[Difficulties in the diagnosis of Gaucher's disease]

The first diagnostic phase of Gaucher's disease is based on correct evaluation of clinical history as well as on finding of typical striated Gaucher's cells in bone marrow. Nevertheless, there can occur surprising diagnostic faults in spite of believed easy identification of this classic storage disease. They can be caused by a primary atypical or secondary modified clinical phenotype. Another source of diagnostic error or hesitation can be in an atypical appearance of Gaucher's cells because of poorly distinct cytoplasmic striation (solid voluminous cytoplasm) or classical vacuolized pattern.