Atypical cytomorphology of Gaucher cells is frequently seen in bone marrow smears from untreated patients with Gaucher disease type 1.

Introduction: Gaucher cells (GCs), the lipid-laden storage macrophages, are the pathologic hallmark of Gaucher disease (GD). They are typically 20-100 μm in diameter with eccentrically placed nuclei and cytoplasm with characteristic crinkles and striations. A few previous observations have indicated that sometimes GD patients may display morphology of GCs which is different from this classical description.

Clinical utility of different bone marrow examination methods in the diagnosis of adults with sporadic Gaucher disease type 1.

Introduction: In the absence of a known affected family member, frequent symptoms of Gaucher disease (GD), a rare lysosomal storage disorder, such as thrombocytopenia or splenomegaly, often lead to hematological diagnostic workup.

Objectives: The aim of the study was to compare the clinical utility of aspiration biopsy of the bone marrow (ASP) with trephine biopsy (TB) for the diagnosis of GD type 1 (GD1).

Patients And Methods: Six non-Jewish patients with sporadic GD1 were initially examined with ASP and TB to establish the cause of cytopenia and splenomegaly.

Recurrent pulmonary aspergillosis and mycobacterial infection in an unsplenectomized patient with type 1 Gaucher disease.

Background: The clinical presentation of Gaucher disease (GD), an inherited lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme glucocerebrosidase, is highly variable, and three clinical types are distinguished based upon the presence of neurologic symptoms. Thrombocytopenia, anemia, hepatosplenomegaly, and bone manifestations are the most typical signs of GD type 1 (GD1).

Case Presentation: We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.