Sturge-Weber syndrome

The Sturge-Weber syndrome (SSW) is a rare disease that belongs to the group of phakomatoses. It is a non-inherited syndrome characterized by a birthmark (usually on one side of the face) known as a port-wine stain, and by neurological problems.

Other peculiarities are: angiomas in different locations, cerebral calcifications, epileptic seizures and glaucoma.

This syndrome was first described by Schirmer in 1860, and it was William Allen Sturge who made its complete clinical description in 1879; subsequently Frederick Parkes Weber, in 1922, demonstrated the typical radiographic alterations of the disease.

SWS is known as complete when it is accompanied by other central nervous system malformations and facial angiomas are present, and as incomplete when only one malformation is present; using the Roach scale for its classification:

• Type I. Facial angioma and leptomeninges are present; you may have glaucoma.
• Type II. Facial angioma only, central nervous system not affected; it may have glaucoma.
• Type III. Angioma of leptomeninges only; without glaucoma.

How it is diagnosed

If birthmarks are seen on the child's head or scalp, an MRI Gadolinium scan is advisable to confirm the diagnosis. It consists of a regular MRI scan, done after a gadolinium injection (this makes the veins show up better on the scan).

Once the diagnosis has been confirmed, you should have medical follow-up by a pediatrician and a pediatric neurologist.

What causes SWS

SWS occurs sporadically and is not a genetic or inherited disease.

It begins early in pregnancy, when the baby is developing in the womb (6 to 9 weeks into the pregnancy). The tissues that make up the skin and the brain are closely related. It is believed to be due to the development of a network of veins that remains on the surface of the brain instead of separating. Why this occurs is unknown, and cannot be attributed to the mother's living conditions during pregnancy.

How Common

This is a rare syndrome.

It affects all ethnic groups and is equally likely in both sexes.

Children with a burgundy patch on both sides of the scalp or forehead often present with WSS.

Prognosis for a Child with SSW

A child with SSW has a range of disabilities that affects them from medium to severe. The prognosis changes from child to child depending on the severity of the symptoms and how they can be controlled.

Symptoms

• Handle in Port wine (more common in the face than in the body, specifically on one side, standing over the area of the forehead and the corresponding eyelid)
• Convulsions
• Paralysis or weakness on one side
• Glaucoma
• Learning difficulties
• Anxiety
• Frustration

These last two symptoms can trigger an "aggressive-convulsive crisis" and the person can even harm himself or even have an epileptic attack.

Problems that can cause symptoms

Capillary Malformation

Sturge-Weber Syndrome is characterized by presenting an extensive hemifacial capillary malformation (ISSVA 2016 classification; International Society for the Study of Vascular Anomalies), classically called port wine stain, It can affect the child psychologically, emotionally and socially.

Developmental and learning disabilities

About 60% of children with SSW have developmental delays and learning problems. That is, they do not develop or acquire the same skills as children of the same age who do not have SSW or are slower to develop. It seems that children with abnormal blood vessels on both sides of the brain have severe learning problems compared to other children.

Visual field deficit

Some children with SWS have visual field deficits. This means that they have trouble seeing objects that are outside the field of vision of their eye. In infants the appropriate diagnostic test is difficult. Once it is known which area is affected, it will be known what type of toys, activities or tasks are out of the child's field of vision.

Hemiplegia

Children with SWS will have a weak spot on the side of the body opposite the port-wine stain due to abnormal blood vessels in the brain. They will also have difficulties in using the affected area. The degree of involvement varies from one child to another and the symptoms may be more or less obvious. There are usually three forms of weakness that can affect children with SSW:

• First group, affectation manifests during childhood
• Second group, the involvement is manifested as epileptic attacks
• Final group, produces headaches and is susceptible to improving

Epilepsy

About 80% of children with SWS have epilepsy (fits or convulsions) if the SWS is on both sides of the face. In many of these children they begin before the age of 2. By the age of 5, most have already manifested epileptic seizures.

The onset of these attacks is often triggered by an illness that has caused a fever.

Various types of seizures will occur, the most common are erratic movements of a body part, other types must be reported. If the attacks last more than three minutes or occur very frequently, they will affect the development of the child. Treatment is usually adjusted to reduce the frequency or severity of the attacks.

Headaches

About one third of children with SWS experience headaches and/or migraine episodes. According to studies carried out, it is believed that this is caused by the blood flowing through the extra layer of the veins. Headaches are often associated with a period of seizures and weakness.

Glaucoma

Glaucoma is an increase in internal pressure in the eye that can lead to blindness if left untreated.

Glaucoma is diagnosed using a test that measures eye pressure, using a puff of air. Most children with SSW develop glaucoma during infancy, but some do not develop glaucoma until well into childhood. The ophthalmologist should examine the child's eyes for eye pressure on a regular basis, every year for the first five years and every two years thereafter. If the child develops glaucoma he will need more frequent visits to the doctor.

How the symptoms of SWS should be treated

SSW cannot be treated by itself. As it affects different organs of the body, a multidisciplinary team will offer the best care. Regular visits with the pediatrician and a child development center, along with doctors and specialists, will be necessary. Specialists are usually dermatologists (skin doctors), neurologists (brain and nervous system doctors), and ophthalmologists (eye doctors).

WSS is a life condition that needs care and treatment.

Port wine birthmark

Laser dye treatment is currently the chosen treatment to fade the stain. The results are usually excellent and the side effects are minimal.

With current lasers, patients who did not have satisfactory results with previous systems have shown promising results.

Development and learning

Through support from therapist centers specialized in child development or special schools as well as school support. An individual educational plan and a special education plan will be necessary. Once they have support, the child will need guarantees and resources for it.

Some children develop thyroid problems as early as the seventh or eighth year, so blood tests and possibly medical treatment for the thyroid will be necessary.

Visual field impairment

The ophthalmologist should advise how to live with the deficit. As the child gets older, certain games and sports are bound to be problematic. The child will benefit from the support of a specialist teacher in children's visual deficit.

Hemiplegia

The work of a physical therapist and an occupational therapist can improve the way a child copes with weakness, they can suggest exercise programs to strengthen weaker limbs or help to make daily tasks easier.

There is evidence that taking a low dose of aspirin daily can reduce the number of attacks. Aspirin has been linked to liver disease (Reye's syndrome), although this is quite rare. When to use or not aspirin should be consulted with the specialist.

Epilepsy

There are many appropriate medicines for children with epilepsy. It takes time to find the best combination and ideal dosage for the child, so treatment may change frequently.

If the attacks are still severe after trying various combinations and doses of medicines, an operation may be considered.

Glaucoma

You'll need to have your eyes checked regularly so that glaucoma can be diagnosed and treated as quickly as possible. Treatment usually consists of applying eye drops and sometimes requires simple outpatient surgery.

Synonyms

ICD-9-CM code: 759.6

• Dimitri Disease
• Angiomatosis Encephalofacial
• Angiomatosis Encefalotrigeminal
• Leptomeningea angiomatosis
• Meningea Capilar angiomatosis
• Sturge Kalischer Weber Syndrome
• Sturge Weber Facomatosis
• Sturge Weber Dimitiri Syndrome