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August 1967

Calcium Mobilization in Osteopetrosis

Author Affiliations

From the departments of pediatrics and biochemistry, University of Pennsylvania School of Medicine, and Hospital of the University of Pennsylvania, Philadelphia.

Am J Dis Child. 1967;114(2):161-168. doi:10.1001/archpedi.1967.02090230091010

THE MALIGNANT form of osteopetrosis is often a relentless and fatal disease of childhood. In contrast to the benign, dominant form, the malignant variant is inherited as a mendelian recessive.1-5 The latter patients suffer from varying degrees of macrocephalus, hepatosplenomegaly, cranial nerve compression, and anemia.6,7 Because of the encroachment on the bone marrow by unresorbed bone, formed blood elements are inadequately produced.8 This factor combined with decreased platelets and increased hemolysis from hypersplenism9,10 are the usual causes of death from this disease.

Unfortunately, effective therapy is lacking. Previous therapeutic attempts8,11,12 have been only partially successful. The following case report concerns an infant suffering from the malignant form of the disease and the results of the various attempts to promote calcium loss with heparin, as well as parathormone, vitamin A, vitamin D (dihydrotachysterol [Hytakerol]), a chelating agent, and corticosteroids.

Report of a Case  A baby girl

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