO/RSBO_v8_n4_outubro-dezembrobro2011/v8n4a16.pdf

Resources

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Recent Related Research (from Pubmed)

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References

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1. Baselga E. Sturge-Weber syndrome. Semin Cutan Med Surg. Jun 2004;23(2):87-98.

2. Bodensteiner JB, Roach ES. Sturge-Weber Syndrome: Introduction and Overview. In: Bodensteiner JB, Roach ES, eds. Sturge-Weber Syndrome. Sturge Weber Foundation. Mt Freedom, New Jersey. 1999.

3 .Boltshauser E, Wilson J, Hoare RD. Sturge-Weber syndrome with bilateral intracranial calcification. J Neurol Neurosurg Psychiatry. May 1976;39(5):429-35. [Medline].

4. 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.

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

6.Roach ES. Neurocutaneous syndromes. Pediatr Clin North Am. Aug 1992;39(4):591-620.

7. Aylett SE, Neville BG, Cross JH. Sturge-Weber syndrome: cerebral haemodynamics during seizure activity. Dev Med Child Neurol. Jul 1999;41(7):480-5.

8. Okudaira Y, Arai H, Sato K. Hemodynamic compromise as a factor in clinical progression of Sturge- Weber syndrome. Childs Nerv Syst. Apr 1997;13(4):214-9.

9. Sener RN. Sturge-Weber syndrome: a patient with a cervical port-wine nevus. Comput Med Imaging Graph. Nov-Dec 1997;21(6):359-60.

10. Roach ES, Bodensteiner JB. Neurologic manifestations of Sturge-Weber Syndrome. In: Sturge-Weber Syndrome. Mt Freedom, New Jersey: Sturge Weber Foundation; 1999:27-38.

11.Coley SC, Britton J, Clarke A. Status epilepticus and venous infarction in Sturge-Weber syndrome. Childs Nerv Syst. Dec 1998;14(12):693-6. [Medline].

12. Jung A, Raman A, Rowland Hill C. Acute hemiparesis in Sturge-Weber syndrome. Pract Neurol. Jun 2009;9(3):169-71.

13. Maria BL, Neufeld JA, Rosainz LC. High prevalence of bihemispheric structural and functional defects in Sturge-Weber syndrome. J Child Neurol. Dec 1998;13(12):595-605. [Medline].

14. Klapper J. Headache in Sturge-Weber syndrome. Headache. Oct 1994;34(9):521-2. [Medline].

15. Cheng KP. Ophthalmologic manifestations of Sturge-Weber syndrome. In: Bodensteiner JB, Roach ES, eds. Sturge-Weber Syndrome. Mt Freedom, New Jersey: Sturge Weber Foundation; 1999:17-26.

16. Takeoka M, Kao A. Pediatric Sturge-Weber Syndrome. Medscape Reference. Available at: http://emedicine.medscape.com/article/1177523-overview. Accessed March 7, 2012.

17. Akpinar, E. The Tram-Track Sign: Cortical Calcification. Radiology. 2004: 515-516.

18. EEG. Medline Plus. Available at: http://www.nlm.nih.gov/medlineplus/ency/article/003931.htm. Accessed March 9, 2012.

19. Hatfield LA, Crone NE, Kossoff EH, Ewen JB, Pyzik PL, Lin DD, et al. Quantitative EEG Assymetry Correlates with Clinical Severity in Unilateral STurge-Weber Syndrome. Epilepsia. 2007; 48(1): 191-195.

20. Hicks R. Sturge-Weber Syndrome. BBC Health. 2012. Available at http://www.bbc.co.uk/health/physical_health/conditions/sturgeweber2.shtml. Accessed March 15, 2012.