About . . .Sturge-Weber

Ongoing Research Investigations

2001 Heather Etchevers, M.D. Institut d' Embryologie "Multipotency of Neural Crest-Derived Pericytes" ,000-one year grant

The diverse cutaneous, vascular and neurological symptoms of Sturge-Weber syndrome may arise from a defect in the differentiation of the neural crest cell-derived pericyte. The long-term objective of this project is to define the capacity of purified pericytes to differentiate into other, characterized cell types. During embryonic life, cephalic NCC normally yield vascular pericytes as well as bone, cartilage, smooth muscle, fat, other connective tissues and neural and dermal cell types in the head. Pilot work for this proposal has established a protocol for the purification of embryonic NCC-derived pericytes and their maintenance under defined culture conditions.


2001 Douglas Marchuk, PhD. Duke University Medical Center, "Molecular Genetic Analysis of Port-Wine Stains in Sturge-Weber syndrome" ,000-one year grant

The sporadic occurrence of Sturge-Weber syndrome, and distribution of lesions in a scattered or asymmetrical patter suggests the occurrence of a somatic mutation in an otherwise essential gene, leading to mosaicism for the mutation, as first postulated by Happle for this and similar syndromes. Our proposal is also based on the original observation of Smoller and Rosen that port-wine stains show a significant decrease in the density of nerves associated with blood vessels in the lesion. This observation, subsequently also described by others, suggests that a lack of innervation may be the primary defect of PWS, resulting in incomplete neural modulation of vascular flow. The extent of the vascular anomalies may depend on the time during development when this deficiency began, such that early events may predispose to some of the neurological problems associated with SWS. Our basic hypothesis is that the lack of innervation associated with PWS and SWS is due to somatic mutation of one of the receptors guiding axonal association in conjunction with vasculature system.

2000 Mahbubul Huq, M.D., Ph.D. Children's Hospital of Michigan: "Identification of Genetic Lesions in Sturge-Weber Syndrome" ,000-one year grant

Our long range goal is to understand the pathogenesis of Sturge-Weber syndrome (SWS) and to use that knowledge to develop potent and novel therapy. The objective of this application, which is the next step in the pursuit of that goal, is to determine the genetic lesions in SWS. We hypothesize that SWS could arise from a somatic mutation that results in a single vascular abnormality of primordial vascular plexus in 4-mm embryo at 4 to 5weeks of gestation, when the visual cortex is juxtaposed to the optic vesicle and the upper part of the embryonic face. The mutation may reside in mesodermal or ectodermal cells that give rise to the primordial vascular plexus or that secondarily affect its generation and remodeling. SWS is characterized by sporadic occurrence, distribution of lesions in an asymmetrical pattern, variable extent of involvement, lack of diffuse involvement of entire body and or an organ, and almost equal sex ratio.

2000 Satoshi Hirakawa, M.D. Harvard Medical School: "The Role of Thrombospondin-2 in the Development of Hemangiomas Associated with Sturge-Weber syndrome" ,000-one year grant

Our hypothesis is that the endogenous angiogenesis inhibitor TSP-2 plays an important role in the pathogenesis of hemangiomas associated with Sturge-Weber syndrome. Therefore, we expect that tSP-2 is down-regulated at both messenger RNA and protein level. We also expect that crosses of k14/VEGF transgenic mice with TSP-2 knock-out mice, and crosses of K14/angiopoietin-1 transgenic mice with TSP-2 knock-out mice, will show highly increased skin vascularization and hemangioma development and might serve as new in vivo models for cutaneous hemangiomas. We also expect that treatment of cutaneous hemangiomas with TSP-2 will decrease the size and formation of hemangiomas in vivo.

