An overview of the literature and clinical cases of epilepsy in Down syndrome (DS) is presented. Epilepsy in DS has a bimodal distribution with two peaks: before 5 years of age and after 40 years. In childhood, the most common epileptic syndrome is infantile epileptic spasms syndrome. First-line treatment includes vigabatrin and corticosteroids.
The second peak of epilepsy occurs after the age of 40 and is associated with the coexistence of epilepsy and Alzheimer’s disease, which is known as late-onset myoclonic epilepsy in DS, the seizure semiology of which is similar to that of juvenile myoclonic epilepsy.
Clinical cases of patients with infantile epileptic spasms syndrome and DS successfully treated with vigabatrin are presented. Comorbidities in DS include a high prevalence of obstructive sleep apnea syndrome, increased carbonic anhydrase type 2 activity, and the presence of myoclonic seizures similar to those in juvenile myoclonic epilepsy. These features support the use of sultiame as a pathogenetically justified drug for the treatment of epilepsy in patients with AD.
A clinical case of a patient with DS is presented, in whom sultiame demonstrated high efficacy and good tolerability, as well as a positive impact on development and behavior
M. Bobylova, S. Burd, T. R. Tomenko et al.· Russian Journal of Child Neu...· 0 citations
Neurofibromatosis type 1 is an inherited neurocutaneous disorder occurring with an incidence of 1 in 2,000–4,000 newborns. Epilepsy is one of its neurological manifestations; however, data on its frequency, pathogenesis, and treatment approaches have not been fully elucidated. Aim: to summarize current data on the pathogenesis, clinical features, diagnosis and treatment of epilepsy in type I neurofibromatosis based on literature analysis and the results of our own prospective patient observation.
This article presents an analysis of current literature on epilepsy in neurofibromatosis type 1, including data on molecular mechanisms (the «second hit», hyperactivation of the Ras/Raf/MAPK and PI3K-mTOR pathways). In addition, we present the results of a prospective observational study of 724 patients with neurofibromatosis type 1 (aged 1 to 19 years) from 2021 to 2026. According to the literature, the prevalence of epilepsy in neurofibromatosis type 1 ranges from 4% to 14%. Focal seizures predominate (up to 83%). In our own cohort (n=724), epileptiform activity was recorded in 34 patients (4.7%), and epilepsy was diagnosed in 28 of these (82.4% of those with epileptiform activity). Among patients with epilepsy (n=28), focal seizures prevailed (82.1%), while structural changes on magnetic resonance imaging (MRI) were identified in only 14.3% of cases, which is consistent with international data. Remission was achieved in 67.9% of patients. The article also presents a clinical case of a 14-year-old patient with neurofibromatosis type 1, plexiform neurofibromas, and photosensitive focal epilepsy. Epilepsy in neurofibromatosis type 1 is relatively uncommon, but establishing the diagnosis and determining treatment strategies requires mandatory additional investigations, including MRI and video-EEG monitoring. The pathogenesis involves a combination of structural changes (gliomas, cortical dysplasias, hippocampal sclerosis) and molecular neuronal dysfunction resulting from hyperactivation of the Ras-MAPK and PI3K-mTOR pathways. The prognosis is generally favourable, and clinical remission can be achieved in most cases. Surgical treatment options should be considered in drug resistant forms of epilepsy. Patients with negative MRI findings are potential candidates for pathogenetic therapy with MEK inhibitors.
A. M. Pivovarova, Z. K. Gorchkhanova· L O Badalyan Neurological Jo...· 0 citations
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