Gaucher disease (GD) is the most common lysosomal storage disorder in humans. It is an autosomal recessive, multisystem disease arising from a deficiency of glucocerebrosidase or beta-glucosidase activity, resulting in the accumulation of a glycolipid (glucocerebroside) within the lysosomes of macrophages, particularity in the bone marrow, spleen and liver. Type 1 is the most common form, present in childhood and young adults. Type 2 and 3 are relatively rare, usually occur in infants and young children.

Gaucheromas: rare pseudotumors comprising a mass of Gaucher cells

Additional contributors:

• Z.E, Boudiaf, MD, CIM aurès, Batna, Algeria

• S. Rouabhia, Assoc Prof, head and chairman, department of internal medecine, CHU Batna, Algeria.