1999 Karl Heinz Plate, MD Friedrich-Alexander University: Angiogenesis "Regulation of Angiogenesis in Sturge-Weber syndrome" ,000- one year grant

Failure of proper vascular development most likely is an underlying cause of SWS. These malformed blood vessels, or hemangiomas, may lead to port wine stain, epilepsy, and glaucoma, depending on location. We plan to examine expression of angiogenesis factors (such as VEGF & angiopoietins), their receptors (VEGFR's and TIE's) and putative regulatory molecules (such as hypoxia-inducible transcription factors, HIF's), by Northern analysis, immunohistochemistry, and in situ hybridization. In addition, we plan to test whether SWS could be a viral disease.
This information was taken from the Sturge-Weber Foundation

Port-wine stain
Definition
A vascular birthmark consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discoloration of the skin.
Alternative names
Nevus flammeus

Causes, incidence, and risk factors
Port-wine stains (PWS) are present at birth. The incidence is 3 out of 1,000 people. Port-wine stains occur most often on the face but can appear anywhere on the body. Early stains are usually flat and pink in appearance. As the child matures, the color may deepen to a dark red or purplish color.



The presence of PWS can cause emotional and social problems for the affected person because of their cosmetic appearance. Port-wine stains that involve the upper and lower lids (trigeminal distribution) may be associated with the development of glaucoma.



PWS may be one of a group of symptoms and signs in which case it is considered to be part of a syndrome such as Sturge-Weber syndrome or Klippel-Trenaunay-Weber syndrome.

Symptoms


lesion is usually present at birth
newborn infant with a flat pink to purplish lesion on skin
most commonly seen on face and neck (but may occur on trunk or extremities)
older child with a slightly more reddish to purplish lesion, flat to slightly raised
adult with darkly red to purplish lesion
Signs and tests
Your physician can usually diagnose a port wine stain based entirely upon its appearance. In unusual cases, a skin biopsy may be needed to confirm the diagnosis. Depending on the location of the birthmark and other associated symptoms, your physician may choose to order a measurement of intraocular pressure or X-ray of the skull.

What is SWS?

Sturge-Weber Syndrome (encephelotrigeminal angiomatosis) is a congenital, non-familial disorder of unknown incidence and cause. It is characterized by a congenital facial birthmark and neurological abnormalities. Other symptoms associated with Sturge-Weber can include eye and internal organ irregularities. Each case of Sturge-Weber Syndrome is unique and exhibits the characterizing findings to varying degrees.

Facial Birthmark
The most apparent indication of Sturge-Weber Syndrome is a facial birthmark or "Port Wine Stain" present at birth and typically involving at least one upper eyelid and the forehead. Much variation in the size of the stain has been reported and may be limited to one side of the face or may involve both sides. The stain, varying from light pink to deep purple, is due to an overabundance of capillaries just beneath the surface of the involved skin. In persons with dark pigmentation, the stain may be difficult to recognize. In rare instances, there is an absence of a Port Wine Stain.

Neurological Abnormalities
Neurological concerns relate to the development of excessive blood vessel growth on the surface of the brain (angiomas). These are located typically on the back (occipital) region of the brain on the same side as the port wine stain. These angiomas create abnormal conditions for brain function in the region. Seizure activity is the most common early problem, often starting by one year of age. The convulsions usually appear on the opposite side of the body from the Port Wine Stain and vary in severity. Vigorous attempts are made to control the seizures with medication. A weakening or loss of the use of one side of the body (hemiparesis), may develop opposite to the port wine stain. Developmental delay of motor and cognitive skills may also occur to varying degrees.

Other Manifestations
Increased pressure within the eye (glaucoma) is another condition which can be present at birth or develop later. The incidence of glaucoma in patients with Sturge-Weber is approximately 70% and 40% for choroidal lesions. The glaucoma is usually restricted to the eye which has the stain involvement. Enlarging of the eye (buphthalmos) can also occur in the eye which has been affected by the stain. Multiple other body organs are rarely affected in Sturge-Weber syndrome. Infants affected with Sturge-Weber Syndrome are often monitored by a pediatrician, neurologist, ophthalmologist and dermatologist.

Treatment
Laser treatment is available to lighten and or remove port wine stains in children as young as one month of age. Anti-convulsants are used to control the seizures. Surgery and or eye drops are used to control the glaucoma.

This material is provided for your general information only. This site does not give medical advice or engage in the practice of medicine. We under no circumstances recommend treatment for specific individuals and in all cases recommend that you consult your physician or local treatment center before pursuing any course of treatment.

Definition
A seizure or convulsion can be a sudden, violent, uncontrollable contraction of a group of muscles. A seizure can also be more subtle, consisting of only a brief "loss of contact" or a few moments of what appears to be daydreaming.
Alternative names
Convulsions

Considerations
Any mild or major seizure is caused by sudden abnormal function of the brain.



