Bilateral perisylvian polymicrogyria

Title

Other Names:

Perisylvian syndrome; Polymicrogyria, bilateral perisylvian; Congenital bilateral perisylvian syndrome; Perisylvian syndrome; Polymicrogyria, bilateral perisylvian; Congenital bilateral perisylvian syndrome; CBPS; Perisylvian syndrome, congenital bilateral; PMGX See More

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

Bilateral perisylvian polymicrogyria (BPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). Signs and symptoms include partial paralysis of muscles on both sides of the face, tongue, jaws, and throat; difficulties in speaking, chewing, and swallowing; and/or seizures. In most cases, mild to severe intellectual disability is also present.^[1]^[2] While the exact cause of BPP is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases of BPP occur sporadically in people with no family history of the disorder; however, more than one family member may rarely be affected by the condition. Treatment is based on the signs and symptoms present in each person.^[3]^[1]

Last updated: 6/7/2015

Symptoms Symptoms

The signs and symptoms of bilateral perisylvian polymicrogyria (BPP) vary but may include:^[1]^[2]

Partial paralysis of muscles on both sides of the face, tongue, jaws, and throat
Dysarthria
Difficulty chewing
Dysphagia
Mild to severe intellectual disability
Seizures and/or epilepsy
Sudden, involuntary spasms of facial muscles
Developmental delay

Last updated: 6/5/2015

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Atypical absence seizures	-
Cognitive impairment	-
Delayed speech and language development	-
Dyslexia	-
Generalized tonic-clonic seizures	-
Polymicrogyria	-
Pseudobulbar paralysis	-
X-linked dominant inheritance	-

Last updated: 9/1/2016

Cause Cause

The exact underlying cause of bilateral perisylvian polymicrogyria (BPP) is unknown. The signs and symptoms associated with the condition are thought to be due to improper development of the outer surface of the brain (cerebral cortex) during embryonic growth. The cerebral cortex, which is responsible for conscious movement and thought, normally consists of several deep folds (gyri) and grooves (sulci). However, in people affected by BPP, the cerebral cortex has an abnormally increased number of gyri that are unusually small. Scientists believe that these abnormalities occur when newly developed brain cells fail to migrate to their destined locations in the outer portion of the brain.^[1]

Specific non-genetic causes of polymicrogyria have been recognized, including exposure to cytomegalovirus infection (CMV) during pregnancy. Polymicrogyria has also been associated with certain complications in twin pregnancies.^[1]^[4]

Last updated: 6/7/2015

Inheritance Inheritance

In most cases, bilateral perisylvian polymicrogyria (BPP) occurs sporadically in people with no family history of the condition.^[1]^[4]

Rarely, more than one family member may be affected by BPP.^[1]^[4] These cases may follow an autosomal dominant, autosomal recessive, or X-linked pattern of inheritance.^[3]

Last updated: 6/7/2015

Diagnosis Diagnosis

Genetic testing is not available for bilateral perisylvian polymicrogyria because the underlying genetic cause is unknown.

Last updated: 6/7/2015

A diagnosis of bilateral perisylvian polymicrogyria (BPP) is typically based on a thorough physical examination, a detailed medical history and a complete neurological evaluation, which many include the following tests:^[3]^[1]

Last updated: 6/7/2015

Treatment Treatment

There is no cure for bilateral perisylvian polymicrogyria (BPP). Treatment is generally based on the signs and symptoms present in each person. For example, medications may be prescribed to treat seizures and/or epilepsy. People affected by BPP may also benefit from physical therapy, occupational therapy and/or speech therapy.^[3]^[1]

Please speak with a healthcare provider for more specific information regarding personal medical management.

Last updated: 6/7/2015

Management Guidelines

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.

Do you have updated information on this condition? Let us know.

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

The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
The Christopher A. Walsh Laboratory is interested in the development of the cerebral cortex. Abnormal development of the cerebral cortex in humans results in epilepsy, autism, mental retardation, dyslexia, and other learning disorders, and perhaps some psychiatric conditions as well. Several of their projects are directed at trying to understand the basic biology of the cortex by studying the mutations that disturb its development. Conditions that they are currently researching include: double cortex syndrome, periventricular heterotopia, schizencephaly, perisylvian polymicrogyria and Walker Warburg syndrome. Click on the link above to access further information about this research.
The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a trial titled Human Epilepsy Genetics--Neuronal Migration Disorders Study which may be of interest to you. To find this trial, click on the link above.
The Cortical Foundation provides information on participating in research for cortical malformations of the brain.

Organizations Organizations

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their 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/
Cortical Foundation
PO Box 340894
Austin, TX 78734
Telephone: +1 (512) 256-3855
E-mail: info@cortfoundation.org
Website: http://cortfoundation.org/cms/
PMG Awareness Organization, Inc.
P.O. Box 37518
Jacksonville, FL 32236
Telephone: +1 (612) 440-7642
E-mail: information@pmgawareness.org
Website: http://pmgawareness.org/

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

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 Bilateral perisylvian polymicrogyria. This website is maintained by the National Library of Medicine.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

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.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
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 Bilateral perisylvian polymicrogyria. Click on the link to view a sample search on this topic.

News & Events News & Events

News

GARD Information Navigator
May 10, 2016

Related Diseases Related Diseases

The following diseases are related to Bilateral perisylvian polymicrogyria. If you have a question about any of these diseases, you can contact GARD.

Polymicrogyria

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. Submit a new question

What is bilateral frontoparietal polymicrogyria? What are its symptoms? How is it different from bilateral perisylvian polymicrogyria in how it presents and what symptoms we see? See answer
If a child is the only one affected with perisylvian syndrome in his family, can the inheritance of the syndrome be determined? Would perisylvian syndrome in a male child come from the mother or the father, or both? Is genetic testing for this syndrome available? See answer

Have a question? Contact a GARD Information Specialist.

References References

Congenital Bilateral Perisylvian Syndrome. NORD. 2015; http://rarediseases.org/rare-diseases/congenital-bilateral-perisylvian-syndrome/.
Kilinc O, Ekinci G, Demirkol E3, Agan K. Bilateral agenesis of arcuate fasciculus demonstrated by fiber tractography in congenital bilateral perisylvian syndrome. Brain Dev. March 2015; 37(3):352-355.
Chang B, Walsh CA, Apse K & Bodell A. Polymicrogyria Overview. Gene Reviews. August 6, 2007; http://www.ncbi.nlm.nih.gov/books/NBK1329/. Accessed 3/9/2015.
POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED. OMIM. April 2014; http://www.omim.org/entry/300388.