A clinical case of adult onset Niemann–Pick disease type C

Abstract

The paper presents a brief review of an update of the etiology and pathogenesis of Niemann–Pick disease type C (NPC), a rare neurovisceral lysosomal storage disease. It highlights the main clinical manifestations and classification of the disease. There is information about developed pathogenic miglustat substrate reduction therapy for NPC. The authors describe their clinical case of adult-onset NPC in a 32-year-old female patient. The clinical syndrome and the results of laboratory and instrumental studies that could establish an accurate diagnosis and determine indications for pathogenetic therapy are given in detail.

Keywords

• lysosomal storage disease
• niemann–pick disease type c
• vertical supranuclear gaze palsy
• splenomegaly
• ataxia
• dystonia
• dementia
• mental disorders
• oxysterols
• molecular genetic analysist