Living with Porencephaly
A rare condition in which fluid-filled cysts or cavities form in the brain before or soon after birth.
Understanding Porencephaly
They form before or shortly after birth. How serious it is depends on the size, location and number of cysts. Common features include developmental delay, low muscle tone, seizures, a large head, weakness on one side of the body, speech problems and intellectual disability.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fluid-filled cavity in the brain
- Seizures
- Weakness or paralysis on one side of the body
- Stiff muscles (spasticity)
- Intellectual disability
- Cerebral palsy
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
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: 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 Child Neurology Foundation 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 is usually the result of damage from an infection or a stroke, and in those cases it happens by chance. A familial form is caused by changes in the COL4A1 or COL4A2 genes and is autosomal dominant, meaning one changed copy of the gene is enough.
Patient organizations
- Child Neurology FoundationPorencephaly · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Porencephaly.
Explore research for Porencephaly
Explore actively recruiting Porencephaly studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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