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.

Outlook

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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