Living with Congenital bilateral perisylvian syndrome
A rare brain condition where folds around the brain's Sylvian fissure form differently, affecting speech, swallowing, learning and seizures.
Understanding Congenital bilateral perisylvian syndrome
The brain's grooves form incorrectly, leading to many small extra folds. Symptoms appear at birth, in infancy or later in childhood. They can include weakness of the face, tongue, jaw and throat, trouble speaking and swallowing, and drooling. Many people have seizures and mild to severe intellectual disability.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness of the face, tongue, jaw and throat
- Trouble speaking and swallowing
- Seizures
- Mild to severe intellectual disability
- Delayed speech and language
- Muscle stiffness (spasticity)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
PMG Awareness Organization and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: PMG Awareness Organization, Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with PMG Awareness Organization and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It can be caused by changes in single genes or chromosome changes such as 22q11.2 deletion syndrome. It has also been reported with complications in twin pregnancies. GARD lists autosomal recessive inheritance.
Also known as: bilateral perisylvian polymicrogyria; perisylvian syndrome
Patient organizations
- PMG Awareness OrganizationCongenital bilateral perisylvian syndrome · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital bilateral perisylvian syndrome.
Explore research for Congenital bilateral perisylvian syndrome
Explore actively recruiting Congenital bilateral perisylvian syndrome studies with HealthSpark.
Find actively recruiting studies for Congenital bilateral perisylvian syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Congenital bilateral perisylvian syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Congenital bilateral perisylvian syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Congenital bilateral perisylvian syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.