Bone structure investigation in a case of autosomal recessive osteopetrosis

Autosomal Recessive Osteopetrosis (ARO), also named malignant infantile osteopetrosis, is a group of disorders characterized by defective bone resorption by the osteoclasts, inducing a marked increase in bone mass and a high bone fragility. Hematopoietic Stem Cell Transplantation is the therapeutic option to correct ARO in patients with osteoclast-intrinsic disease and without neurodegenerative complications [1-3]. This paper presents the first extended description of the abnormalities still present in the ARO bone structure after correction by HSCT.