Managing Osteopetrosis in the Complex Polytrauma Orthopedic Patient

Abstract

Osteopetrosis is a genetic illness defined by defective osteoclasts that are incapable of absorbing adequate amounts of bone. This exceedingly rare disorder has been linked to multiple genetic mutations that have a direct impact on osteoclast function. Osteopetrosis causes bones to become brittle with large amounts of cortical bone formation making patients susceptible to pathologic fractures, pancytopenia, and cranial neuropathies among other sequelae. Known as the "marble bone disease," this condition can range from as severe as causing death in newborn infants to as mild as an incidental finding of increased cortical thickening in a trauma patient. This case demonstrates an incidental finding of osteopetrosis in a trauma patient who suffered from significant injuries as a result of a high-velocity trauma. The patient was the pedestrian in a car vs pedestrian accident and suffered from a central cord syndrome in his cervical spine, a right humerus fracture, a left subtrochanteric femur fracture, a right tibia fracture, and a right fibula fracture. This case report illustrates the complexity of dealing with a polytrauma patient with osteopetrosis and reviews the literature on the approach to fracture fixation in osteopetrotic individuals. This paper will also discuss current medication recommendations and the current standard of care for optimizing patients with osteopetrosis as well as genetic counseling.

Carbonic Anhydrase II Activators in Osteopetrosis Treatment: A Review

“…HSCT does not reverse other kinds of intrinsic retinal and neural degenerative burdens. This means that molecular identification and utilization of newborn's HSCT's potential benefits and limits or future genetic manipulation will need to occur soon after birth in afflicted infants [63].…”

Outlining the Clinical Profile of TCIRG1 14 Variants including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families

“…Osteopetrosis is a rare genetic disease distinguished by flawed osteoclasts that has been linked to multiple genetic mutations with direct impact on osteoclast function with consequent large quantities of cortical bone deposition in a disorganized pattern, creating brittle bones prone to fracture [ 1 ].Defective osteoclast differentiation or function causes a disequilibrium of bone turnover, deformities, and impaired mineral homeostasis that gives rise to structural fragility [ 2 ]. Ethnic variations in bone mineral density (BMD) do not persistently follow special ethnic forms in fracture rates.…”