Bilateral perisylvian polymicrogyria

What causes bilateral perisylvian polymicrogyria?

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). 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.

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

Single gene disorders that have been associated with BPP include:

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.

Last updated on 05-01-20

How is bilateral perisylvian polymicrogyria diagnosed?

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:

Last updated on 05-01-20

Is bilateral perisylvian polymicrogyria inherited?

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. The inheritance in each of these cases depends on the underlying cause of BPP and may be autosomal dominant, autosomal recessive, or X-linked.

Last updated on 05-01-20

What is bilateral frontoparietal polymicrogyria?

Bilateral frontoparietal polymicrogyria (BFPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). BFPP specifically affects the frontal and parietal lobes on both sides of the brain (bilateral). Signs and symptoms typically include moderate to severe intellectual disability, developmental delay, seizures, cerebellar ataxia, strabismus, and dysconjugate gaze (eyes that are not aligned). Some cases are caused by mutations in the GPR56 gene and are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

Last updated on 05-01-20

How might bilateral perisylvian polymicrogyria be treated?

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.

Last updated on 05-01-20

Name: Brain Foundation P O Box 579 Crows Nest, NSW
1585 Suite 21 Regent House 37-43 Alexander Street Crows Nest, NSW 2065
Australia
Phone: 61 2 9437 5967 Fax : 61 2 9437 5978 Email: http://brainfoundation.org.au/contact Url: http://www.brainfoundation.org.au/
Name: PMG Awareness Organization 15642 Sand Canyon Avenue Unit 51235
Irvine, CA, 92619, United States
Phone: (949) 329-5975 Email: information@pmgawareness.org Url: http://pmgawareness.org/

Connect with other users with Bilateral perisylvian polymicrogyria on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App