A 7-year-old boy with osteogenesis imperfecta presents with a femur fracture.
A mutation in the gene for collagen formation leads to bones that are prone to fractures. Different types of osteogenesis imperfecta exist; the severity ranges from mild disease to lethal. Patients have short statures, scoliosis, hearing loss, easy bruising, and hyperextensibility of joints. Type 1 osteogenesis imperfecta is associated with platelet dysfunction. Type II is the most severe form, with restrictive lung disease, underdeveloped lungs, and congestive heart failure. A cardiac workup is mandatory for patients with type II osteogenesis imperfecta.
Fractures can occur during positioning and during any manipulation, including airway management.
Malignant hyperthermia is not clearly associated with osteogenesis imperfecta, but the patient can develop hyperthermia of unknown cause during general anesthesia. This usually responds to standard cooling measures.
Patients often present with a short neck, kyphoscoliosis, and a fused cervical spine, which makes the airway management difficult. Basilar impression occurs when the cervical spine indents the skull.
A delirious or agitated child may fracture more bones in the postoperative period; therefore, adequate analgesia is essential.
DOs and DON’Ts
✓ Be extremely careful with positioning the patient. If the patient is cooperative, find a comfortable position with the patient awake.
✓ Consider a fiberoptic intubation if a laryngoscopy is likely to cause fractures.
⊗ Avoid succinylcholine because fasciculations can cause fractures.
✓ Do start an arterial line in severely affected patients to prevent fractures from the blood pressure cuff.
There is one convincing case report of malignant hyperthermia in a patient with osteogenesis imperfecta, and there are multiple case reports of hyperthermia and metabolic acidosis that have responded to standard treatment. It is now widely accepted that malignant hyperthermia is not associated with osteogenesis imperfecta.
Surgical options for patients with osteogenesis imperfecta include placement of intramedullary rods, surgery to manage basilar impression, and correction of scoliosis. The unstable bones make internal fixation very difficult.
Prince Ivan the Boneless lived in the ninth century in Denmark. He was carried into battle on a shield because he was unable to walk on his soft legs.