Periventricular heterotopia

Información en español Title

Other Names:

Periventricular nodular heterotopia; PVNH

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Subtypes:

X-linked periventricular heterotopia

Summary Summary

Periventricular heterotopia is a condition in which the nerve cells (neurons) do not migrate properly during early development of the fetal brain. People with this condition typically develop recurrent seizures (epilepsy) beginning in mid-adolescence.^[1] Intelligence is usually normal, but some people may have mild intellectual disability, including difficulty with reading or spelling. Less common features include microcephaly, developmental delay, recurrent infections, and blood vessel abnormalities.^[2] Some cases are caused by changes (mutations) in the FLNA gene and are inherited in an X-linked dominant manner. Other cases are caused by mutations in the ARFGEF2 gene and are inherited in an autosomal recessive manner. Rarely, periventricular heterotopia is associated with a duplication of genetic material on chromosome 5. Treatment is generally focused on managing recurrent seizures with medications.^[1]^[2]

Last updated: 10/6/2015

Symptoms Symptoms

The condition is first noticed when seizures appear, often during the teenage years. Characteristic nodules around the ventricles of the brain are then typically discovered when magnetic resonance imaging (MRI) studies are done. Patients usually have normal intelligence, although some have mild intellectual disability. Difficulty with reading and spelling has been reported in some girls with periventricular heterotopia. Less commonly, people with periventricular heterotopia may have more severe brain malformations, small head size (microcephaly), developmental delays, recurrent infections, blood vessel abnormalities, or other problems.^[1]^[2]

The X-linked form of periventricular heterotopia usually affects females because in males, the severity may cause death before birth. Additional features that have been reported in this form include heart anomalies, stomach immobility, strabismus, short fingers, and dyslexia.^[1]

The autosomal recessive form is severe and may cause severe developmental delay and seizures beginning in infancy.^[2]

Periventricular heterotopia may also occur in association with other conditions such as Ehlers-Danlos syndrome (Ehlers-Danlos with periventricular heterotopia), which also results in extremely flexible joints, skin that stretches easily, and fragile blood vessels.^[1]

Last updated: 8/11/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal bleeding	Bleeding tendency	0001892
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
Hernia		0100790
Pyloric stenosis		0002021
Scoliosis	Abnormal curving of the spine	0002650
30%-79% of people have these symptoms
Abnormal heart valve morphology		0001654
Aortic regurgitation		0001659
Focal-onset seizure	Seizure affecting one half of brain	0007359
Joint hypermobility	Double-Jointed Flexible joints Increased mobility of joints [ more ]	0001382
Patent ductus arteriosus		0001643
Periventricular heterotopia		0007165
Thin skin		0000963
5%-29% of people have these symptoms
Aortic aneurysm	Bulge in wall of large artery that carries blood away from heart	0004942
Patellar dislocation	Dislocated kneecap	0002999
Shoulder dislocation		0003834

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 8/1/2019

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

The following evaluations are recommended:^[1]

• Imaging exams of the brain to establish the diagnosis
• Evaluation by a neurologist
• Evaluation by a doctor specialized in epilepsy if seizures are present
• Psychiatric evaluation if necessary
• Magnetic resonance angiography (MRA) of the brain vessels, carotid arteries, and aorta because of the risk for stroke
• Evaluation by a cardiologist and either echocardiogram or a heart magnetic resonance imaging (MRI) because of the risk for aortic aneurysm
• Evaluation by a hematologist if findings suggest a bleeding diathesis.

Last updated: 8/11/2015

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment

Treatment of epilepsy generally follows principles for a seizure disorder caused by a known structural brain abnormality. Carbamezipine is most often used, because most people with this condition have focal seizures. However, the choice of antiepileptic drug may be selected based on side effects, tolerability, and efficacy.^[1]

It is recommended that people with the X-linked form of the condition have studies evaluating the carotid artery and an abdominal ultrasound, due to the risk for aortic or carotid dissection or other vascular anomalies.^[1]

Treatment may also include surgery for removal of the lesion and more recently, laser ablation guided with magnetic resonance.^[3]^[4]

Last updated: 8/11/2015

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Periventricular heterotopia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Brain Foundation
P O Box 579
Crows Nest, NSW
1585 Suite 21
Regent House 37-43
Alexander Street Crows Nest, NSW 2065
Australia
Telephone: 61 2 9437 5967
Fax: 61 2 9437 5978
E-mail: http://brainfoundation.org.au/contact
Website: http://www.brainfoundation.org.au/

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Periventricular heterotopia. This website is maintained by the National Library of Medicine.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Periventricular heterotopia. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References

Sheen VL, Bodell A & Walsh CA. X-Linked Periventricular Heterotopia. GeneReviews. September 17, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1213/.
Periventricular heterotopia. Genetics Home Reference (GHR). November, 2007; https://ghr.nlm.nih.gov/condition/periventricular-heterotopia.
Agari T, Mihara T, Baba K, Kobayashi K, Usui N, Terada K, Nakamura F, Matsuda K & Date I. Successful treatment of epilepsy by resection of periventricular nodular heterotopia. Acta Med Okayama. 2012; 66(6):487-92. http://www.ncbi.nlm.nih.gov/pubmed/23254583. Accessed 8/11/2015.
Esquenazi Y & cols. Stereotactic laser ablation of epileptogenic periventricular nodular heterotopia. Epilepsy. January 30, 2014; 108(3):547-54. http://www.ncbi.nlm.nih.gov/pubmed/24518890. Accessed 8/11/2015.