Osteopetrosis. (Marble bone disease)
| Osteopetrosis is a clinical syndrome characterized by the inability of osteoclasts to perform bone resorption. Serious forms can result in stunted growth, deformity, increased likelihood of fractures, blindness, facial paralysis, and deafness.
Children with malignant infantile osteopetrosis (MIOP) are diagnosed in early infancy. MIOP is characterized by abnormal fragility of the bones, fractures, delayed growth, retarded development, compression neuropathies, hypocalcaemia with the development of seizures, life-threatening pancytopenia. The presentation of the disease is noted at birth or in the first years of life. Children rarely survive without treatment. Seventy percent of children with malignant infantile osteopetrosis die by the age of 6 years, and almost 100 percent do not live to the age of 10 years.
The specialists of pediatric hemato-oncology department at Hadassah University Hospital have performed more than 30 bone marrow transplants for patients with a diagnosis of "osteopetrosis", of which the last 20 using the new protocol, were 95% successful.