| Abstrakt: |
The article is devoted to the issues of diagnosis and therapy of one of the most severe degenerative diseases in children - neuronal ceroid lipofuscinosis. This is a group of inherited neurodegenerative diseases related to lysosomal storage diseases characterized by regression of psychomotor development, resistant epileptic seizures, vision failure up to amaurosis. The morphological basis of neuronal ceroid lipofuscinosis types is the accumulation of autofluorescence material in tissues (particularly in the brain), similar in structure to ceroids and lipofuscin, which are related to the "aging" and "wear-and-tear" pigments. To date, we know 14 variants of diseases associated with mutations in 13 genes (PPT1, TPP1, CLN3, CLN5, CLN6, MFSD8, CLN8, KPUR, DNAJC5, CTSF, ATP13A2, CTD7). The most common and deeply studied types of neuronal ceroid lipofuscinosis are types 1,2,3. According to scientific data, neuronal ceroid lipofuscinosis is the most common neurodegenerative disease associated with epilepsy and an early fatal outcome. The article demonstrates a unique family case with this disease, reports a discussion of issues related to preclinical diagnosis through genetic verification and suggests a necessity for etiopathogenetic therapy. Here we present two children, from one family, a brother and sister. At the time of diagnosis, the sister already had a complete clinical picture of the disease and was genetically verified as having neuronal ceroid lipofuscinosis type 2. This fact enabled to identify the same disease in her younger brother at preclinical level and to begin his pathogenetic therapy in time. Currently, the treatment of these patients is conducted with the expensive preparation of Cerliponase - alpha (brineura), which is a purified human enzyme obtained through recombinant DNA technology. Brineura is a recombinant human tripeptidyl peptidase-1, the main function of which is the cleavage of the N-terminal tripeptides of a wide range of protein substrates. With the example of this family, the dynamics of clinical manifestations in a child with neuronal ceroid lipofuscinosis has been demonstrated in detail, and the algorithm of the medical action aimed at leveling off the serious neurological deficit has been shown. [ABSTRACT FROM AUTHOR] |
