Concluded Case

Niemann-Pick disease

5 year male, neural symptoms. Bone Marrow Biopsy. Comment.

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Concluded answer
Bone Marrow:Niemann-Pick Disease
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Looks like Gauchers ds. Happens due to deficiency of glucocerebrosidase enzymes leads to deposition of glucocerebroside in macrophages....
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S/O : Histiocytic/Stirage disorder.P/O : Gaucher’s Disease.Advised correlation with enzyme levels of Glucocerebrocidase & radiology.
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storage disorder Possibly Gauchers disease. Adv Biochemical markers and histochemistry to confirm
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Histiocytic lesion. Gaucher s likely.
Bone Marrow:Niemann-Pick Disease
storage disorder
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