Osteopetrosis (marble bone disease) is a rare condition characterized by marked radiodensity of bones throughout the skeleton and failure of remodeling of the metaphysis due to impaired lysosomal function of osteoclasts and their precursor cells, monocytes. The overall prevalence varies from 1:500,000 to 5.5:100,000. It is not a single disease but a syndrome with several variants defined on clinical criteria. These variants can be categorized as (a) infantile-malignant autosomal recessive, (b) intermediate autosomal recessive, and (c) autosomal dominant.
Infantile-Malignant Osteopetrosis
This form usually presents in infancy with failure to thrive, anemia with thrombocytopenia, severe, overwhelming infections, or fractures. The inheritance is usually autosomal recessive. Hyperostosis crowds the bone marrow cavity, leading to anemia, thrombocytopenia, and hepatosplenomegaly. The macrophage killing is defective, which may account for recurrent infections.
Other manifestations include...
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Al-Rasheed, S.A. (2012). Osteopetrosis. In: Elzouki, A.Y., Harfi, H.A., Nazer, H.M., Stapleton, F.B., Oh, W., Whitley, R.J. (eds) Textbook of Clinical Pediatrics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-02202-9_40
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