Bilateral perisylvian polymicrogyria

Información en español 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

This disease is grouped under:

Polymicrogyria

Summary Summary

Bilateral perisylvian polymicrogyria (BPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). BPP is a subtype of a broader condition known as polymicrogyria. The cerebral cortex of the brain normally consists of several deep folds and grooves. In BPP, the grooves that develop during embryonic growth form improperly on both sides of the brain near the Sylvian fissure, resulting in an increased number of folds that are unusually small.^[1] Signs and symptoms typically become apparent at birth, infancy, or later during childhood, and may include partial paralysis of the face, tongue, jaw, and throat; problems with speech and swallowing; excessive drooling; and seizures. Mild to severe intellectual disability often is also present. Some people with BPP have other health problems or birth defects.^[1]^[2]^[3]^[4] Most cases of BPP occur sporadically in people with no family history of BPP. Rarely, more than one family member has BPP, and the pattern of inheritance depends on the cause. Genetic causes may include mutations in single genes and contiguous gene disorders such as 22q11.2 deletion syndrome. BPP has also been reported in association with twin pregnancy complications.^[1]^[3]^[5]^[6]^[7] The diagnosis of BPP is based on the symptoms present and a thorough neurological evaluation including various imaging techniques. Treatment aims to address individual symptoms present in each person.^[1]^[4] For example, anti-seizure medications may help control seizures.^[1] The quality of life and life expectancy for people with BPP are not well-described but may depend on severity of symptoms, whether complications develop, and whether other birth defects or an underlying syndrome are present.^[3]

Last updated: 11/26/2018

Symptoms Symptoms

Signs and symptoms of bilateral perisylvian polymicrogyria (BPP) usually are apparent at birth or become apparent during infancy or childhood. The signs and symptoms, and severity, vary from person to person but may include:^[1]^[2]^[3]^[4]^[6]

Partial paralysis of muscles on both sides of the face, tongue, jaw, and throat
Sudden, involuntary spasms of facial muscles
Excessive drooling
Difficulty with sucking, chewing, and/or swallowing (dysphagia)
Difficulty with speech (dysarthria)
Seizures
Mild spasticity of the limbs (spastic tetraplegia)
Developmental delay or learning impairments
Mild to severe intellectual disability
Contractures present from birth (congenital)

Various other health problems or birth defects may occur in people with BPP, depending on whether an underlying genetic disorder with additional associated symptoms is present.^[1]^[2]

Last updated: 11/26/2018

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
Bilateral perisylvian polymicrogyria		0032407
30%-79% of people have these symptoms
Delayed speech and language development	Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ]	0000750
Distal arthrogryposis		0005684
EEG with central focal spikes		0012014
EEG with parietal focal spikes		0012017
EEG with polyspike wave complexes		0002392
Global developmental delay		0001263
Hyperreflexia	Increased reflexes	0001347
Infantile muscular hypotonia	Decreased muscle tone in infant	0008947
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Language impairment		0002463
Perisylvian predominant thick cortex pachygyria		0020190
Specific learning disability		0001328
5%-29% of people have these symptoms
Abnormality of masticatory muscle		0410011
Apnea		0002104
Aspiration		0002835
Cerebellar dysplasia		0007033
Cerebellar vermis hypoplasia		0001320
Choanal atresia	Blockage of the rear opening of the nasal cavity Obstruction of the rear opening of the nasal cavity [ more ]	0000453
Drooling	Dribbling	0002307
Dysmetria	Lack of coordination of movement	0001310
Ectopic posterior pituitary		0011755
EEG with frontal focal spikes		0012015
Facial diplegia		0001349
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
Focal sensory seizure		0011157
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Infantile spasms		0012469
Intrauterine growth retardation	Prenatal growth deficiency Prenatal growth retardation [ more ]	0001511
Limb hypertonia	Increased muscle tone of arm or leg	0002509
Lower limb spasticity		0002061
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Oromotor apraxia		0007301
Paraparesis	Partial paralysis of legs	0002385
Pectus excavatum	Funnel chest	0000767
Protruding tongue	Prominent tongue Tongue sticking out of mouth [ more ]	0010808
Pseudobulbar paralysis		0007024
Spastic tetraplegia		0002510
Percent of people who have these symptoms is not available through HPO
Atypical absence seizure		0007270
Bilateral tonic-clonic seizure	Grand mal seizures	0002069
Cognitive impairment	Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ]	0100543
Dyslexia	Reading disability	0010522
Polymicrogyria	More grooves in brain	0002126
X-linked dominant inheritance		0001423

