Identification of clinical and radiographic predictors of central nervous system injury in genetic skeletal disorders.

Some studies report neurological lesions in patients with genetic skeletal disorders (GSDs). However, none of them describe the frequency of neurological lesions in a large sample of patients or investigate the associations between clinical and/or radiological central nervous system (CNS) injury and clinical, anthropometric and imaging parameters. The project was approved by the institution's ethics committee (CAAE 49433215.5.0000.0022). In this cross-sectional observational analysis study, 272 patients aged four or more years with clinically and radiologically confirmed GSDs were prospectively included. Genetic testing confirmed the diagnosis in the FGFR3 chondrodysplasias group. All patients underwent blinded and independent clinical, anthropometric and neuroaxis imaging evaluations. Information on the presence of headache, neuropsychomotor development (NPMD), low back pain, joint deformity, ligament laxity and lower limb discrepancy was collected. Imaging abnormalities of the axial skeleton and CNS were investigated by whole spine digital radiography, craniocervical junction CT and brain and spine MRI. The diagnostic criteria for CNS injury were abnormal clinical and/or radiographic examination of the CNS. Brain injury included malacia, encephalopathies and malformation. Spinal cord injury included malacia, hydrosyringomyelia and spinal cord injury without radiographic abnormalities. CNS injury was diagnosed in more than 25% of GSD patients. Spinal cord injury was found in 21.7% of patients, and brain injury was found in 5.9%. The presence of low back pain, os odontoideum and abnormal NPMD remained independently associated with CNS injury in the multivariable analysis. Early identification of these abnormalities may have some role in preventing compressive CNS injury, which is a priority in GSD patients.

Osteoporosis-related fractures after spinal cord injury: a retrospective study from Brazil.

STUDY DESIGN: Retrospective study OBJECTIVES: To describe the epidemiological and clinical profile in a retrospective chart review of individuals with spinal cord injury (SCI) and osteoporosis-related fractures. SETTING: A Brazilian rehabilitation hospital. METHODS: This is a retrospective chart review that included 325 individuals with SCI and osteoporosis-related fractures who were admitted to a Brazilian rehabilitation hospital between January 1997 and December 2017. RESULTS: Overall, 52% were males with a mean (SD) age of 44.8 (±16.7) years at the time of first fracture. Overall, 82% had paraplegia and 56% had a thoracic neurological level. The mean (SD) time between SCI and fracture was 9.7 (±9.3) years. In 59% of cases the immediate cause of the fracture was a fall. The locations of the fractures were distal femur (27%), proximal femur (27%), and tibia and/or distal fibula (28%). The fractures occurred mostly at home (63%). Complications occurred in 19% of individuals and 25% reported worse performance in activities of daily living and 29% a deterioration in ambulation after they had recovered from the fracture. A second fracture was described in 15% of individuals, and five individuals had a third fracture. The mean (SD) level of 25 hydroxyvitamin D [25 (OH) D] was 25.6 (±15.2) ng/ml, and only 11 individuals (3%) underwent dual energy X-ray absorptiometry (DEXA), and 26 individuals (8%) were treated with antiresorptive drugs after fracture. CONCLUSION: Little is done to prevent fractures in individuals with SCI and understanding the clinical and epidemiological profiles will help identify risk factors and establish prevention programs and appropriate treatment.