Some types of seizures are:

Petit mal seizure (brief "loss of contact" type seizures)
Partial complex seizure
Febrile seizure
Generalized tonic-clonic seizure (grand mal)
Partial (focal) seizure
Temporal lobe seizure
Febrile seizure (children)
Epilepsy (a disorder with chronic seizure) begins anywhere between the ages of 3 and 14 years, and continues indefinitely. It may be a familial condition.

The most common cause of seizures in children are febrile seizures. Often, uncomplicated febrile seizures are benign.



When witnessing a seizure, try to remember what happened such as:

Did limbs twitch? If so, which ones and on which side.
Did the head twist, neck go rigid, eyes turn or roll?
Was there drooling or foaming at the mouth?
Was there a chewing motion or smacking of the lips?
Was there any change in consciousness?
Did the victim bite the inside of the cheek, tongue or lips?
Was there loss of bladder or bowel control?
If there was no twitching at all, just a sudden blanking out, as in a faint, then it may have been a faint if the victim recovered promptly after lying down. In an epileptic seizure, it usually takes minutes or hours to recover.
Common causes


Injury or trauma to the head
Infection
Brain tumor (30% to 40% of patients with brain tumors have a seizure)
High fever or heatstroke
Epilepsy (seizures occur in a predictable pattern)
Diabetes (seizures can occur when blood sugar level is too low)
Home care
Follow your health care provider's recommendations. Known epileptics should always wear a medical alert tag.



There is nothing you can do to stop convulsions once they have started. See seizure-first aid. All that can be done is to help protect the victim from injury and get medical help as needed. Clear furniture and sharp objects from the area around the victim.

If vomiting occurs, turn the victim's head so that the vomitus is expelled. If the victim is unconscious, keep the airway open, and be prepared to administer CPR if necessary.



In an infant or child, if the seizure seems to be the result of high fever, cool the child gradually, using a dampened sponge or cool compress and tepid water. An appropriate dose of acetaminophen (Tylenol) may be used if the child is awake. DO NOT, however, immerse the child in a cold bath.



After a convulsion, most victims go into a deep sleep. Don't prevent the victim from sleeping. He or she will probably be disoriented for awhile after awakening.



Stay with the victim until recovery or until you have professional medical help. Meanwhile, monitor their vital signs (pulse, rate of breathing, blood pressure).



DO NOT:

DO NOT restrain the victim.
DO NOT place anything between the victim's teeth during a seizure (including your fingers).
DO NOT move the victim unless he or she is in danger or near something hazardous.
DO NOT try to make the victim stop convulsing -- they can't control themselves during a seizure.
DO NOT perform rescue breathing on a seizure victim, even if they are turning blue. Most seizures end long before brain damage would begin.
DO NOT give the victim anything by mouth until the convulsions have stopped and the victim is fully awake and alert.
Call your health care provider if
Report any seizures (even a mild one) to the health care provider.Note: This is not a trivial symptom. If this is the first time the person has had a seizure (there is no previous history of epilepsy), or if this is a new type of seizure for the person, they should be seen right away (go to the emergency room if necessary).

What to expect at your health care provider's office
The medical history will be obtained and a physical examination performed.



Medical history questions documenting a seizure in detail may include:

Location
Did it occur on one side only (unilateral)?
Did it affect only a part of the body?
Quality
Was it a major movement (convulsion) seizure?
Did it have a known cause (such as known epilepsy or a recent head injury)?
Was consciousness maintained during the seizure?
Was it a rhythmic contraction and relaxation of the face, arm, or leg muscles?
Was it a petit mal seizure (staring episode or similar activity)?
Were there prolonged muscle contractions only?
Was there a period of prolonged muscle contraction AND a period of muscle contraction alternating with relaxation?
Time pattern
How long did the seizure last (how many seconds)?
Is this the first time the person has had this type of a seizure?
Have they ever had a seizure that lasted longer than 2 or 3 minutes?
Have they ever had a seizure that involved large muscle movements (convulsion)?
Other
What other symptoms are also present?
Did the seizure occur with some memory loss (partial amnesia) about the seizure?
Did the seizure occur with re-experience of emotions (recalled emotion)?
Did the seizure occur with lip smacking?
Did the seizure occur with cheek or tongue biting?
Did the seizure occur with impairment of taste (dysgeusia)?
Did the seizure occur with loss of smell (anosmia)?
Did the seizure occur with nausea or vomiting?
Did the seizure occur after an episode of hyperventilation (rapid breathing)?
The physical examination may include a neurological examination. The occurrence, nature, and duration of the seizures will be assessed.



