Leukocyte Glucocerebrosidase Deficiency Diagnostic in Adult Gaucher's Disease with Negative Bone Marrow Biopsy. Some Properties of the Enzyme in Leukocytes and Spleen

1974 ◽  
Vol 4 (2) ◽  
pp. 101-107 ◽  
Author(s):  
Ch. Klibansky ◽  
J. Hoffmann ◽  
J. Pinkhas ◽  
D. Algom ◽  
M. Dintzman ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Biopsy ◽  
Gaucher's Disease ◽  
Gaucher’S Disease

scholarly journals Magnetic resonance imaging and BMB score in the evaluation of bone involvement in Gaucher’s disease patients

2015 ◽  
Vol 48 (4) ◽  
pp. 216-219 ◽  
Author(s):  
Ricardo Andrade Fernandes de Mello ◽  
Melissa Bozzi Nonato Mello ◽  
Laís Bastos Pessanha
Keyword(s):  
Magnetic Resonance Imaging ◽  
Bone Marrow ◽  
Magnetic Resonance ◽  
Bone Involvement ◽  
Type I ◽  
Resonance Imaging ◽  
Gaucher's Disease ◽  
Gaucher’S Disease ◽  
Disease Extent ◽  
Cross Sectional

Abstract Objective: To evaluate by magnetic resonance imaging changes in bone marrow of patients undergoing treatment for type I Gaucher’s disease. Materials and Methods: Descriptive, cross-sectional study of Gaucher’s disease patients submitted to 3 T magnetic resonance imaging of femurs and lumbar spine. The images were blindly reviewed and the findings were classified according to the semiquantitative bone marrow burden (BMB) scoring system. Results: All of the seven evaluated patients (three men and four women) presented signs of bone marrow infiltration. Osteonecrosis of the femoral head was found in three patients, Erlenmeyer flask deformity in five, and no patient had vertebral body collapse. The mean BMB score was 11, ranging from 9 to 14. Conclusion: Magnetic resonance imaging is currently the method of choice for assessing bone involvement in Gaucher’s disease in adults due to its high sensitivity to detect both focal and diffuse bone marrow changes, and the BMB score is a simplified method for semiquantitative analysis, without depending on advanced sequences or sophisticated hardware, allowing for the classification of the disease extent and assisting in the treatment monitoring.

Bone, Bone Marrow, and MIBI Scintigraphic Findings in Gaucher’s Disease “Bone Crisis”

2001 ◽  
Vol 26 (9) ◽  
pp. 765-769 ◽  
Author(s):  
DIDIER BLOCKLET ◽  
MARC ABRAMOWICZ ◽  
ANDRÉ SCHOUTENS
Keyword(s):  
Bone Marrow ◽  
Gaucher's Disease ◽  
Gaucher’S Disease

scholarly journals Gaucher’s Cells in Thalassemia

Blood ◽  
1971 ◽  
Vol 38 (4) ◽  
pp. 457-462 ◽  
Author(s):  
EDWARD C. ZAINO ◽  
MARIO B. ROSSI ◽  
TUAN DUC PHAM ◽  
HENRY A. AZAR
Keyword(s):  
Electron Microscopy ◽  
Bone Marrow ◽  
Chronic Myelogenous Leukemia ◽  
Light And Electron Microscopy ◽  
Thalassemia Major ◽  
Myelogenous Leukemia ◽  
Gaucher's Disease ◽  
Gaucher’S Disease

Abstract Gaucher or Gaucher-like cells are described in the spleen and bone marrow of patient with thalassemia major, by light and electron microscopy. The ultrastructure shows intracytoplasmic tubules and phagocytosis of mature and immature erythrocytes. The spleen has an increase in monohexosyl ceramide. These findings support the concept that the intracytoplasmic tubular material of the Gaucher’s cells is of extracellular origin. Erythrophagocytosis common in Gaucher’s disease, chronic myelogenous leukemia, and thalassemia suggest that impaired catabolism of erythrocytes may give rise to the increased glucocerebroside.

scholarly journals Gaucher’s Disease - A Rare Cause of Massive Splenomegaly

2019 ◽  
Vol 20 (2) ◽  
pp. 98-101
Author(s):  
Farzana Rahman ◽  
SK Jakaria Been Sayeed ◽  
Sabrina Rahman ◽  
AKM Humayon Kabir ◽  
Md Mujibur Rahman
Keyword(s):  
Bone Marrow ◽  
Genetic Diseases ◽  
Reticuloendothelial System ◽  
Lysosomal Storage ◽  
Gaucher's Disease ◽  
Gaucher’S Disease ◽  
Massive Splenomegaly ◽  
Onset Type ◽  
Enzyme Replacement ◽  
Rare Genetic Diseases

Gaucher’s disease (GD) is a lysosomal storage disorder due to glucocerebrosidase deficiency; it’s one of the rare genetic diseases for which therapy is now available. Lysosomal storage of the substrate in cells of the reticuloendothelial system leads to multisystem manifestations, including involvement of the liver, spleen, bone marrow, lungs, and nervous system. Three different subtypes have been identified: Type 1, non-neuropathic form, adult onset; type 2, acute neuropathic form, infantile onset; type 3, neuropathic form, juvenile onset. The diagnosis is confirmed by presence of less than 15% activity of the enzyme Glucocerebrosidase in peripheral leucocyte with presence of Gaucher cells in macrophase monocyte system, is the pathological hallmark. Enzyme replacement therapy (ERT) is now available. We are reporting a case here which presented with cytopenia and massive splenomegaly. This case has been presented to focus on the importance of clinical examinations, differentiating from other diseases of similar manifestations, enzyme activity and bone marrow study for early diagnosis. J MEDICINE JUL 2019; 20 (2) : 98-101

scholarly journals Gaucher Cells in Chronic Myelocytic Leukemia: An Acquired Abnormality

Blood ◽  
1969 ◽  
Vol 33 (2) ◽  
pp. 379-390 ◽  
Author(s):  
HERMAN E. KATTLOVE ◽  
JEANNINE C. WILLIAMS ◽  
EVELYN GAYNOR ◽  
MORTON SPIVACK ◽  
ROY M. BRADLEY ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Chronic Myelocytic Leukemia ◽  
Electron Microscopic ◽  
Gaucher's Disease ◽  
Gaucher’S Disease ◽  
Myelocytic Leukemia ◽  
Microscopic Studies

Abstract A patient with CML is presented in whom Gaucher’s cells were seen in the bone marrow and other tissues. Biochemical and electron microscopic studies established the similarity of these cells to those found in Gaucher’s disease. Evidence is presented which indicates that the granulocyte is normally the major source of sphingolipid and that the Gaucher’s cells seen in CML arise from excessive granulocyte turnover.

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