Background. This study deals with a rare (orphan) monogenic connective tissue disorder - Ehlers-Danlos syndrome kyphoscoliotic type 2 (EDSKS2). Kyphoscoliotic type 2 Ehlers-Danlos syndrome is an autosomal recessive disorder caused by mutations in the FKBP14 gene (7p14.3), which encodes the FKBP22 protein. According to the 2017 classification, this type is in group seven - collagen spatial structure and cross-linking defects. We present results of clinical examination and molecular genetic analysis for five patients with age varying from two to fifteen years. Methods. Five patients were examined using clinical and laboratory methods. DNA samples used for the analysis were extracted from whole blood samples using a Wizard® Genomic DNA Purification Kit (Promega, USA) according to the manufacturer's protocol. Results. The major clinical findings were kyphoscoliosis, early motor development delay, muscular weakness, hypotonia and hearing loss. Molecular genetic analysis detected a homozygous c.362dupC duplication in exon 3 of the FKBP14 gene in all five patients. This mutation is common in various countries. Differential diagnostics were carried out to exclude other Ehlers-Danlos syndrome types and myopathies. Conclusions. Literature analysis and examination of five EDSKS2 patients demonstrated the involvement of major organs and systems, such as joints, spine, muscles, cardiovascular system, respiratory system, hearing, and vision, into the pathological process. Kidney mobility increases and nephroptosis seems to be secondary caused by muscular weakness. During molecular genetic analysis, to verify EDSKS2 it is recommended to initially search for the c.362dupC duplication, which appears to be common in European countries, including Russia.
Introduction. Epileptic spasms (ES) are a special type of epileptic seizures, accompanied by hypsarrhythmia on the interictal electroencephalogram (EEG) and regression of psychomotor development. ES are the most common cause of epileptic encephalopathy in infancy. Materials and methods. We examined two hundred three children with the age of onset of epileptic spasms up to 2 years. The patient were selected in retrospective group including 180 children (boys - 95/180 (52.7%), girls - 85/180 (47.3%)) (χ2=0.9, p=0.3428) and prospective group consisted of 23 children (boys - 13/23 (56.5%), girls - 10/23 (43.5%) (χ2 = 0.3478, p = 0.5553. Results. The present study demonstrates the need for sleep electroencephalogram in children with developmental delay or regression. Our work confirms in general, antiepileptic drugs, with the exception of vigabatrin in children with tuberous sclerosis-associated epilepsy, to show low efficacy in the group of children without tuberous sclerosis as seizures were stopped in 14.3% of cases. The use of methylprednisolone (the regimen includes pulse therapy followed by prolonged oral administration of the drug) makes it possible to achieve the cessation of seizures and the disappearance of hypsarrhythmia in 69.5% of patients. Methylprednisolone is a fairly safe and well tolerated hormone. The study did not record any life-threatening side effects among the prospective and retrospective groups.The treatment regimen using methylprednisolone shows equal efficacy with the regimen using tetracosactide. Conclusion. The results of the study demonstrate the need for early corticosteroid therapy in ES children.
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