Ювенильная форма болезни Гентингтона: клинический случай из практики педиатра

Abstract

Background. Huntington's disease (Hd) is a hereditary neurodegenerative disease with an autosomal dominant type of inheritance and manifested by motor, behavioral and mental disorders. The essence of the mutation is an increase in the trinucleotide repeats of "cytosine – adenine – guanine" (cAG) in the first exon of the HTT gene encoding the huntingtin protein, more than 35. Aim. The purpose of the presentation of this clinical case is to consider the features of the clinical picture and the course of the disease of the juvenile form of Hd. In addition to the rarity of the disease, the dependence of the onset and course of the disease on the number of cAG repeats in the HTT gene, rapid progression and lack of etiopathogenetic treatment, which inevitably leads patients to disability, and later to death, is of interest. Results. The article presents a clinical case of a juvenile form of the disease in an 11-year-old boy with the first symptoms of Hd at the age of 4. Conclusion. The presented clinical case provides an opportunity to verify the difficulty of the juvenile form of Hd and its diagnosis, for which sometimes the only method is genetic analysis.