Neurologic syndrome with mental retardation, epilepsy,
and enlarged gyri (pachygyria).
Pachygyria Mental Retardation Epilepsy.
Two brothers have been described with this disease.
Presumed autosomal recessive inheritance. Normal chromosomal
Severe nonprogressive encephalopathy
characterized by impairment of motor and intellectual development with
atypical, absence, and generalized tonic-clonic seizures. The parietal cortex
was enlarged to 10 to 12 mm on MRI, which suggested pachygyria (enlarged
Type, severity, and control of seizure
disorder should be evaluated. Antiepileptics should be continued throughout
the perioperative period. Some antiseizure medications affect the
pharmacodynamic properties of some commonly used anesthetic drugs
(e.g., phenytoin increases the requirements for nondepolarizing muscle
Congenital Bilateral Perisylvian Syndrome: This disorder is characterized by diplegia of the face, tongue, jaws,
and pseudobulbar palsy, dysarthria, inability to chew, dysphagia, and
epilepsy. In most cases, mild-to-severe mental retardation is present.
The clinical picture is influenced by the age of onset.
thought to result from neuronal dysmigration in the cortex.
Three types have been suggested: congenital, infantile, and
appears to occur sporadically. Histopathologically, polymicrogyria
with cortical thickness of 5 to 7 mm can be demonstrated.
Double Cortex Syndrome: Clinically similar, but differentiated by the
presence of a band of subcortical heterotopic gray matter underlying the
cortical mantle. This disorder must be considered to be transmitted in an X-linked dominant
way causing classic lissencephaly with severe mental retardation and epilepsy in
hemizygous males and subcortical laminar heterotopia associated with milder
mental retardation and epilepsy in heterozygous females.
Kuzniecky R: Familial diffuse cortical dysplasia. Arch Neurol