Osteopetrosis

Abstract

Osteopetrosis is a rare disease that occurs when a child has an unequal balance between new bone growth and elimination of old bone. Children with this entity are able to make new bone tissue, but are not able to break down and eliminate old bones, which is essential for normal bone growth. These thickened and enlarged bones are very weak. These children can exhibit: failure to thrive, macrocephaly, anemia, deafness, and blindness. We will present a case of osteopetrosis, esotropia, and amblyopia of a 7-year-old boy and will discuss the pathophysiology and treatment.

Keywords: amblyopia; bone marrow transplant; failure to thrive; optic nerve decompression; osteopetrosis; strabismus.