Maladies de Gaucher, de Niemann-Pick par déficit en sphingomyélinase acide et de Niemann-Pick type C

Abstract

AbstractGaucher disease is an autosomal recessive lysosomal storage disorder caused by glucocerebrosidase deficiency. Its clinical expression is extremely variable, ranging from lethal forms in utero to asymptomatic forms. There are three main clinical phenotypes. Gaucher disease type 1, the most common form (95%), is the visceral form, non-neuronopathic. Its clinical expression is very heterogeneous with very severe forms in childhood and quasi-asymptomatic forms. Gaucher disease type 2 (< 1% of cases), neurological form, leads to death before the age of 2 years. Gaucher disease type 3, subacute neurological form (5% of cases) combines progressive encephalopathy of varying severity and clinical manifestations of type 1.Niemann Pick disease type A, B and type A/B, also known as Acid sphingomyelinase deficiency (ASMD), is a rare lysosomal storage disorder due to acid sphingomyelinase deficiency. Niemann-Pick disease type A, also known as infantile neurovisceral ASMD, is the most severe form with death by 3 years of age. At the least severe end of the spectrum, Niemann Pick disease type B, chronic visceral ASMD, has a variable age of onset ranging from infancy to adulthood and is slowly progressive visceral without neurodegeneration.Niemann-Pick type C disease is a neurovisceral lysosomal storage disease caused by mutations in either the NPC1 or the NPC2 gene. It is a cellular lipid trafficking disorder characterized by the accumulation of unesterified cholesterol and glycosphingolipides. The broad clinical spectrum ranges from a neonatal rapidly fatal disorder to an adult-onset chronic neurodegenerative disease.