Niemann-Pick type C disease in a child

Abstract

The authors consider a clinical case of Niemann-Pick disease type C, an orphan hereditary autosomal recessive neurodegenerative disease belonging to the group of lysosomal storage disease, in an 11-year female patient with the late infantile form of the disease. The combination of psychomotor retardation, polymorphic neurological symptoms and physical changes in the form of isolated splenomegaly suggested the diagnosis of Niemann-Pick type C disease. DNA testing was carried out using direct automated sequencing. The patient was treated with miglustat.