Gaucher disease (GD), like other lysosomal storage disorders, is a multisystem disease. Beta glucosidase deficiency leads to the progressive intralysosomal accumulation of glucosylceramide and other degraded substrates, causing cell damage and dysfunction. The exact cause of GD remains unknown despite the identification of the exact pathologic and genetic causes of the disease. Clinical heterogenicity results in variability of signs and symptoms among patients with the same mutation. On the contrary, patients with the same clinical manifestations may have very different genetic mutations. Therefore, a broad spectrum of presentation severity, from perinatal lethal to asymptomatic disease, is expected [1].