Newborn presentation of Niemann –Pick disease type C – Difficulties and limitations of diagnostic methods

Niemann –Pick disease type C (NPC) is a neurodegenerative, lysosomal lipid storage disorder characterized by the accumulation of unesterified cholesterol and secondary lipids trafficking in lysosomes and late endosomes.1,2 The broad clinical heterogeneity and a variable age of onset make the diagnosis cha llenging, which is why specific biochemical, histological, and molecular studies are required in the diagnostic process.1,2 Each of the current approaches has its own limitations, contributing to a delay in the proper diagnosis.

Source: Pediatrics and Neonatology - October 31, 2017 Category: Perinatology & Neonatology Authors: Patryk Lipi ński, Irena Jankowska, Agnieszka Ługowska, Małgorzata Musielak, Maciej Pronicki, Anna Tylki-Szymańska Tags: Short Communication Source Type: research