Gaucher Disease 



Pathophsiology

 • Lysosomal storage disorder

 • Deficiency of ß-glucocerebrosidase

• Accumulation of glucosylceramide in macrophages

Diagnosis

 • Decr ß-glucocerebrosidase activity

 • Mutation in GBA1 gene

Clinical Manifestations

 • Neurological involvement (type 2 and 3)

 • Splenomegaly > 90%

 • Hepatomegaly 60-80%

 • Osteonecrosis, bone infarcts, osteoporosis 80%



By Dr. Yann Nguyen @YannNgyn



#Gauchers #Disease #Diagnosis #Signs #Symptoms