2 СПб ГБУЗ «Детская городская больница № 1», Санкт-Петербург Актуальность. Выявление внутричерепных изменений у детей при легкой черепно-мозговой травме в остром периоде путем сочетания клинико-неврологической и сонографической оценки тяжести состояния. Цель исследования -изучить возможности комплексной клинико-сонографической оценки тяжести неврологического состояния у детей при легкой черепно-мозговой травме в остром периоде. Материалы и методы. Клинико-сонографическая оценка тяжести неврологического состояния проведена 256 пострадавшим с клиническими критериями легкой черепно-мозговой травмы. В качестве основного метода нейровизуализации применяли ультрасонографию. Результаты. Установлено, что диагностическая чувствительность клинико-сонографического осмотра в выявлении травматических структурных внутричерепных изменений у детей при легкой черепно-мозговой травме составила 90,0 % (95 % ДИ 0,71-0,98), диагностическая специфичность -97,0 % (95 % ДИ 0,96-0,98), диагностическая эффективность -94,9 % (95 % ДИ 91,8-97,1). Выводы. Комплексный клинико-сонографический подход может быть эффективно использован для оценки тяжести неврологического состояния у детей при легкой черепно-мозговой травме в остром периоде.Ключевые слова: дети, легкая черепно-мозговая травма, неврологическая оценка, транскраниальная ультрасонография. Background. The intracranial changes in children with mild traumatic brain injury in acute period are identified by a combination of clinical-neurological and ultrasonographic evaluations of the condition severity. Aim. The aim of the study was to assess the possibility of performing comprehensive clinical and ultrasonographic evaluations in for determining the severity of the neurological condition of children with mild traumatic brain injury in an acute phase. Materials and Methods. Clinical and ultrasonographic assessment of the severity of the neurological condition was performed on 256 patients with clinical criteria suggesting mild traumatic brain injury. Ultrasonography was used as the main neuroimaging. Results. We found that the diagnostic sensitivity of clinical and ultrasonographic examination for detecting traumatic structural intracranial changes in children with mild traumatic brain injury was 90% (95% confidence CLINICAL AND ULTRASONOGRAPHIC EVALUATION OF THE NEUROLOGICAL STATUS OF CHILDREN WITH MILD BRAIN INJURY IN ACUTE PHASE

Biotinidase deficiency is a hereditary metabolic disease from the group of organic acidurias with an autosomal recessive type of inheritance. The disease is caused by mutations in the BTD gene, which encodes an enzyme biotinidase. Deficiency of biotinidase leads to insufficiency of intracellular Biotin, which is the coenzyme of four carboxylases involved in gluconeogenesis, leucine metabolism and biosynthesis of fatty acids. At infringement of function of carboxylase accumulate substrates that are toxic to the human body. Deficiency of biotinidase is manifested primarily by neurocutaneous disorders. The Central nervous system is particularly vulnerable, since the activity of biotinidase in the human brain is very low and therefore, for the normal functioning of neurons, it is necessary to receive enough biotin through the blood-brain barrier. With its deficiency, neurological disorders for a certain period may be the only sign of the disease. Symptoms can be successfully cured or prevented by the introduction of pharmacological doses of biotin. The article presents two clinical observations of young children with biotinidase deficiency, the main manifestation of which in the first clinical case were neurological disorders, in the second – respiratory disorders. To confirm the diagnosis, an enzyme diagnosis was carried out, which revealed a low level of biotinidase. The rapid and pronounced efficacy of biotin therapy with cessation of attacks, the possibility of cancellation of anticonvulsants, regression of neurological, skin and respiratory disorders.

Objective. To increase the effectiveness of neurological evaluation in detecting traumatic intracranial injures in children under 18 years old with clinical criteria of mild traumatic brain injury. Materials and methods. Clinical and clinical-sonographic evaluations of 256 patients aged 0-18 years with clinical criteria of mild traumatic brain injury were performed. Depending of detected clinical and neurological risk factors and the results of the primary clinical and sonographic examination, children were divided into two groups: group I (high or medium risk of traumatic intracranial injury) – 174 (67.9%), group II (low/no risk of traumatic intracranial injury) – 82 (32.1%). Verification of important traumatic and non-traumatic intracranial changes revealed by primary sonographic exam was confirmed by using computerized tomography. Results and conclusion. Identification of traumatic intracranial injures by results of primary clinical examination is most effective when two or more higher or medium risk factors were detected. Application of primary clinical and sonographic examination increases diagnostic efficiency of neurological evaluation to 10.1% and the possibility of detecting traumatic intracranial injures to 57.1%. In 7.0% of cases emergency computed tomography were determined, dynamic observation was performed in 32.1% of cases. Significant non-traumatic brain diseases (cysts, hydrocephalus, congenital malformations) were diagnosed in 3.6% of cases by results primary clinical and sonographic examination.