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Is Sturge Weber Syndrome A Disability

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What Is Pediatric Sturge

What is Sturge Weber Syndrome?

A rare condition, Sturge-Weber syndrome occurs in one out of every 20,000 to 50,000 live births, according to the National Organization for Rare Disorders.Sturge-Weber syndrome is a congenital neurological disorder that causes a distinctive port-wine stain on the forehead, scalp or around the eye.

The stain associated with this condition is a birthmark caused by a mass of capillaries on the brain and near the surface of the skin. Larger blood vessels on that same side of the face may also be affected. Another name for Sturge-Weber syndrome is encephalotrigeminal angiomatosis.

Because there of the excessive blood vessels on the surface of the brain, children with Sturge-Weber Syndrome often experience seizures, which may be difficult to control with medication.

At Childrens Health, our treatment includes education and support for the whole family. In addition, the Epilepsy Center works with referring physicians and area Emergency Departments to:

  • Provide seizure safety education programs
  • Expedite appointments in order to get your child evaluated quickly

Symptoms And Signs Of Sturge

The port-wine nevus can vary in size and color, ranging from light pink to deep purple.

Seizures occur in about 75 to 90% of patients and typically start by age 1 year. Seizures are usually focal but can become generalized. Hemiparesis of the side opposite the port-wine nevus occurs in 25 to 50% of patients. Sometimes the hemiparesis worsens, especially in patients whose seizures cannot be controlled.

  • Brain MRI or head CT

Diagnosis of Sturge-Weber syndrome is suggested by a characteristic port-wine nevus.

Brain MRI with contrast is used to check for a leptomeningeal angioma, but the angioma may not yet show up in very young children. If MRI is not available, head CT may be done it may show calcifications in the cortex under the leptomeningeal angioma. The parallel curvilinear railroad-track calcifications seen on skull x-rays as mentioned in older literature develop during adulthood.

A neurologic examination is done to check for neurologic complications, and an ophthalmologic examination is done to check for eye complications.

What Causes Sturgeweber Syndrome

SturgeWeber syndrome is caused by a somatic mosaic mutation of the GNAQgene on chromosome 9 . This means that the mutation in the gene has occurred in the body cells after the formation of the zygote. GNAQ regulates intracellular signalling pathways. The mutation gives rise to uncontrolled formation or maturation of capillaries in affected cells.

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How Is It Treated

Management of SWS remains symptomatic, meaning that the symptoms of the condition are treated rather than the underlying cause and this will involve a number of specialists.

Anticonvulsant medications are often used to control seizures. Where seizures are difficult to control, two or more anticonvulsant drugs may be used at once. Surgery is considered where anticonvulsant drugs cannot control the seizures this is only carried out in highly specialised childrens centres. Laser therapy can be used to lighten the port wine stain or remove it. Medications are used to treat glaucoma, but if these fail to work, then eye surgery is considered.

Physiotherapists and occupational therapists are often involved early on in the care of infants and children with weakness and/or learning disability. Input from an educational psychologist is often indicated for children with learning disability.

What Are The Clinical Features Of Sturgeweber Syndrome

Patients with Sturge

SturgeWeber syndrome is characterised by vascular malformations on the face and in the eye and brain of affected individuals. These are present at birth.

  • Port-wine stains are the most common type of vascular malformation, affecting approximately three in 1000 infants, but most are not associated with SturgeWeber syndrome .
  • Port-wine stains in SturgeWeber syndrome are typically in the distribution of the first and second division of the trigeminal nerve on the forehead and upper eyelid . They may also affect both sides of the face .
  • Leptomeningeal vascular malformations arise inside the brain on the same side as the port-wine stain.
  • Leptomeningeal vascular malformations may also occur without a port-wine stain .

Neurological and ophthalmological signs in Sturge-Weber syndrome are progressive and usually develop in the first two years of life. These can include:

  • Seizures and epilepsy
  • Visual field defects and glaucoma
  • Growth hormone deficiency.

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How Is Sws Treated

Treatment of patients with SWS is considered symptomatic . A team of specialists is frequently required and may include primary care providers, neurologists, neurosurgeons, dermatologists, ophthalmologists, and plastic surgeons. In addition to these specialists, patients with SWS may require behavioral, speech, occupational, and physical therapists.

