1 Marble Bone Disease Marble bone disease, the other infantile form of osteopetrosis, is not characterized by bone marrow failure. Although survival rates are better for patients with marble bone disease than for patients with osteopetrosis congenita, the consequences of renal tubular acidosis may shorten life expectancy. Patients with marble bone disease are usually of short stature and present with intracranial calcifications, sensorineural hearing loss and psychomotor retardation. Osteopetrosis tarda requires no treatment, except in patients who present with surgical or medical complications. Surgical treatment is sometimes essential in order to obtain the best aesthetic and functional results, such as in cases of significant alterations of facial profile 7 and recurrent fractures with subsequent deformity.
Surgical intervention is also necessary in some cases of severe related degenerative joint disease.
Both internal 8 and external 9 fixations have been used with excellent results. Several treatment modalities have been under investigation for the infantile malignant variant of osteopetrosis. Results of a recent retrospective study 10 that reviewed outcomes of 69 patients who received bone marrow grafts between 1976 and 1994 indicated that bone marrow transplant is the only curative treatment for this autosomal recessive variant. This conclusion was further supported by the outcome of a study 11 of eight patients who underwent allogenic bone marrow transplant from 1987 to 1992. Investigators concluded that bone marrow transplant offered a cure of both the bone marrow failure and the metabolic disturbances.