Friday, April 27, 2012

Gaucher's disease

Gauchers has a 3G phone in his wrinkled paper bag!

Lyosomal storage disease
Deficiency of acid beta Glucosidase (Glucocerebrosidase)
Ashkenazi Jews
Aut recessive
wrinkled paper appearance of macrophages
Erlenmeyer flask deformity of distal femur (aseptic necrosis) - seen in other conditions e.g SS Dx
Grey-brown pigmentation of forehead, hands and pretibial area

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