Reversal of skeletal radiographic pathology in a case of malignant infantile osteopetrosis following hematopoietic stem cell transplantation

Abstract

Malignant infantile autosomal recessive osteopetrosis (ARO) is rare hereditable skeletal dysplasia characterized by a generalized osteosclerosis. ARO usually runs a fatal course in early childhood if untreated. Serious complications can arise from bone marrow suppression and pancytopenia. Hematopoietic stem cell transplantation (HSCT) is the only available treatment option that has been demonstrated to prolong life expectancy. Few publications with limited study participants have explored the employment of skeletal radiography to evaluate success of HSCT. We assessed the role of skeletal radiography as a tool to evaluate responsiveness to HSCT in a case of ARO with favorable short-term results.

Keywords

• Malignant autosomal recessive osteopetrosis
• Pediatric bone imaging
• Hematopoietic stem cell transplantation
• Genetic osteosclerosing dysplasias
• Marble bone disease
• Resolution