НАСЛЕДСТВЕННЫЕ ФОРМЫ ПРИОННОЙ БОЛЕЗНИ В ПЕДИАТРИЧЕСКОЙ ПРАКТИКЕ: ОБЗОР ЛИТЕРАТУРЫ И ОПИСАНИЕ СОБСТВЕННЫХ КЛИНИЧЕСКИХ НАБЛЮДЕНИЙ

Abstract

As for now, there is very limited and surely insufficient scientific data published Worldwide on the manifestation of hereditary forms of prion disease in childhood. Authors provide brief overview of PRNP-associated prion diseases and the description of their own two clinical cases of this disease with manifestation in childhood. Both of the observed patients had many similar clinical manifestations at the onset of the disease at the age of 15 to 16 y/o, such as: predominance of neuropsychiatric symptoms at the onset, rapid progression of the disease, early development of dementia and the lethal outcome within 1 to 1.5 years. Genotype that had been identified by the results of a molecular genetic study was also similar in both patients: the repeatedly described mutation D178N in combination with the M129M polymorphism in the PRNP gene. Prion disease in all cases initially occurred under the guise of mental disorders, making it difficult to suspect a diagnosis at an early stage. Considering the extreme rarity of the manifestation of hereditary forms of prion disease in childhood, the Article is drawing attention to the current problematics connected with low alertness and delayed diagnosis of this pathology in pediatric practice.