Friday, 14 August 2015

Gauchers Disease

Gaucher's disease-
M/C lysosomal storage disease* with *beta-glucosidase deficiency.

Types-• Non-neuropathic: Type 1 (M/C)• Neuropathic: Type 2,3 (Incompatible with life)

C/F:• Hematology-
◦ Anemia◦ Thrombocytopenia
• Organomegaly• Bony lesion

Histopathology-◦ Gaucher'scell-▪ Blendnucleus▪ Wrinkledpaperlikecytoplasm ▪ PAS+ve▪ Oil-Red-Onegative

Enzyme replacement therapy available

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