Glaucoma is commonly treated with eye-drop medication. In rare circumstances of advanced glaucoma, surgery may be an option. It is very important to follow up with the ophthalmologist on a regular basis.

Port-wine stain can be treated with laser to lighten the color and decrease the size of the port-wine stain. Early treatment is beneficial and it can start within few weeks after birth.

Headaches/migraines can be treated with abortive and preventative medication.

Seizures/epilepsy is treated with anti-seizure medication. The goal of medication is complete seizure control to decrease chances of cognitive and or neurological decline.

Medications typically used for focal/partial seizures like oxcarbazepine , carbamazepine , levetiracetam , topiramate , zonisamide , lacosamide , and others are often used.

Epilepsy surgery is an option for patients that become intractable . Focal or limited resections and hemispherectomies are performed depending on the extent of the leptomeningeal angiomas and seizure onset region.

What Complications Can Sturge

According to Johns Hopkins Medicine, 80 percent of children with SWS also have seizures.

Additionally, 25 percent of those children have full seizure control, 50 percent have partial seizure control, and 25 percent have no seizure control from medication.

Most children with SWS have a port-wine stain and brain abnormalities that affect only one side of the brain. In some children, however, both sides of the brain may be affected.

These children are more likely to experience developmental delays and cognitive impairment.

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How Is Sws Diagnosed

The diagnosis of SWS is made clinically and with the help of specialized testing.

SWS is characterized by:

  • the presence, usually at birth, of a face birthmark called port-wine stain that may involve one side of the forehead and upper eyelids or the whole side of the face
  • glaucoma
  • brain malformation called leptomeningeal angiomas

CT or MRI with contrast will show the leptomeningeal angiomas typically seen in patients with SWS. MRI brain with susceptibility weighted images has proven to be very useful.

An ophthalmological evaluation is very important to help diagnose glaucoma or other eye problems. A complete eye examination and regular follow up visits with the ophthalmologist, especially in infants and children, is required.

An EEG is recommended if there are concerns the child or adult is starting to have seizures. The EEG in children and adults with SWS will likely show abnormal spikes and slowing on one side of the brain, corresponding to port-wine stain.

Life Expectancy Prognosis And Learning Disability In Sturge

Hunter Nelson Sturge-Weber Syndrome Center I Kennedy Krieger Institute

The life expectancy of a child suffering with Sturge-Weber Syndrome depends on the severity of the disease. Majority of children with Sturge-Weber Syndrome go on to lead a normal lifestyle. In case if a child is significantly affected and there is severe involvement of the brain then the life expectancy gets reduced due to the inherent complications of brain involvement like lung complications and frequent infections, although with the advancement of medical science and with ongoing research this can also be increased. The prognosis of a child with Sturge-Weber Syndrome is also affected by the presence of seizure disorder and whether it is kept under control with appropriate treatment.

Despite the variety of treatment to control symptoms and complications, children with Sturge-Weber Syndrome tend to have some kind of disability still with them, one of which is learning disability which in some cases is mild and in some cases severe. A study conducted showed that there is a distinct relationship between seizures and learning disability. The study which was conducted showed the following results:

Hence the chances of a child having some form of disability is more when the child is suffering from seizure disorder than those children who do not have seizure disorder along with Sturge-Weber Syndrome.

Written, Edited or Reviewed By:Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc.This article does not provide medical advice. See disclaimerLast Modified On: January 11, 2019

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What Is The Differential Diagnosis For Sturgeweber Syndrome

The characteristics of other vascular malformation syndromes are described below.

  • KlippelTr√©naunay syndrome has more extensive capillary malformations, involves the limbs and trunk, and is associated withhypertrophy of the affected limb.
  • ParkesWeber syndrome presents with a large capillary malformation on an extremity and hypertrophy of the affected limb. There are multiple, fast-flowing arteriovenous shunts.
  • ServelleMartorell syndrome, a rare congenital angiodysplastic disease, is associated with progressive limb hypotrophy.
  • Proteus syndrome presents with asymmetrical and disproportionate overgrowth of body parts. The syndrome results from a somatic activating mutation in the AKT1oncogene.
  • CLOVES syndrome presents with congenital lipomatous overgrowth, vascular malformation, epidermalnaevus, spinal/skeletal anomalies/scoliosis. The syndrome results from somatic mosaic activating mutations in the PIK3CA gene.

