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
No comments:
Post a Comment