Last update:
02-Nov-2000

Arch Hellen Med, 17(2), March-April 2000, 189-192

SHORT COMMUNICATION

Infantile type malignant osteopetrosis

E.S. HATZIPANTELIS,¹ N. GOMBAKIS,¹ V. DOULIOGLOU,¹
M. BANTOURAKI,² D.J. ZAFIRIOU¹, G. KATZOS¹

¹1st Department of Pediatrics, Aristotle University of Thessaloniki,
²Department of Radiology, Hippokration General Hospital, Thessaloniki, Greece

The case is described of a full-term male infant with malignant osteopetrosis, the first child of consaguinous parents. Pregnancy, labor and the early neonatal period were uneventful. The baby was admitted at the age of two months because of anemia, hepatosplenomegaly, growth failure, nasal congestion and continuous oscillary nystagmoid eye movements. The pathological, biochemical and he matological profile, the specific X-ray findings and the results of the immunological tests pointed to the diagnosis of malignant osteopetrosis, infantile type, which was subsequently confirmed by bone biopsy. Treatment was initially symptomatic with transfusion of red cells and pla telets, and calcium and phosphate administration. At the age of three months treatment with recombinant human interferon gamma was initiated. Bone resorption and he matopoietic function improved under this regime and the number of opportunistic infections decreased. In spite of all therapeutic measures the baby died four months later from sepsis. The rarity of the disease and its differential diagnosis are discussed.

Key words: Infant, Malignant type, Osteopetrosis.