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.

Метилмалоновая ацидемия (ацидурия) -генетически гетерогенное наследственное заболевание группы органи-ческих ацидемий (ацидурий). ацидемии, валин, вторичная гипераммониемия, вторичный дефицит карнитина, гиперглицинемия, глицин, изо-лейцин, левокарнитин, метаболический кетоацидоз, метилмалонил-КоА мутаза, метионин, пропионилкарнитин, свободный карнитин, треонин, цианокобаламин. (Для цитирования: Баранов А.А., Намазова-Баранова Л.С., Боровик Т.Э., Бушуева Т.В., Вишнёва Е.А., Глоба О.В., Журкова Н.В., Захарова Е.Ю., Звонкова Н.Г., Кузенкова Л.М., Куцев С.И., Михайлова С.В., Николаева Е.А., Новиков П.В., Пушков А.А., Савостьянов К.В., Селимзянова Л.Р. Метилмалоновая ацидурия у детей: клинические рекомендации. Педиатрическая фармакология. 2017; 14 (4)

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.