SOME RARE HEREDITARY ATAXIA IN CHILDREN ACCORDING TO THE DATA OF THE UNIVERSITY CLINIC ASFENDIYAROV KAZNMU
Keywords:
ataxias, hereditary children, genes, neuroimaging.Abstract
Relevance. In recent years, according to the experience of the university clinic "Aksai" of KazNMU, a number of children with progressive ataxia have been hospitalized. Genetically determined hereditary ataxia is a clinically and genetically heterogeneous group of diseases transmitted most often by autosomal dominant or autosomal recessive type
The purpose of this study was to describe and analyze various forms of hereditary ataxia in children, in order to develop a standardized approach to their timely diagnosis
Material and methods. 4 children with hereditary ataxia were under observation, including two siblings (sister and brother). All underwent clinical observation, neuroimaging (MRI) of the brain, ENMG, as well as general clinical blood tests. In addition, all children underwent genetic testing of DNA research by clinical sequencing with confirmation of the Sanger result. All children had a family history for the presence of similar symptoms.
Results. 4 cases of ataxia, 3 autosomal recessive forms have been described, in which Louis-Bar syndrome ataxia-telangiectasia caused by a homozygous mutation in the ATM gene has been diagnosed in two cases, and the third case is a compound heterozygote with a mutation in the SETX gene (sentaxin), with manifestations with ataxia, polyneuropathy, moderate severity. An autosomal dominant form was detected in one boy with a heterozygous dominant mutation of the ELOV4 gene.
Discussion and conclusion. Thus, hereditary ataxias occur more often as autosomal recessive forms, as a hereditary disease transmitted from parents, Ataxia-telangiectasia Louis-Bar syndrome is more often manifested, but another autosomal recessive form (compound-heterozygote) is also found. But a rare autosomal dominant form of spinocerebellar ataxia of type 34 has also been described, an interesting variant that can manifest itself in a recessive malignant form.
Based on our data, with the exception of typical acute respiratory infections of Louis-Bar syndrome, ataxia-telangiectasia, a full-screening of the patient's genome is necessary to identify rare forms of ataxia, since many diseases are not included in narrower genetic research panels. In cases of the classic Louis-Bar syndrome, it is necessary to start with the ATM gene, and in case of a negative result, conduct a broader genetic.
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