What Are The Classifications Of Sturge

Studies have classified Sturge-Weber Syndrome into three types

  • Type I: This is the most common form of Sturge-Weber Syndrome. This type involves both facial as well as leptomeningeal angiomas and also may involve glaucoma. There may be observation of frequent seizures within the first few years of life due to the involvement of brain. There may also be involvement of the eyes noted within the first year of life. The white part of the eye appears to be dark red due to excessive blood vessels in the eye. In this type of Sturge-Weber Syndrome, there may be impairment of both physical and mental development depending on the extent of the disease and the involvement of the brain and eye.
  • Type II: This form of Sturge-Weber Syndrome involves facial angioma along with glaucoma but there is no intracranial disease present. There is no specific time for the appearance of symptoms in this form. For the whole life, the affected individual may experience symptoms of glaucoma, abnormalities in the blood flow to the cerebrum, frequent headaches, and a few other complications.
  • Type III: In this form of Sturge-Weber Syndrome, there is presence of leptomeningeal angioma but there is no involvement of the face and there is no glaucoma apparent. This form of Sturge-Weber Syndrome is usually identified by brain scanning. At times, this form of Sturge-Weber Syndrome can be misdiagnosed as some other disorder unless the brain scans prove it otherwise.

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What Is The Outlook For Patients With Sws

The outlook for patients with SWS is variable.

  • Seizures can occur later in childhood, but this is not common.
  • Glaucoma more commonly develops in infancy and less commonly in young adults.
  • There is a high likelihood of seizures in patients with SWS, and intellectual disabilities are seen more frequently when seizures start before age 2.
  • Patients with SWS can be mildly affected however, some are severely affected with respect to seizures, vision, intelligence, weakness, and mobility.
  • Older children may develop headaches or migraines.
  • Bilateral brain malformations , early onset of seizures, and difficult to control seizures are predictors of poor outcome.

How Is It Diagnosed

Figure 1 from Sturge

A detailed clinical examination is the first step to diagnosing SWS. Brain scans computed tomography or a magnetic resonance imaging are also performed. These provide more information than can be obtained clinically, including revealing whether both brain hemispheres are affected and if there is any cortical atrophy . If the child suffers from seizures then an electroencephalogram is also needed. Regular eye check ups by a specialist is also important.

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What Are The Signs And Symptoms Of Pediatric Sturge

The main symptom of Sturge-Weber syndrome is the port-wine stain on the face, which all children with the condition have. Although this type of birthmark generally covers one side of the face, it can also form on the neck, as well as on other parts of the body. It begins as a pink mark at birth, but thickens and darkens with age.

Other possible symptoms include:

  • Weakness on one side of the body

What Are The Symptoms

The most common sign of the condition is the port wine stain on the face, named because of its colour. However, in about 13 per cent of cases there is no port wine stain.

Some of the neurological problems that children can suffer from include:

  • headache
  • hemiparesis
  • overgrowth of one side of the body
  • seizures these can sometimes be difficult to control
  • frequent stroke-like episodes
  • eye abnormalities including glaucoma and buphthalmos , which can occur because of the high pressure within the eyeball. In severe cases this can lead to blindness
  • learning disability.

Problems with learning and development are more common when angiomas are found on both sides of the brain .

Symptoms in SWS can vary a lot. This is because the symptoms are often related to where the angiomas on the brain surface are found and how widespread they are.

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What Is The Prognosis Of Sturge Weber Syndrome

Infants are born with the port-wine birthmark. Seizures, early handedness or evidence of a visual gaze preference usually begin in the first two years of life quantitative EEG followed by MRI imaging of the brain can make diagnosis of brain involvement prior to the onset of symptoms. Seizures and strokes can occasionally start in later childhood or even in adulthood. Glaucoma has two peak periods: the first in infancy and the second in young adulthood. However, glaucoma can begin at any time and patients should be seen by an ophthalmologist every few months for the first few years and then at least annually for life.