Diagnostic tests that may be performed include:
CT scan of the head or MRI
EEG
Lumbar puncture
Blood tests
X-rays
Intervention:

Medications are often prescribed. Strict compliance with drug therapy, if appropriate, will be emphasized. Depending on the cause, surgery may be recommended.



Family members should be asked to observe and record seizure activity to ensure proper treatment.

People with uncontrolled seizures should not drive. Each state has a different law with respect to amount of time a person has to be seizure free before resumption of driving. People with seizures should also not swim or bike alone.



After seeing your health care provider:

You may want to add a diagnosis related to seizures to your personal medical record.


The information contained above is intended for general reference purposes only. It is not a substitute for professional medical advice or a medical exam. Always seek the advice of your physician or other qualified health professional before starting any new treatment.



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NINDS Sturge-Weber Syndrome Information Page
Synonym(s): Encephalotrigeminal Angiomatosis
Reviewed 07-01-2001
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Table of Contents (click to jump to sections)

What is Sturge-Weber Syndrome?
Is there any treatment?
What is the prognosis?
What research is being done?

Organizations

What is Sturge-Weber Syndrome?
Sturge-Weber syndrome (also called "encephalotrigeminal angiomatosis") is a congenital disorder characterized by a vascular birthmark and neurological abnormalities. Symptoms of the disorder, which vary widely among patients, may include eye and internal organ irregularities. The most apparent symptom is a facial birthmark or port wine stain which is present at birth and usually involves at least one upper eyelid and the forehead. The stain, varying from light pink to deep purple, is caused by an overabundance of capillaries just beneath the surface of the affected skin. Neurological symptoms include excessive blood vessel growth on the surface of the brain (angiomas). These angiomas are typically located on the posterior or occipital region of the brain and cause seizures, which often start before one year of age and may worsen with age. The convulsions usually appear on the side of the body opposite the port wine stain and vary in severity. A weakening or loss of use of the side of the body opposite the port wine stain (hemiparesis) may also develop. Developmental delay of motor and cognitive skills may occur. Glaucoma (increased pressure within the eye) may be present at birth or develop later. Buphthalmos (enlargement of the coatings of the eye) may also occur in the eye that is affected by the port wine stain. Sturge-Weber syndrome rarely affects other body organs.
Is there any treatment?
Treatment for Sturge-Weber syndrome is symptomatic. Laser treatment is available to lighten and/or remove port wine stains. Anticonvulsant medications may be used to control seizures. Surgery and/or eyedrops may be prescribed to control glaucoma.

What is the prognosis?
Although SWS-related seizures can sometimes place patients in potentially life-threatening situations, the disease itself is not fatal.

What research is being done?
The NINDS supports a broad program of research to better understand congenital and seizure disorders such as Sturge-Weber syndrome.




Organizations

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
resourcecenter@modimes.org
http://www.modimes.org
Tel: 914-428-7100 888-MODIMES (663-4637)
Fax: 914-428-8203



National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291



National Eye Institute (NEI)
National Institutes of Health
Bldg. 31, Rm. 6A32
Bethesda, MD 20892-2510
2020@b31.nei.nih.gov
http://www.nei.nih.gov
Tel: 301-496-5248 Professionals 800-869-2020



National Institute of Child Health and Human Development (NICHD)
National Institutes of Health
Bldg. 31, Rm. 2A32
Bethesda, MD 20892-2425
NICHDClearinghouse@mail.nih.gov
http://www.nichd.nih.gov
Tel: 301-496-5133 800-370-2943



Sturge-Weber Foundation
P.O. Box 418
Mt. Freedom, NJ 07970
SWF@sturge-weber.com
http://www.sturge-weber.com
Tel: 973-895-4445 800-627-5482



NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.





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