THERAPEUTIC STUDIES IN OSTEOPETROSIS

Four cases of osteopetrosis, with manifestations within the first months of life, are presented. The first two cases were siblings. One of them received no therapy, the other 12 blood transfusions and antibiotics. Therapy had no influence on the thrombocytopenia and haemolytic process in Case 2, and he developed rachitic-like changes and a decrease in serum calcium during hospitalization. Both these two siblings died at the age of 5 months. The last two cases have been on prednisone therapy for 21 and 14 months, respectively. Case 3 is now doing well on prednisone, 7.5–10 mg every other day. Her mental and stato-motoric development has so far been normal. Optic nerve decompression was performed in March 1968, and the eye on which the operation was performed still retains some vision. Case 4 was started on steroids when he was about 3 months older than Case 3. Splenectomy had to be performed due to high prednisone requirements, and he still needs prednisone, 15 mg every other day. He seems, unfortunately, to be blind and slightly retarded. Heparin seems to be of no practical value in this disorder. Cellulose phosphate therapy resulted in impaired calcium absorption. The resulting hypocalcemia seems, however, to have very little, if any, effect on the underlying disease.