Surgical decompression may be required to relieve elevated intracranial pressure or for trapped facial or auditory nerves. Osteopetrosis with delayed manifestations occurs in childhood, adolescence, or young adulthood. Affected persons may be asymptomatic, the diagnosis made by chance when x-rays are taken for an unrelated purpose. The facies, physique, mentality, and life span are normal, and general health is unimpaired. Occasionally, the presenting feature is facial palsy or deafness resulting from cranial nerve compression by bone overgrowth.
Mild anemia is a rare complication.
The skeleton usually is radiologically normal at birth, bone sclerosis becoming increasingly apparent as childhood progresses. Bony involvement is widespread but patchy, and the extremities are sometimes spared. The calvaria is dense, and the sinuses may be obliterated. In some patients, treatment of anemia with transfusion or splenectomy may be needed. Bone overgrowth produces marrow dysfunction, and presenting symptoms include failure to thrive, spontaneous bruising, abnormal bleeding, and anemia.