The Epilepsy Institute of New Jersey is a team of board-certified neurologists and neurosurgeons who provide expert care for a variety of pediatric neurological conditions, including Sturge-Weber syndrome. Our team uses advanced diagnostic tools and innovative treatment techniques to ensure the best outcomes for your child.
The Physical Impact
Sturge-Weber syndrome (SWS) is a rare congenital neurological disorder that is often present at birth and typically affects one side of the brain. It is characterized by a port-wine stain (a reddish-purple birthmark) on the skin, as well as neurological issues such as seizures, developmental delays, and vision problems. The condition is caused by an abnormality in the blood vessels of the brain and skin, leading to overgrowth and abnormal circulation. The severity of symptoms can vary widely, depending on the extent of the vascular malformation and the affected areas of the brain.
How Common Is This Condition?
Sturge-Weber syndrome is an extremely rare condition, with an estimated incidence of about 1 in 50,000 to 1 in 200,000 live births. The syndrome affects both boys and girls equally and is typically identified early in life due to the distinctive facial birthmark. While seizures and neurological impairments are common, some children with Sturge-Weber syndrome may have only mild symptoms, while others may experience more severe challenges.
Risk Factors:
- Genetic mutation in the GNAQ gene (which is a spontaneous mutation, meaning it is not inherited)
- The condition is not typically associated with family history, as it is considered a sporadic disorder
- The severity of the condition can vary depending on the extent of the brain malformation and the location of the port-wine stain
Signs and Symptoms
Children with Sturge-Weber syndrome may experience a variety of neurological and physical symptoms, which can range in severity. Common signs and symptoms include:
- Port-wine stain: A birthmark on the face or head, often located around the eye and forehead, caused by abnormal blood vessels
- Seizures: Often the first sign of Sturge-Weber syndrome, these can be focal (affecting one side of the body) or generalized
- Hemiparesis: Weakness or paralysis on one side of the body, usually the side opposite to the brain abnormality
- Developmental delays: Cognitive or motor delays, which can vary in severity
- Vision problems: Due to glaucoma or other issues with the eyes, some children may experience vision loss or abnormal eye movements
- Migraine-like headaches: Often associated with vascular changes in the brain
- Behavioral and learning difficulties: These may be secondary to developmental delays or neurological impairments
How We Diagnose
At the Epilepsy Institute of New Jersey, diagnosing Sturge-Weber syndrome begins with a comprehensive evaluation of your child's medical history, symptoms, and the presence of the characteristic port-wine stain. Our diagnostic steps often include:
- MRI or CT Scans: Brain imaging is essential in identifying brain malformations, such as leptomeningeal angiomas, which are a hallmark of Sturge-Weber syndrome.
- Ophthalmologic Examination: A thorough eye exam helps detect glaucoma, which is common in children with SWS and can cause vision problems.
- EEG (Electroencephalogram): Used to detect abnormal brain activity and identify seizure activity in children with Sturge-Weber syndrome.
- Clinical History: Review of the child's birthmarks, developmental milestones, and seizure history helps establish the diagnosis.
Through these diagnostic tools, we can confirm a diagnosis of Sturge-Weber syndrome and work with you to create a personalized treatment plan that addresses your child's specific needs.
Treatment Options
Treating Sturge-Weber syndrome involves managing symptoms and preventing complications. Since the condition is progressive, early and ongoing treatment is crucial for maximizing your child's quality of life. Treatment may include:
- Anti-Seizure Medications: These are often the first line of treatment to control seizures and reduce their frequency and severity.
- Surgical Intervention: In some cases, surgery may be considered to remove parts of the abnormal blood vessels in the brain or to treat seizures that do not respond to medication.
- Glaucoma Treatment: Medications, laser therapy, or surgery may be used to manage glaucoma and prevent vision loss.
- Physical and Occupational Therapy: These therapies can help children with motor delays and hemiparesis improve their mobility and independence.
- Speech Therapy: To assist with language and communication delays.
- Behavioral Therapy: Support for learning difficulties and behavioral challenges, which may arise due to cognitive or neurological impairments.
At the Epilepsy Institute of New Jersey, we provide a multidisciplinary approach to care, ensuring that each child's treatment plan is tailored to their unique symptoms and needs. Our goal is to help your child live a fulfilling life by managing the effects of Sturge-Weber syndrome.
Our Commitment to Your Child's Health
“I am neurosurgeon living in New Jersey, board-certified by both the American Board of Neurosurgery (ABNS) and Pediatric Neurosurgery (ABPNS). I specialize in the surgical treatment of complex epilepsy and serve as the Director of the Epilepsy Institute of New Jersey, Chief of Pediatric Epilepsy Surgery at Sanzari Children's Hospital, and Chief of Pediatric Neurosurgery at Children's Hospital of NJ, where I provide exceptional care for children with complex neurological conditions. Your child's health and well-being are our top priorities.”
