MALIGNANT INFANTILE OSTEOPETROSIS - PATHO GENESIS AND THERAPEUTIC OPTIONS

Malignant infantile osteopetrosis is a rare disease but can be clinica lly unequivocally diagnosed. Normal bone formation in the presence of decreased bone breakdown leads to the typical symptoms. The only prove n curative approach, bone marrow transplantation, can reverse most of the symptoms and prevent progression to irreversible nerve damage when done early in infancy. Therefore, early diagnosis is decisive. We pre sent a case report of an infant with osteopetrosis and discuss pathoge nesis and therapeutical options.