À propos d'un cas de maladie de Niemann-Pick type C : revue de la littérature

Cholesterol is an essential and structural constituent of cell walls. Its intracellular as well as extracellular regulation is important for organisms' function. Membranous lipids are unequally distributed in cell walls: membranous rafts are microdomains made of cholesterol and sphingolipids and are implicated in the lipid transportation, cellular polarization, and signalization. Niemann-Pick diseases are a group of lysosomal storage diseases subdivided in A, B and C types. The A and B types are caused by a sphingomyelinase acid deficiency. The A type causes an acute neuropathic form of the disease whereas the B type is responsible for a chronic form without neurological involvement. Finally, the Niemann-Pick C causes a similar clinical form as the A and B types and is due to lysosomal accumulation of cholesterol owing to a transport defect.