Abstract
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.
Highlights
Some studies report neurological lesions in patients with genetic skeletal disorders (GSDs)
Neurological injury may occur, especially when the following characteristics are present: bone fragility, which increases the risk of skull and vertebrae fractures[3,14,15]; ligament laxity, which is associated with instability and dislocations of the craniocervical junction (CCJ) and between vertebrae[3,4,16,17,18,19]; an abnormal configuration of the skull and vertebrae, such as that in cases of platybasia, basilar impression/invagination (BII), an abnormal odontoid process and platyspondyly[2,7,10,15,17,18,20,21,22,23,24,25]; abnormal spinal curvatures, which change the distribution of the axial load and compromise the spinal b alance[2,3,10,26,27,28,29]; and disorganized development of the skeletal components, such as that in cases of osteochondromas, which grow inside the skull and vertebrae[30,31,32,33,34,35,36,37,38,39,40]
Clinical and/or radiological parameters associated with neurological injury were assessed in GSD patients
Summary
Some studies report neurological lesions in patients with genetic skeletal disorders (GSDs). Patients with GSDs are at an increased risk of brain, spinal cord and spinal root injury[2,3,4] These neurological injuries can occur even in the absence of trauma[5]. The most common brain abnormalities that can be detected by imaging in GSD10 are the following: enlargement of the ventricular system (ventriculomegaly and hydrocephalus), structural brain abnormalities (holoprosencephaly, agenesis and hypoplasia of the cerebellum and brain components, malformations of cortical development, abnormalities of neuronal migration, cerebellar tonsillar ectopia and arachnoid cysts), cortical and brain white matter signal intensity abnormalities (demyelination and hypomyelination), ischemic lesions (gliosis, encephaloma and hypoxia) and cerebrovascular abnormalities
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