Perisylvian syndrome, bilateral, congenital
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See also polymicrogyrias
It is the most frequent form of polymicrogyria: it is bilateral, symmetric, and localized around the sylvian fissures (bilateral perisylvian polymicrogyria). Most cases are sporadic but there are familial cases with all modes of heredity.
Two genetic forms have been identified:
1. an X-linked form (Xq28)
2. a form associated with mutations of the GPR56 gene on chromosome 16. There are non-genetic forms due to intrauterine cytomegalovirus infections or to placental perfusion abnormalities.
Clinical picture:
- epilepsy, most often resistant to treatment: tonico-clonic seizures and/or frequent absence seizures
- slight to moderate mental retardation
- diplegia of the muscles of the face, jaws and pharynx causing feeding and/or speech learning difficulties.
Anesthetic implications:
mental retardation, epilepsy, side-effects of the antiepileptic treatment.
References :
- Quelin C, Poirier K, Bahi-Buisson N.
Les polymicrogyries : des formes isolées aux syndromes polymicrogyriques.
Neurone 2012 ; 17 : 16-22.
Updated: June 2019