Pediatria pre prax 6/2013
Thomas, who had head as a rock...
Malignant osteopetrosis (MIOP) presents early in life with extreme sclerosis of the skeleton and reduction of bone marrow spaces. Since there is a defect in osteoclasts, the disease can cause anemia, extramedullary hematopoiesis secondary to anemia leading to hepatosplenomegaly, cranial nerves compression via bone growth. Stem cell transplantation remains the only curative therapy. We report a ten-month old male infant, diagnosed as MOP while investigating the cause of macrocephaly and visus involvment.
Keywords: malignant osteopetrosis, CICN7 gene.
