[Case of combination of Beckwith-Wiedemann syndrome with West syndrome].

Beckwith-Wiedemann syndrome (BWS) is etiologically connected with genetic/epigenetic growth dysregulation. The supposed localization of this disorder is a short arm of chromosome 11 (11p 15.5). Its prevalence is 1:13 per 700 newborns. West syndrome is an age-dependent epileptic syndrome related to a group of infantile epileptic encephalopathies and characterized by a triad of basic symptoms: series of infantile spasms, psychomotor retardation and severe paroxysmal EEG changes. The incidence of West syndrome is estimated at 1 case per 2,000-4,000 newborns. The article describes a rare clinical case: a combination of BWS with one of the types of infantile epileptic encephalopathies--West syndrome. A detailed analysis of the West syndrome progression in a female patient with BWS is given, the tactics of antiepileptic therapy is analyzed, and its complexity in terms of metabolic disorders caused by the presence of a genetic syndrome in a patient is shown. The results of a long catamnesis are described. The figures are the fragments of native electroencephalograms at the eruptive phase of West syndrome and against the background of a long-term remission. When describing the clinical case in detail, the authors actively discuss the obtained information and available literature data. The article also presents practical guidelines for the early detection of metabolic disorders in patients with infantile epileptic encephalopathies. In addition to anti-epileptic drugs, the authors propose to include a mandatory metabolic correction in the therapy complex for these patients.

[The use of topiramate in the treatment of focal epilepsy in children].

Topiramate was used in the treatment of 66 children, aged 2--16 years (mean age 7.0±4.6 years), including 19 patients with idiopathic form of focal epilepsy (IFE), 21 patients with cryptogenic forms (CFE) and 26 patients with symptomatic forms (SFE). The drug was administered in capsules in dose from 3 to 7 mg/kg/day. Thirty-three patients were on monotherapy, 26 patients received the drug in the combination with one antiepileptic (AED) drug and 7 patients received topiramate in the combination with 2 AEDs. The efficacy of topiramate in focal epilepsy was demonstrated in 65% of patients, including high efficacy in 15% and complete reduction of seizures in 12%. No effect was seen in 27% of patients. The results revealed the high efficacy of topiramate in all subgroups of patients. The significantly higher efficacy was noted in patients with IFE and CFE forms compared to those with SFE form. The tolerability was satisfactory in all subgroups. Side-effects observed in 5 patients were eliminated by increasing the duration of dose titration.

Glutamate receptor autoantibody concentrations in children with chronic post-traumatic headache.

We report here studies on the levels of autoantibodies (aAb) to AMPA glutamate receptors (GluR1 subunit) and NMDA glutamate receptors (NR2A subunit) in serum from 60 children aged 7-16 years with chronic posttraumatic headache (CPTHA) following mild craniocerebral trauma (CCT). The first group consisted of 48 children who had sustained cerebral concussion (CC), of which 34 had single-episode CC (subgroup 1a) and 14 had repeated CC (subgroup 1). The second group included 12 children with mild cerebral contusions (MCC). Serum glutamate receptor aAb levels were measured six months and one year after trauma. Increased aAb levels were expressed as percentages and were regarded as significant when increases were to 120% of the level seen in healthy children of the same age. The highest levels of aAb to NMDA receptors were seen in children with MCC (165 +/- 34%) and single CC (145 +/- 12.6%). Children with repeated CC had NMDA receptor aAb at normal levels (108 +/- 12.4%). Increases in NMDA receptor aAb were seen during the first year after trauma. Increases in AMPA receptor aAb were seen in children with repeated CC and MCC (150 +/- 16.8% and 167 +/- 31.3%). EEG studies showed that 18% of these children had nonspecific paroxysmal changes and 6% showed epileptiform activity. These results provide evidence that children with post-traumatic headache demonstrated hyperstimulation of glutamate receptors and overdevelopment of the autoimmune process. Increases in serum levels of aAb to NMDA glutamate receptors reflected hypoxic-ischemic brain lesions in children with CPTHA and dictate the need for these children to receive metabolic therapy.

[Autoantibodies to glutamate receptors in children with chronic posttraumatic headache].

Autoantibodies (aAB) to AMPA (Glu R1 subunit) and NMDA (NR 2A subunit) glutamate receptors were studied in blood serum of 60 children, aged 7-16 years, with chronic posttraumatic headache after mild skull injury. All the children were divided into 2 groups: group 1 included 48 children with concussion of the brain, group 2--12 children with brain contusion. Group 1 was divided into 2 subgroups: subgroup 1a comprised 34 children with single concussion and subgroup 1b--14 children with repeated concussion. The aAB level was determined 6 months and 1 year after skull injury. The aAB concentration was expressed in percents to the control level being considered significant if the increase was higher than 120%. The increased NMDA aAB level was observed during the first year after skull injury. In the la subgroup, the NR2 aAB level in blood serum was 145 +/- 12,6%, in the 1b one--108 +/- 12,4%, in group 2--165 +/- 34%. The content of aAB to AMPA receptors was elevated only in children of lb subgroup and group 2 (150 +/- 16,8% and 167 +/- 31,3%, respectively). The EEG examination of this group revealed the nonspecific paroxysmal discharges in 18% of cases and epileptiform activity in 6% of children. The results obtained suggest that children with posttraumatic headache have elevated levels of aAB to glutamate receptors, hyperstimulation of which reflects hypoxic processes in the brain, and are in need of metabolic therapy.

[Paroxysmal activity test in pediatric neurology]. / "Test paroksizmal'noi aktivnosti" v detskoi nevrologii.

Taking into consideration the significance of glutamate receptors in epileptic focus forming, the authors studied the level of autoantibodies (Glu aAB) to fragment of glutamate receptors, quisqualate membrane protein with molecular mass 56 kDa in blood serum. The study employed the diagnostic kit "Paroxysmal activity test" (PAT) elaborated in Institute of Human Brain, RAS (St-Petersburg), 140 children from 2 months to 16 years with epilepsy, epileptic syndrome, paroxysmal states of nonepileptic genesis and with other neurologic diseases as well as 32 practically healthy children were examined. Significant increase of Glu aAB level was found in children with epilepsy and epileptic syndrome as compared with healthy children. Glu aAB level was decreased in patients which were treated by adequate anticonvulsant therapy that resulted in relief of convulsive fits for 6 months and normalization of EEG. In patients with paroxysmal disorders Glu aAB content was lower than in patients with epilepsy and epileptic syndrome, but higher than in healthy children; 5 children from this group with high level of Glu aAB had seizures in aged. It was proposed to introduce the described method into clinic for the study of the processes of brain's epileptization in process of development of diseases of nervous system, accompanied by convulsions or paroxysmal states.