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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Bilateral perisylvian polymicrogyria


Other Names for this Disease
  • CBPS
  • Congenital bilateral perisylvian syndrome
  • Perisylvian syndrome
  • Perisylvian syndrome, congenital bilateral
  • PMGX
More Names
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Symptoms


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What are the signs and symptoms of bilateral perisylvian polymicrogyria?

Bilateral perisylvian polymicrogyria (BPP) may be apparent at birth, in infancy, or later during childhood.The main features associated with BPP are partial paralysis of the muscles on both sides of the face (facial diplegia), seizures, and mild to severe intellectual disability. In addition to partial paralysis of the facial muscles, the jaws, tongue and throat may also be affected; this may cause difficulty chewing, swallowing or pronouncing certain words and sounds. Some individuals also have sudden, involuntary muscle spasms in the face. In addition to intellectual disability, children with BPP may have delays in motor development.

CT and MRI studies of the brain may confirm the typical malformations in affected individuals, such as perisylvian malformations and abnormalities of the brain's deep folds and grooves. An analysis of speech may also reveal characteristic patterns among individuals with the condition, such as problems pronouncing certain vowels or noises.[1]
Last updated: 8/25/2011

References
  1. Perisylvian Syndrome, Congenital Bilateral. NORD. March 28, 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1067/viewAbstract. Accessed 8/25/2011.