The prognosis of SWS is extremely variable. Bilateral brain involvement and the early onset of hard to control seizures predict for worse outcome. Some individuals are severely impaired in terms of their intelligence, mobility, vision, and seizures. However, some are more mildly affected with well-controlled seizures, intact vision, mild motor impairment, and normal intelligence with perhaps attention problems or milder learning disabilities. It is uncommon, but individuals have passed away due to complications of SWS.

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What Are The Treatments For Sturgeweber Syndrome

Sturge-weber syndrome

Sturge-Weber Syndrome is usually treated symptomatically but the treatment is usually delayed due to a delay in diagnosis of this disease since this disease is quite rare. For seizure control, anticonvulsant medications are used. Migraines headaches are treated with appropriate medications. At times, in Sturge-Weber Syndrome symptoms can present themselves at a later stage also and will need to be treated accordingly. Another treatment option is the use of low dose aspirin which has been successful for some people in symptom control.

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What Is The Prevalence Of Developmental Delay And Intellectual Disability In Sturge

Related to the degree of neurologic involvement, developmental delay and intellectual disability occur in 50-60% of patients with SWS they are more likely to exist in patients with bilateral involvement. Bebin and Gomez reported normal mental functioning in only 8% of patients with bilateral SWS.

In a detailed study of 10 patients with SWS, Maria et al found developmental delay and learning problems in all 10 and attention deficit hyperactivity disorder in 3. Using a combination of computed tomography scanning, MRI, and functional imaging with single-photon emission CT scanning, abnormalities were found bilaterally the majority of patients, including extensive abnormalities in glucose metabolism and cerebral perfusion. These results may account for the high incidence of developmental delay, intellectual disability, and learning problems seen in SWS.

Seizures are also associated with a higher incidence of mental retardation, and regression may be related to the frequency and severity of seizures as well.

Alkonyi et al reported on 14 patients with bilateral SWS who had an asymmetrical pattern on positron-emission tomography scanning and found that bilateral frontal and temporal hypometabolism was associated with poor developmental outcome. Good seizure control and only mild to moderate developmental impairment was seen in about 50% of the patients with bilateral SWS.

References
  • Baselga E. Sturge-Weber syndrome. Semin Cutan Med Surg. 2004 Jun. 23:87-98. .

  • How Is Sturgeweber Syndrome Diagnosed

    To diagnose Sturge-Weber Syndrome, the easiest way the characteristic feature of a Port Wine Stain on the face and forehead region which confirm the diagnosis along with presence of glaucoma and presence of abnormal blood vessels in the brain. Thus, further evaluations by Neurology, Ophthalmology, Dermatology needs to be conducted to confirm the diagnosis of Sturge-Weber Syndrome. Sturge-Weber Syndrome is a type of disorder in which at times there is involvement of only one organ structure or there may be involvement of two organ structures at one time. Infants with Sturge-Weber Syndrome are born with Port Wine Stain in the face which can be confirmed with a dermatologic evaluation. Also there is presence of seizures within the first year of life and EEG and MRI scan of the brain with contrast can confirm the involvement of the brain. Neurological symptoms can be observed as early as infancy or may develop later in childhood. There may be development of glaucoma as early as infancy and hence individual who are at risk for Sturge-Weber Syndrome need to have routine eye examinations.

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    What Is Sturge Weber Syndrome

    Sturge Weber Syndrome is also known as encephalotrigeminal angiomatosis. It is a rare condition typically recognized at birth with an estimated incidence of 1:50,000. It affects males and females equally.

    SWS can be classified into three different types:

    • Type 1 is characterized by port-wine stain, cerebral malformation , and the possibility of glaucoma or choroidal lesions. Seizures may occur during the first year of life. Developmental disabilities may be seen during the first year.
    • Type 2 is characterized by port-wine stain and possibly glaucoma without cerebral malformation . Headaches or migraines may also occur.
    • Type 3 is characterized by cerebral malformation exclusively. Port-wine stain is not present and glaucoma is rare.

    Other signs and symptoms of SWS can include intellectual disabilities, learning disabilities, attention deficit/hyperactivity disorder, headaches or migraines, unusual eruption of teeth or premature loss of teeth. There is higher incidence of autism and growth hormone deficiency in patients with SWS.

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