Ultrasound-guided spinal anesthesia in a patient with osteogenesis imperfecta

Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare genetic disorder of type I collagen with multiple causative gene variants, leading to multiple phenotypic subtypes, associated with bone fragility, fractures, and connective tissue abnormalities. OI results in anatomic and physiological abnormalities, which makes any form of anesthesia a challenging task involving a careful multidisciplinary approach. The original SILLENCE classification identified four types of OI, based upon clinical features and genetic inheritance. Mutations in COL1A1 and COL1A2 genes and abnormalities within the a1 and a2 chains of type I collagen (the most abundant protein of bone, skin, and tendon) cause 85–95% of OI cases. The defect in skeletal growth results in increased fragility of bones, hypermobile limbs, chest wall deformities, and kyphoscoliosis. In such a disorder, anesthesiologists are challenged by difficult airways, short necks, risk of odontoaxial dislocation, cervical vertebrae, mandibles, and tooth fractures during laryngoscopy and intubation. These patients may also have pulmonary function impairment (restrictive type), cardiac valvular lesions, cor pulmonale, neurologic abnormalities, blue sclera, hearing loss, hyperhidrosis, cleft palate, metabolic abnormalities, malignant hyperthermia, obstructive uropathy following renal and ureteric stones, and platelet dysfunction. We report on a case of anesthetic management of a known case of OI who underwent a TENS (Titanium elastic nail) nail removal of the femur.