Sturge Weber Syndrome

Sturge Weber Syndrome is more accurately described as “encephelotrigeminal agniomatosis”.  It is a non-familial congenital disorder of unknown incidence and cause.  According to National Institute of Neurological Disorders and Stroke, SWS is a neurological disorder.  It is characterized by a congenital facial birthmark, known as a capillary malformation and other neurological abnormalities.  The other symptoms include eye and internal organ irregularities which vary in degree.

In general terms the birthmark associated with SWS can vary in color from light pink to deep purple and is caused by an overabundance of capillaries around the trigeminal nerve just beneath the surface of the face.  Sturge-Weber syndrome is also accompanied by the loss of nerve cells and calcification of tissue in the cerebral cortex of the brain on the same side of the body as the birthmark. Neurological symptoms include seizures that begin in infancy and may worsen with age.  Convulsions usually happen on the side of the body opposite the birthmark and vary in severity.  There may be muscle weakness on the same side.  Some children will have developmental delays and mental retardation; most will have glaucoma (increased pressure within the eye) at birth or developing later.  The increased pressure within the eye can cause the eyeball to enlarge and bulge out of its socket (buphthalmos). Sturge-Weber syndrome rarely affects other body organs.

They divide the classification of SW into Type 1 -3

Type I is the most common.  It involves both facial and brain vascular malformations.  It may include glaucoma in the diagnosis.  Seizures usually occur within the first year of life.  The glaucoma is also noted in the first year of life.  This is noted by a “blood shot” appearance to the white of the eye.  The facial and brain involvement is bilateral- crossing the midline of the face or line of symmetry.  Mental and physical development can be impaired to varying degrees depending on the severity of the vascular malformations.  It is a progressive disease.

Type II has the same facial malformations and glaucoma but there is no intracranial malformation.  There is no specific time for symptoms to present beyond the facial port wine stain.  As the child ages the symptoms of glaucoma, cerebral blood flow abnormalities, headaches may manifest themselves.  More research is being done on this type of SW to determine the progression of the disease.

Type III has no facial involvement and no development of glaucoma.  It is often first diagnosed by brain imaging performed for seizures.  The psychosocial issues are not seen in these patients as there is no facial difference.  Depending on the degree of the brain involvement there can be significant physical and academic disability.

The Treatment of SWS is designed around management of the symptoms.  Laser may be used to lighten the vascular lesions of the skin, or Port Wine Stains, anticonvulsant medications are used to control seizures.  Surgery may be used to treat glaucoma.  Physicians encourage parents to seek physical therapy for the neurological components that lead to muscle weakness.  Some children have developmental delays and need educational and occupational therapy.  Glaucoma should be monitored throughout the life of the patient.

Sturge Weber has been known for many years.  Recently there has been an identification of another disorder known as PHACE Syndrome where as the birthmark component is not a malformation but a vascular tumor known as a segmental hemangioma.  It is believed that some cases of SWS are in fact PHACE.  The concern is that there are severe vascular, cardiac and structural brain anomalies in PHACE that need careful monitoring.

Sturge Weber Syndrome (SWS) was first identified in the 1870′s.  At that time there was very little understanding of the disease.  Because of the facial differences seen in the disease families often became isolated.  Those that did seek medical attention were at the mercy of the medical community and public who did not even attempt to understand the disease or help ease the symptoms associated with SWS. In 1986 Mimi Howe contacted the National Organization of Rare Diseases for information on the disease.  Finding very little information she started a support group.  In very little time she found over 40 families battling SWS.  One of these families was Karen and Kirk Ball.  Karen had just given birth to Kaelin, she was diagnosed with glaucoma and a bilateral port wine stain.  Karen was looking for answers for treatment, and “why” this happened to her daughter.  She contacted Mimi who offered support but did not have the answers Karen was seeking.  Karen and Kirk started the Sturge Weber Foundation in 1987 to provide support for individuals, families and the medical professionals.  She desperately wanted to “speed up the collective understanding of the syndrome”.  (SWS: The resource guide for a reason, a season and a lifetime by Edited by Karen Ball)  Over the past 20 years the SWF has provided support and education in many ways.  They have hosted international family conferences, regional family days, published a newsletter, web-site and reference book on the syndrome. NOVA refers all family contacts with SW to the SWF for assistance and the organizations jointly serve the family.

Recently there has been an identification of another disorder known as PHACE Syndrome where as the birthmark component is not a malformation but a vascular tumor known as a segmental hemangioma.  It is believed that some cases of SWS are in fact PHACE.  The concern is that there are severe vascular, cardiac and structural brain anomalies in PHACE that need careful monitoring.  In all cases NOVA encourages individuals with vascular anomalies to be evaluated by a physician experienced in the diagnosis and treatment of vascular anomalies.

 

Reference:

Chaundhary SC, Sonkar SK, KumarV, GolchhaS, Sturge Weber Syndrome, J Associ Physicians India, 2011 May:59:327-9 (Abstract)

The Sturge Weber Foundation: http://www.sturge-weber.org

 National Institute of Neurological Disorders and Stroke: http://www.ninds.nih.gov/disorders/sturge_weber/sturge_weber.htm  

 

NOVA provides this information as a resource.  It is not intended to engage in the practice of medicine or to replace the physician.  NOVA does not claim to have medical knowledge.  NOVA does not endorse any particular physician, treating facility or treatment protocol.  In all cases NOVA, the NOVA Board of Directors and associates recommends that you seek the opinion of a physician experienced in the diagnosis and treatment of hemangioma and vascular malformations.

rev 8/10/2011

 

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