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Neurological manifestation of lysosomal storage disorders
Májovská, Jitka ; Magner, Martin (advisor) ; Fajkusová, Lenka (referee) ; Aulická, Štefania (referee)
Objective: Lysosomal storage disorders (LSD) represent a rare cause of neurologic impairment in childhood and adulthood. The aim of our study was to characterize patients with late-onset form of Tay-Sachs disease (LOTS) and alpha-mannosidosis (AM) and to identify typical brain MRI findings. Methods: Patients with a genetically or enzymatically confirmed diagnosis of LOTS or AM and at least one brain MRI examination were included in the study. Results: We have characterized the clinical manifestation in a unique cohort of 14 Czech patients with LOTS. As results of international cooperation, we also published analysis of neuroradiological findings in 16 patients with LOTS disease and 14 patients with AM. Patients with LOTS clinically manifested by cerebellar symptoms, progressive motor neuron disease and psychiatric symptoms. A novel pathogenic variant c.754C˃T in HEXA gene was described in two brothers. Disease was outlined by the slower disease course, milder weakness of lower limbs, milder cerebellar symptomatology and normal cognitive function in them. The hallmark of neuroradiological findings was the cerebellar atrophy in both LOTS and AM. It was the pontocerebellar atrophy in LOTS, the finding which is also typical for spinocerebellar ataxia or multiple system atrophy. The concurrent presence...
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The Effect of early treatment on psychomotor development in children with epileptic encephalopathy
Beňová, Barbora ; Kršek, Pavel (advisor) ; Příhodová, Iva (referee) ; Aulická, Štefania (referee)
Children with focal intractable epilepsy caused by MCD, FCD and TSC are in a high risk of development of cognitive delay, as a result of both drug resistant epilepsy and genetically determined abnormal structure of the neuronal networks. Epilepsy surgery represents an established and safe treatment method of focal drug resistant epilepsy, and increases the chances for these patients to be rid of epileptic seizures, anti-epileptic medication and cognitive comorbidities. Current data on genetic background of focal MCD and FCD and their comorbidities provide space to expand the diagnostic process in epilepsy surgery candidates. However, available information on genetic causes of MCD and FCD do not allow us to infer prognostic estimates on chances of seizure freedom and optimal cognitive development. Future studies should elucidate these uncertainties.
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Identification of the predictors of cognitive dysfunction in children with intractable epilepsy
Novák, Vilém ; Kršek, Pavel (advisor) ; Nevšímalová, Soňa (referee) ; Aulická, Štefania (referee)
Epilepsy affects approximately 0,5-1% of children. Epileptic seizures originate in and propagate along certain neural pathways involved in physiological processes of cognition. Consequently, cognitive impairment frequently accompanies epilepsy in childhood and contributes to diminished quality of life of these patients.The main goal of this PhD thesis was to study multiple aspects of cognitive impairment in children suffering from intractable focal epilepsy. In the first and primary study, we described for the first time the negative impact of quasi- periodic epileptiform discharges in sleep (termed "hurdles" in our work) on cognitive functions in children with focal structural epilepsy. We have also shown that epileptiform activity in sleep has a more prominent negative impact on cognitive functions than epileptiform activity in wake. Although "hurdles" are by definition generalized, they do not predict worse outcomes of epilepsy surgery, compared to controls. In the second study, we analyzed the relationship between the extent of epileptogenic zone, functional brain plasticity (evaluated by fMRI) and cognitive dysfunction in children with drug resistant temporal epilepsy. Comparing patients with isolated focal cortical dysplasia (FCD) and patients with combined pathology (FCD and hippocampal...
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The Effect of early treatment on psychomotor development in children with epileptic encephalopathy
Beňová, Barbora ; Kršek, Pavel (advisor) ; Příhodová, Iva (referee) ; Aulická, Štefania (referee)
Children with focal intractable epilepsy caused by MCD, FCD and TSC are in a high risk of development of cognitive delay, as a result of both drug resistant epilepsy and genetically determined abnormal structure of the neuronal networks. Epilepsy surgery represents an established and safe treatment method of focal drug resistant epilepsy, and increases the chances for these patients to be rid of epileptic seizures, anti-epileptic medication and cognitive comorbidities. Current data on genetic background of focal MCD and FCD and their comorbidities provide space to expand the diagnostic process in epilepsy surgery candidates. However, available information on genetic causes of MCD and FCD do not allow us to infer prognostic estimates on chances of seizure freedom and optimal cognitive development. Future studies should elucidate these uncertainties.
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