Infantile osteopetrosis

• Pancytopenia can arise in this autosomal recessive disorder where the marrow cavity is obliterated with cortical bone due to a functional deficiency of osteoclasts.

• It is a primary marrow failure in the sense that there is no marrow, but is a failure of the microenvironment rather than haemopoietic stem cells.


Poor due to cranial compression, and children usually die in early childhood unless successful allogeneic BMT can replace normal osteoclast function.

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