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1. GAUCHER DISEASE
Prepared by – Jadhav Kajal
Prepared by – Jadhav Kajal
Under the guidance of – Dr. Aigerium

2.  Lysosomal storage disease caused by an autosomal
recessive mutation in the β glucocerebrosidase gene
(also called glucosylceramidase and β glucosidase)
 Defective enzyme leads to accumulation of
glucocerebroside substrate in cells of the mononuclear
phagocyte system, including histiocytes in the spleen,
lymph nodes, bone marrow, GI and GU tracts; Kupffer
cells in liver; osteoclasts in bone; microglia in CNS; and
alveolar macrophages in lungs

3. Types ..

4.  All types
 Hepatosplenomegaly
 Bone: bone crises , osteoporosis, avascular necrosis of the femur
 Blood abnormalities: anemia, thrombocytopenia, pancytopenia
 Pulmonary manifestations
 Growth delays
 Type II
 Congenital ichthyosis (collodion baby), acute neurodegeneration
 Death within the first years of life [3]
 Type III
 Gradual onset of symptoms
 Neurodegeneration

5. Congenital
ichthyosis

11. Diagnostics
with
histological
findings…
 Reduced glucocerebrosidase activity in leukocytes or fibroblasts
 Accumulation of glucocerebroside in leukocytes or fibroblasts
 Gaucher cell: lipid-rich macrophages with an enlarged cytoplasm with
inclusions that resemble crumpled tissue paper on microscopy
 Microscopic (histologic) description
 Enlarged Kupffer cells and portal macrophages with “crinkled paper”
cytoplasm

12.  Enzyme replacement therapy with imiglucerase
(Cerezyme), a recombinant version of β
glucocerebrosidase, for patients with types I or
III
 Surgery – Partial or total splenectomy
 Bone marrow transplant
 Gene replacement

14. Differential
diagnosis
 Niemann-Pick disease:
 Foamy and vacuolated cytoplasm due to sphinomyelin
accumulation
 Pompe disease:
 Primarily affects skeletal and cardiac muscle

30. We prescribed Enzyme replacement
therapy
Dosage – 25 units/kg
Every 15 days