Rare Gastroenterology News

Disease Profile

Periventricular heterotopia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Childhood

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ICD-10

Q04.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Periventricular nodular heterotopia; PVNH

Categories

Congenital and Genetic Diseases; Nervous System Diseases

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]

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]

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.

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
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

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.

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 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]

    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

      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

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

        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.

          References

          1. Sheen VL, Bodell A & Walsh CA. X-Linked Periventricular Heterotopia. GeneReviews. September 17, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1213/.
          2. Periventricular heterotopia. Genetics Home Reference (GHR). November, 2007; https://ghr.nlm.nih.gov/condition/periventricular-heterotopia.
          3. 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. https://www.ncbi.nlm.nih.gov/pubmed/23254583. Accessed 8/11/2015.
          4. Esquenazi Y & cols. Stereotactic laser ablation of epileptogenic periventricular nodular heterotopia. Epilepsy. January 30, 2014; 108(3):547-54. https://www.ncbi.nlm.nih.gov/pubmed/24518890. Accessed 8/11/2015.

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