[Epilepsy surgery in children with tuberous sclerosis]. / Khirurgicheskoe lechenie epilepsii u detei s tuberoznym sklerozom.

Most children with tuberous sclerosis (TS) present with intractable seizures. Various factors including demography, clinical data and surgery option are mentioned to affect the outcome after epilepsy surgery in these cases. OBJECTIVE: To evaluate some demographic and clinical variables probably related to seizure outcome. MATERIAL AND METHODS: Thirty-three children, median age 4.2 ys (7.5 mths-16 ys), with TS and DR-epilepsy underwent surgery. Within overall 38 procedures (redo surgery was needed in 5 cases), tuberectomy (with or without perituberal cortectomy) was performed in 21 cases, lobectomy - 8, callosotomy - 3, various disconnections (anterior frontal, TPO and hemispherotomy) - 6 patients. Standard preoperative evaluation included MRI and video-EEG. Invasive recordings were used in 8 cases, coupled by MEG and SISCOM SPECT in some cases. ECOG and neuronavigation were used routinely during tuberectomies, and stimulation and mapping were employed in cases with lesions overlapping or near to eloquent cortex. Surgical complications: wound CSF leak (n=1) and hydrocephalus (n=2) were noted in 7.5% of cases. Postoperative neurological deficit (most frequently hemiparesis) developed in 12 patients, being temporary in majority of them. At the last FU (med 5.4 ys) favorable outcome (Engel I) has been achieved in 18 cases (54%), while 7 patients (15%) with persisting seizures reported less common attacks and their milder form (Engel Ib-III). Six patients were able to discontinue AED-treatment and 15 children resumed development and markedly improved in cognition and behavior. RESULTS AND CONCLUSION: Among different variables potentially influencing the outcome after epilepsy surgery in cases with TS, the most important one is seizure type. If prevalent, focal type may be a biomarker of favorable outcomes and probability to become free of seizures.

[Why the diagnosis of Lennox-Gastaut syndrome is a rare one?] / Pochemu tak redko stavitsia diagnoz sindroma Lennoksa-Gasto?

The review addresses the problem of the diagnosis of Lennox-Gastaut syndrome, a severe epileptic encephalopathy. Despite the presence of a vivid clinical and encephalographic picture, classical Lennox-Gastaut syndrome, which meets all of its diagnostic criteria, is quite rare. Many authors believe that the diagnosis of the syndrome is possible if the patient has tonic seizures and typical ictal and interictal patterns on the electroencephalogram (EEG). The diagnosis of the syndrome is considered probable if there are typical EEG patterns of wakefulness and sleep, but no tonic seizures are recorded. Diagnosis of the syndrome is complicated by its polyetiology (clinical and EEG manifestations can vary significantly), the evolution of seizure types and EEG characteristics as the patient matures, the presence of other epileptic syndromes similar to Lennox-Gastaut syndrome.

[Russian experience of lacosamide (vimpat) usage in treatment of uncontrolled focal epilepsy]. / Rossiiskii opyt primeneniya lakosamida (vimpat) pri lechenii patsientov s nekontroliruemoi fokal'noi epilepsiei.

Many patients with epilepsy receive treatment in polytherapy. Selection of antiepileptic drugs (AEDs) for the combination should be carried out in accordance with the principles of rational polytherapy, taking into account the mechanism of action, pharmacokinetic (PK) and pharmacodynamic (PD) properties of drugs. Along with levetiracetam, gabapentin, vigabatrin and pregabalin, lacosamide (LCM) shows superior PK profile in rating of all AED and can be combined with any of them. The goal of this study was to evaluate efficacy and tolerability of LCM in patients with uncontrolled partial onset seizures (POS) in routine clinical practice. METHODS: 181 patient's charts from 14 sites in Russia have been analyzed in retrospective manner. Patients 16 years old and older with POS with or without secondary generalization were included. Documented observation period of up to 12 months after initiation or until discontinuation of LCM therapy. Primary effectiveness variables was retention at Observational Point 3 (approximately 12 months). Other variables were: percentage change from historical baseline in seizure frequency, 50% and 75% treatment response and seizure-free status at the Observational Points 1, 2 and 3 (approximately 3, 6 and 12 months) and incidence and reason of treatment discontinuation. RESULTS: retention rate was high with 89.5% after 12-month observation. The development of seizure frequency showed a continuous decrease in terms of 50%, 75% treatment respond rates and seizure free status. A total of 5 adverse drug reactions leading to discontinuation of LCM therapy were recorded in 5 of 181 patients (2.8%) during the observation period. The high retention rate observed in this retrospective chart review is assumed to indicate a good tolerability and effectiveness of an adjunctive LCM treatment in patients with uncontrolled partial epilepsy in Russia.

[Diagnosis of tuberous sclerosis complex].

Tuberous sclerosis complex is a autosomal dominant instantly progressing disease, causing the development of benign tumors in all organs and tissues of human body. According to International Consensus Conference (2012), definite or possible TSC diagnosis can be made. For the definite diagnosis of TSC, two major criteria or one major criterion and ≥2 minor criteria have to be present. For a possible diagnosis, 1 major criterion or ≥2 minor criteria should be found. A pathogenic mutation in the TSC1 or TSC2 gene is by itself sufficient for a definite diagnosis. There are following major diagnostic criteria: angiofibromas (≥3) or forehead plaque; hypomelanotic macules (≥3); ungual fibromas (≥2); chagrin patch; multiple retinal hamartomas; cortical dysplasias (≥3, include tubers and cerebral white matter radial migration lines; subependymal nodules; subependymal giant cell astrocytoma; cardiac rhabdomyoma; lymphagioleiomatosis and renal angiomyolipomas (≥2). The minor criteria are the following ones: dental enamel pits (≥3); intraoral fibromas (≥2); non-renal hamartomas; retinal achromatic patch; confetti skin lesions; multiple renal cysts. Diagnosis of TSC is not difficult if a physician is familiar with clinical presentation of the disease.