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Hemimegalencephaly (HME) is one of the extremely rare congenital malformations of cortical development (MCD). It belongs to the MCD group of mTOR-related pathologies and can be the result of various genetic disorders. One of the main clinical manifestations of HME is drug-resistant epilepsy requiring surgical treatment.Case report. This article describes a clinical case of HME in a 4-year-old boy with frequent generalized tonic-clonic seizures and drug-resistant epilepsy; also, he had speech development delay. MRI revealed a HME of the right frontal lobe. Stereotaxic laser disconnection of the large cortical dysplasia in the right frontal lobe of the brain was performed. Morphological features of focal cortical dysplasia type IIb (FCD IIb) were reported. No seizures were observed in the hospital follow up after the operation for 14 days. The whole exome DNA sequencing showed the presence of a heterozygous state _000008.10^G 68419028del / 633del, pGlu212LysfsTers of the CPA6 gene.Discussion. A feature of the case is the identified association of HME, morphologically represented by FCD IIb, with a previously unknown heterozygous state in the 6th exon of the CPA6 gene. This association allows to expand our understanding of changes in the activation of PI3K/AKT/mTOR pathway as a key link in the pathogenesis of congenital anomaly of cortical development.

Introduction. Cortical dysplasias (CDs) encompass a wide variety of disorders that in most cases lead to epilepsy, especially in infants and young children. MRI diagnosis of CDs is a major part of presurgical examination of pediatric patients with resistant focal epilepsy.Aim. To identify MR markers of CD in the immature brain and develop an MRI protocol for early diagnosis of CDs.Materials and methods. Children aged

This paper describes two cases of congenital bilateral perisylvian syndrome (CBPS), a rare disorder of late neuronal migration, which is characterized by language delay, intellectual disorders, epilepsy and bilateral perisylvian polymicrogyria. Pseudobulbar paralysis and orofacial muscles dyspraxia causing drooling and feeding difficulties are common for patients with CBPS. Communicational problems lead to low self-esteem and social maladaptation. Literature data regarding correlation between polymicrogyria topography and speech disorders and articulation impairment severity are presented. The results demonstrate the association of diffuse spreading of bilateral polymicrogyria and more severe speech disorders comparing to mild speech disorders in patients with more local polymicrogyria. Known etiology factors of this syndrome are bilateral cerebral hypoperfusion, brain damage while neuronal migration period, postmigrational vascular insults and gene mutations. Syndrome can be inherited in autosome dominant and X-linked manner. Speech apraxia with normal impressive speech, refractory epileptic seizures and status dysraphicus must be red flags for a physician regarding this syndrome. Overnight video-EEG monitoring and brain MRI confirm a thesis that this syndrome is underdiagnosed in everyday clinical practice.

Currently, there is no single standard defining what rhythmic activity should be considered as the area of ictal pattern onset. Differences in electroencephalographic patterns associated with different types of focal cortical dysplasias (FCDs) have not been defined. Aim - we aimed to identify features of the ictal onset pattern on a scalp EEG, depending on the histology, location, and extension of epileptogenic zone, as well as to elucidate the relationship between concordance of the interictal and ictal activity localization and ictal onset pattern types., Material and Methods: We studied scalp video-EEG monitoring data of 38 FCD patients who underwent surgical treatment for intractable epilepsy in the period between 2010 and 2016. We analyzed the data on interictal and ictal activity localization and compared them with the data on FCD types and lesion location., Results: Two types of the ictal onset pattern on EEG, local and generalized, were identified. The local and generalized types included two and four variants of the ictal onset pattern, respectively. Therefore, 6 combinations of rhythmic activity were identified, which manifested within the first 10 s after the onset of electrographic changes on EEG simultaneously with initial clinical manifestations of seizure. Co-localization of the interictal and ictal activity zones occurred in 42% of cases; of these, 88% of patients had the ictal onset pattern. In the remaining cases (58%), no co-localization of the interictal and ictal activity zones was detected; of these, 76% of patients were assigned to the group with the generalized ictal onset pattern. The local ictal onset pattern was more common in patients with type II FCD, while the generalized ictal onset pattern was more common in patients with type I and type III FCD. No correlation between the ictal onset pattern type and the lesion localization was found., Conclusion: We describe two ictal onset pattern types, local and generalized, on EEG in children with FCD. The co-localization of ictal and interictal activity zones prevails in the local ictal onset pattern group. The local ictal onset pattern is often associated with type II FCD. In the case of type I and type III FCD, the generalized ictal onset pattern predominates. There is no clear relationship between the ictal onset pattern type and the lesion location.