Clinical and morphological analysis of cortical dysplasias accompanied by epileptic syndromes and symptomatic epilepsy in children

Abstract

Clinical and morphological correlations in the group of corticaldysplasias accompanied by the development of an epilepticsyndrome were performed based on 50 autopsies. The diagnosisof microcephaly was confirmed in 40 patients who died; polymicrogyriawas detected in 6 cases; holoprosencephaly was detectedin 4 cases. Analysis of the consequences of paroxysmalneurological disorders revealed that the West syndrome in thefirst year of life dominated in 32% of died patients with corticaldysplasias, myoclonic epilepsy of infancy in 4% of the cases,and the Ohtahara syndrome in 4% of the cases. The severity ofepilepsy progression was determined by the onset age and thestructure of epileptic seizures. Motor and cognitive disorders ofvarying severity were noted in all patients with cortical dysplasias.Associated developmental anomalies of the internal organs werefound in 100% of the cases. Microcephaly was combined withother congenital brain anomalies in 62.5% of the cases, whilepolymicrogyria and holoprosencephaly in 100% of the cases.A histological examination of the brain of dead patients withmicrocephaly, polymicrogyria, and holoprosencephaly revealeda number of common features, including a reduction in the numberand density of neurons, abnormalities of the cortical cytoarchitecture,and the presence of large dysmorphic neurons. Thesefindings confirm the fact that these forms of pathology belongto the group of cortical dysplasias.

Keywords

• cortical dysplasias
• microcephaly
• polymicrogyria
• holoprosencephaly
• cortical cytoarchitecture abnormality
• autopsy