Sturge-Weber Syndrome in Children Causes Symptoms and Treatment

Sturge-Weber Syndrome is one of the rare conditions that can appear in children from birth. It is mainly characterized by a red birthmark on the face, along with potential problems in the brain and eyes. Many parents wonder: what causes this syndrome? Are there different types? And how can it be managed? In this Dalili Medical article, we will explain in simple terms the symptoms of Sturge-Weber Syndrome in children, methods of diagnosis, the latest medical and surgical treatments, as well as essential tips to help parents monitor their child and protect them from possible complications.

Common Questions about Sturge-Weber Syndrome in Children

1. Is Sturge-Weber Syndrome genetic?
No, in most cases it is not inherited. It happens due to a random gene mutation during fetal development.

2. What is the first sign that should alert parents?
The clearest sign is the presence of a red or purple birthmark on the child’s face (known as a Port-Wine Stain) from birth.

3. Is the birthmark dangerous?
The skin birthmark itself is not dangerous. However, if it appears on the face, especially around the eyes or forehead, it may indicate Sturge-Weber Syndrome.

4. What complications can occur?
Children may experience:

Seizures.
Eye problems such as glaucoma.
Developmental delay or learning difficulties.

5. Is there a cure for the syndrome?
Currently, there is no permanent cure. But symptoms can be managed with:

Medications to control seizures.
Eye or brain surgeries.
Laser therapy to improve the appearance of the skin birthmark.

6. Can a child live a normal life?
Yes, with regular medical follow-up and proper symptom management, many children can live normal or nearly normal lives.

7. When should parents seek urgent medical care?
Seek medical attention immediately if the child shows:

Sudden seizures.
Weakness in an arm or leg.
Sudden vision problems.

What is Sturge-Weber Syndrome in Children?

Sturge-Weber Syndrome is a rare disorder that causes abnormal growth of blood vessels in the brain, face, or both. Most affected children are born with a visible skin mark known as a Port-Wine Stain, often appearing on one side of the face.

The severity of symptoms varies, but the condition may lead to:

Seizures.
Vision problems (like glaucoma).
Developmental or learning delays.

These symptoms may persist into adulthood if the child is not diagnosed and followed up properly.

Is Sturge-Weber Syndrome Genetic?

No ❌, it is not inherited.
It is caused by a random genetic mutation during fetal development and is not linked to family history.

Stages of Sturge-Weber Syndrome in Children

Stage 1: At birth

Appearance of a red or purple birthmark (Port-Wine Stain).
Usually no neurological or eye symptoms yet.

Stage 2: First months of life

Early onset of seizures.
Gradual appearance of eye problems such as glaucoma.

Stage 3: Age 1–2 years

Seizures may worsen if untreated.
Possible hemiparesis (weakness on one side of the body).
Early vision problems or retinal changes.

Stage 4: Early childhood (2–6 years)

Frequent seizures affecting brain development.
Worsening eye problems, possibly partial vision loss.
Learning or behavioral difficulties.

Stage 5: Late childhood & adolescence

Symptoms may stabilize or improve with treatment.
Continued monitoring needed for seizures, vision, and cognitive development.

Note: The severity and progression vary depending on the location and extent of abnormal blood vessels. Early diagnosis and continuous follow-up with neurologists and ophthalmologists significantly reduce serious complications.

Causes of Sturge-Weber Syndrome in Children

1. GNAQ Gene Mutation

The main cause is a somatic mutation in the GNAQ gene.
This mutation occurs after fertilization, so it is not present in every cell of the body, but in specific tissues like skin, brain, and eyes.

2. Abnormal Blood Vessel Formation

Skin → causes the Port-Wine Stain.
Brain → leads to seizures and neurological issues.
Eye → increases risk of glaucoma and retinal problems.

3. Non-hereditary factors

Not related to lifestyle, environment, or family history.
Most cases appear as isolated conditions.

Symptoms of Sturge-Weber Syndrome in Children

1. Skin Signs

Port-Wine Stain: present at birth, usually on one side of the face (forehead, eyelid, cheek).
Dark red or purple color.

2. Neurological Symptoms ⚡

Seizures (often starting in the first year of life).
Hemiparesis (weakness or paralysis on one side of the body).
Developmental delays in speech, movement, or learning.
Severe headaches or migraine-like symptoms.

3. Eye Symptoms

Glaucoma: increased eye pressure, can cause vision loss if untreated.
Retinal abnormalities due to abnormal blood vessels.

4. Other Possible Symptoms

Muscle spasms or weakness.
Behavioral problems or learning difficulties.

Important: Not all children show all symptoms. Some may only have the Port-Wine Stain without neurological or eye complications.

