Living with Familial porencephaly
An inherited brain condition with fluid-filled cysts, linked to fragile blood vessels, that can cause seizures and weakness on one side.
Understanding Familial porencephaly
The cysts form during fetal development or soon after birth, usually on one side of the brain. They are thought to come from bleeding in the brain. Infants often have weakness or paralysis on one side. Some people also have seizures, migraines, speech problems, intellectual disability, or dystonia. Others may have no brain-related symptoms.
Signs & symptoms
GARD doesn't list a separate symptom list. Its summary describes:
- Fluid-filled brain cysts (porencephaly)
- Weakness on one side in infancy (hemiplegia)
- Seizures (epilepsy)
- Migraine headaches
- Speech problems
- Uncontrolled muscle tensing (dystonia)
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 part of the COL4A1-related disorders, which involve fragile blood vessels. It is autosomal dominant, which means one changed copy of the gene is enough.
Also known as: familial porencephalic cyst; hereditary porencephaly
Patient organizations
- Child Neurology FoundationFamilial porencephaly · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial porencephaly.
Explore research for Familial porencephaly
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