A case of Niemann – Pick disease type C

Abstract

The paper describes a clinical case of a 27-year-old female patient with Niemann – Pick disease type C (NPC), a rare inherited orphan disease, belonging to a group of lipid storage diseases. It gives an update on the etiology and pathogenesis of this type of glycosphingolipidosis and on established gene mutations. The clinical polymorphism of NPC and the trends in the development of somatic, mental, and neurological disorders are highlighted in relation to the onset age of the disease. The problem of differential diagnosis is discussed. The diagnostic NPC probability index in scores and the latest methods for laboratory diagnostic verification, including molecular genetic testing, are presented.Information is given on specific substrate reduction therapy with miglustat for NPC.

Keywords

• lysosomal storage diseases
• niemann – pick disease type c
• splenomegaly
• vertical gaze palsy
• probability index
• molecular genetic testing
• miglustat