Возможности лучевых методов в ранней пренатальной диагностике диастематомиелии (клинический случай)

The presented clinical case demonstrates capabilities of ultrasonography and MR imaging in diagnostics of combined developmental defect of spine  (disorganization, wedge-shaped vertebra, scoliosis) and spinal cord (diastematomyelia) in fetus of 21th week of development confirmed by pathomorphological study.Представленный клинический случай демонстрирует возможности УЗИ и МРТ в диагностике сочетанного порока развития позвоночника (дезорганизация, клиновидные позвонки, сколиоз) и спинного мозга (диастематомиелия) у плода на 21-й нед развития, подтвержденные при патоморфологическом исследовании

Rare mutation of the CCNO gene in patients with primary ciliary dyskinesia

Primary ciliary dyskinesia is a rare genetically determined pathology leading to the development of chronic inflammatory lesions of the respiratory system in children, impaired fertile function in older patients. The disease is characterized by an autosomal recessive mode of inheritance with marked genetic heterogeneity. The article describes clinical observation of a patient – carrier of a rare mutation and describes the features of this case.Conflict of interest: The authors of this article confirmed the lack of conflict of interest and financial support, which should be reported

Alveolar hemorrhagic syndrome in children

The article considersthe etiological factors, clinical manifestations and diagnostic signs of the alveolar hemorrhagic syndrome, which is rare in the pediatric clinical practice, using the example of the group of the patients with orphan lung pathological condition observed in the Pulmonology Clinic of the Institute. The prevailing number of the patients consists of the children with the rare disease; that is the idiopathic pulmonary hemosiderosis. That is why the clinical manifestations of the alveolar hemorrhagic syndrome in the presence of this pathological condition are discussed, the algorithm of the diagnostic measures and the long-term observation results (including the disease outcomes) for the children received the different variants of the immunosuppressive therapy are presented