Showing of 47 |

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

Last updated: 2/1/2021

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

Cause Cause

There are multiple possible causes of bilateral perisylvian polymicrogyria (BPP), and the cause can vary from person to person. In some cases, the cause may not be known. Genetic causes may include a contiguous gene disorder (a disorder caused by the deletion of multiple adjacent genes) or a single gene disorder (a disorder caused by a mutation in one gene).^[4] BPP may also have non-genetic causes. It has been reported in association with complications in twin pregnancies, including twin–twin transfusion syndrome and intrauterine death of a co‐twin. It has additionally been reported in association with amniotic band syndrome.^[6]^[7]

Contiguous gene disorders that have been associated with BPP include 22q11.2 deletion syndrome and 1p36 deletion syndrome.^[4]

Single gene disorders that have been associated with BPP include:^[4]

MPPH syndrome - caused by a mutation in the AKT3, CCND2, or PIK3R2 genes
Smith-Kingsmore syndrome - caused by a mutation in the MTOR gene
MCAP syndrome - caused by mutations in the PIK3CA gene
Lissencephaly - caused by a mutation in the TUBA1A gene
Weaver syndrome - caused by a mutation in the EZH2 gene

Single genes in which mutations have been associated with BPP (but not necessarily a defined disorder or syndrome) include the EOMES, NEDD4L, and ADGRG1 genes.^[4]^[8]

Last updated: 11/26/2018

Inheritance Inheritance

In most cases, bilateral perisylvian polymicrogyria (BPP) occurs sporadically in people with no family history of BPP. Less commonly, BPP is inherited, and more than one family member may have BPP.^[1] The inheritance in each of these cases depends on the underlying cause of BPP and may be autosomal dominant, autosomal recessive, or X-linked.^[4]

Last updated: 11/26/2018

Diagnosis Diagnosis

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 may include tests such as:^[1]^[4]

Magnetic resonance imaging (MRI) - a diagnosis of polymicrogyria is usually made by MRI because MRI typically can detect the small folds in the brain more effectively than other imaging techniques.
Electroencephalography (EEG) - a test that measures electrical activity in the brain
Computed tomography (CT) scanning
Genetic testing - different types of genetic tests may be performed to determine if there is a genetic cause for the BPP.

Last updated: 11/26/2018

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

The characteristics of the brain that define bilateral perisylvian polymicrogyria (BPP) cannot be corrected, but there are treatments or therapies that aim to improve the signs and symptoms of BPP. For example, anti-seizure medications may be prescribed to control seizures. People with BPP may also benefit from physical therapy and/or speech therapy.^[1]

Last updated: 11/26/2018

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare 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 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 MedlinePlus Genetics.

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, intellectual disability, 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.

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/
PMG Awareness Organization
4533 MacArthur Boulevard
Suite 5182
Newport Beach, CA 92660
Telephone: (949) 329-5975
E-mail: information@pmgawareness.org
Website: http://pmgawareness.org/

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 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

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.
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.

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

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 E & Agan K. Bilateral agenesis of arcuate fasciculus demonstrated by fiber tractography in congenital bilateral perisylvian syndrome. Brain Dev. March 2015; 37(3):352-355. https://www.ncbi.nlm.nih.gov/pubmed/24852949.
Stutterd CA, Leventer RJ. Polymicrogyria: a common and heterogeneous malformation of cortical development. Am J Med Genet C Semin Med Genet. June, 2014; 166C(2):227-239. https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.c.31399.
Stutterd CA, Dobyns WB, Jansen A, Mirzaa G, Leventer RJ. Polymicrogyria Overview. GeneReviews. August 16, 2018; https://www.ncbi.nlm.nih.gov/books/NBK1329/.
Guerrini R, Marini C. Genetic malformations of cortical development. Exp Brain Res. August, 2006; 173(2):322-333. https://www.ncbi.nlm.nih.gov/pubmed/16724181.
Clark M, Neville BG. Familial and genetic associations in Worster-Drought syndrome and perisylvian disorders. Am J Med Genet A. January 1, 2008; 146A(1):35-42. https://www.ncbi.nlm.nih.gov/pubmed/17994559.
Guerrini R, Filippi T. Topical Review: Neuronal Migration Disorders, Genetics, and Epileptogenesis. J Child Neurol. April, 2005; 20(4):287-299. https://journals.sagepub.com/doi/abs/10.1177/08830738050200040401.
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive; BPPR. Online Mendelian Inheritance in Man (OMIM). April 22, 2014; https://www.omim.org/entry/615752.