Orthopedic manifestations of ataxia telangiectasia in children

Ataxia telangiectasia AT), an autosomal recessive disorder due to mutations in the ATM gene, results in progressive cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, pulmonary compromise, sensitivity to ionizing radiation, and increased risk of hematologic malignancies. Orthopedic manifestations such as scoliosis, hip displacement, gait abnormalities, and extremity contractures are common, but reports are scarce. This study aimed to evaluate and summarize the orthopedic manifestations associated with AT. A retrospective review was conducted of patients with AT. Reported outcomes included demographics, orthopedic manifestations and operative/nonoperative treatments, radiographic exposure, development of malignancy, and ambulatory status (using the Functional Mobility Scale at 50 m, FMS50). Twenty-four children were included [11 (45.8%) female] with a mean age at diagnosis of 5.5 (SD = 3.5) years. The most common reason for orthopedic consultation was ataxia; 12 (50%) were walkers (FMS50 = 4, 5) and 12 nonwalkers (FMS50 = 1, 2). Foot deformities were present in 10 (42%) including pes planovalgus (N = 6, 25%), Achilles tendon contracture (N = 1, 4%), hallux valgus (N = 1, 4%; underwent Akin osteotomy), equinovarus (N = 1.4%), and gastrocnemius contracture (N = 1, 4%). Six children (25%) developed scoliosis, and three underwent fusion. Other manifestations included hip flexion contracture (N = 2, 8%), hamstring contracture (N = 2, 8%), torticollis (N = 1, 4%), and osteomyelitis of the ischium (N = 1, 4). This report describes orthopedic manifestations associated with AT, most commonly foot deformities, followed by scoliosis. Since radiographic surveillance was not performed due to radiosensitivity, the frequency of hip displacement in AT could not be ascertained. Orthopedic surgical interventions, where required, were generally successful. Level of evidence: 3.