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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 studies.

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 gyri).

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 relaxants).

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. It is thought to result from neuronal dysmigration in the cortex. Three types have been suggested: congenital, infantile, and childhood form. The disorder 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 51:307, 1994.  [PubMed: 8129645]

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