Living with Periventricular nodular heterotopia
A brain condition in which nerve cells clump near the fluid spaces of the brain instead of moving to their place, often showing up as seizures.
Understanding Periventricular nodular heterotopia
These cells form clumps (nodules) around the fluid-filled cavities in the brain. It usually becomes evident when seizures begin, often in the teenage years. Most people have normal intelligence, though some have mild intellectual disability, reading difficulty, or movement problems. It can occur with other conditions, such as Ehlers-Danlos syndrome.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures that start in one area of the brain
- Clumps of nerve cells near the brain's fluid spaces
- Double-jointed (flexible) joints
- Curved spine (scoliosis)
- Heart valve differences
- Acid reflux or hernia
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 Epilepsy Foundation
- 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
Changes in the genes (also called variants) cause this condition. GARD lists autosomal dominant, autosomal recessive, and X-linked inheritance. It doesn't name a specific gene.
Also known as: periventricular heterotopia; pvnh; pvnh - periventricular nodular heterotopia
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Periventricular nodular heterotopia.
Explore research for Periventricular nodular heterotopia
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