Complications of Sturge-Weber Syndrome in Children ⚠️

Neurological problems

Repeated seizures that can damage brain cells.
Weakness or paralysis on one side of the body.

Eye problems

High risk of permanent vision loss if glaucoma is not treated.

Developmental & learning issues

Difficulty in school, speech delays, or behavioral challenges.

Symptoms of Sturge-Weber Syndrome in Children

Delayed Mental and Motor Development

Difficulties with speech, concentration, and learning.
Slower motor skills: the child may lag behind peers in movement or neurological development.

Vision Problems

Glaucoma: Increased eye pressure that may cause gradual vision loss.
Retinal damage: Due to abnormal blood vessels inside the eye → may lead to partial vision loss.

Skin Issues

Port-Wine Stain: Initially a cosmetic concern, but over time it can darken, thicken, and cause psychological distress for the child.

Additional Complications

Severe, recurrent migraines.
Behavioral problems or learning difficulties due to brain damage.
Hard-to-control seizures that may cause serious health complications.

Important: Children with Sturge-Weber syndrome must be monitored regularly by a neurologist and an ophthalmologist. Early diagnosis and treatment—whether with medication or surgery—greatly reduce the risk of permanent complications.

Types of Sturge-Weber Syndrome in Children

The syndrome varies depending on how it affects the brain, eyes, and skin. Symptoms differ from one child to another:

Complete Sturge-Weber Syndrome

Key signs: Facial port-wine stain + brain involvement + eye problems.
Symptoms: Recurrent seizures, hemiparesis (weakness on one side of the body), vision problems.

Partial Type

Only some features are present.
For example: facial stain without brain or eye involvement.
Symptoms are usually milder and may not affect the child significantly.

Cerebral-Facial Type

Facial stain + brain involvement, but no eye problems.
Often associated with seizures and weakness on one side of the body.

Ocular-Facial Type

Facial stain + eye problems without neurological symptoms.
Usually includes glaucoma and other vision issues.

⚠️ Note: The severity depends on the type of syndrome and the extent of abnormal blood vessels. Early diagnosis and routine follow-up are key to preventing complications.

Diagnosis of Sturge-Weber Syndrome in Children

Diagnosis relies on clinical signs and specialized medical tests:

Clinical Examination & Medical History

Observation of facial port-wine stain.
Checking for seizures or motor weakness.
Assessing vision, behavior, and developmental milestones.

Brain Imaging

MRI: Detects vascular malformations in the brain.
MRA (Magnetic Resonance Angiography): Shows abnormal blood vessel networks.
CT Scan: Reveals bleeding or brain damage.

Eye Tests

Intraocular pressure measurement: To detect glaucoma early.
Retinal exam: To assess abnormal blood vessels inside the eye.

Additional Tests

EEG (Electroencephalogram): To monitor seizure activity.
Developmental and learning assessments: To evaluate mental and motor impact.

Key point: Early diagnosis guides the treatment plan, focusing on seizure control, protecting vision, and supporting the child’s development.

Treatment of Sturge-Weber Syndrome in Children

1. Medication

Drugs don’t treat the abnormal blood vessels directly, but they are essential for controlling symptoms and reducing complications, especially seizures and eye problems.

Anti-seizure medications (e.g., Phenobarbital, Lamotrigine, Levetiracetam): Reduce seizure frequency and protect the brain from ongoing damage.
Glaucoma medications (eye drops such as Beta-blockers or Prostaglandins): Lower eye pressure and prevent vision loss.
Pain relievers: For migraines or chronic headaches (must be prescribed carefully for children).
Supportive medications: If the child has additional issues like high blood pressure or hormonal problems.

⚠️ Note: Medication is part of a comprehensive plan but cannot repair abnormal vessels. In many cases, surgery or laser treatment may be required alongside drug therapy.

2. Surgical Options

Surgery is usually considered for neurological or eye complications caused by abnormal blood vessels. The main goals:

Reduce seizures.
Improve blood flow to the brain.
Protect vision from glaucoma-related damage.

A) Neurosurgery

Cortical resection: Removing the affected part of the brain to reduce seizure activity.
Revascularization surgery: Redirecting scalp blood vessels to supply the brain, improving blood flow and preventing further damage.

B) Eye Surgery

Glaucoma surgery (e.g., Trabeculectomy, Tube Shunt): Used when medications fail to lower eye pressure. Helps protect the retina and prevent blindness.

C) Before & After Surgery

Requires a specialized neurosurgical or ophthalmic team.
Careful follow-up is essential to monitor seizure control, eye pressure, and developmental progress.

Tip: Early surgical intervention for uncontrolled seizures or severe glaucoma can prevent permanent complications. The best results come from combining medication, surgery, and long-term medical follow-up.

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