Radiological evaluation of the craniocervical junction in bone dysplasias and other related syndromes

Domínguez, Rodrigo; Talmachoff, Peter; Rodríguez, Azucena

doi:10.1016/0899-7071(94)00027-a

Cited by 5 publications

(13 citation statements)

References 14 publications

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“…Cervical SCIs were the most frequently found, as described by previous studies 2 , 3 , 5 , 21 , 54 . Among the GSDs, achondroplasia is most commonly associated with SCI and has been found in approximately 2 to 5% of patients 21 , 51 , 54 ; however, other authors found a higher frequency of SCI in achondroplasia (28 to 33%) 5 , 44 .…”

Section: Discussionsupporting

confidence: 73%

“…Genetic skeletal diseases (GSDs) include dysostoses (focal bone abnormalities of one or a group of bones), skeletal dysplasias (abnormalities that affect the development of bones and cartilage tissues), disruptions (malformations of bones secondary to nonskeletal causes) and osteolyses (regressive and resorptive bone abnormalities) 1 . Patients with GSDs are at an increased risk of brain, spinal cord and spinal root injury 2 – 4 . These neurological injuries can occur even in the absence of trauma 5 .…”

Section: Introductionmentioning

confidence: 99%

“…In individuals with GSDs, the primary mechanisms of nervous system injury 2 , 5 , 6 , 10 – 13 are driven by gene mutations. There are also secondary mechanisms related to skeletal abnormalities 2 – 5 , 10 .…”

Section: Introductionmentioning

confidence: 99%

“…There are also secondary mechanisms related to skeletal abnormalities 2 – 5 , 10 . 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 CCJ and between vertebrae 3 , 4 , 16 – 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 – 25 ; abnormal spinal curvatures, which change the distribution of the axial load and compromise the spinal balance 2 , 3 , 10 , 26 – 29 ; and disorganized development of the skeletal components, such as that in cases of osteochondromas, which grow inside the skull and vertebrae 30 – 40 . It is also necessary to be aware that the findings of neurological examinations can be affected by cognitive, consciousness and/or osteoarticular impairments 41 , 42 and that there are patients with clinical evidence of spinal cord injury without radiographic abnormalities (SCIWORA) 4 , 6 , 43 .…”

Section: Introductionmentioning

confidence: 99%

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

Cunha

Champs

Mello

et al. 2021

Sci Rep

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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.

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Section: Discussionsupporting

confidence: 73%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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

Cunha

Champs

Mello

et al. 2021

Sci Rep

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“…MRI has a better resolution; differentiates between early cord compromise and acute injury; and can demonstrate hydrocephalus, cord flattening and associated bony anomalies [9] (Fig. Therefore, the optimal retesting interval in screening needs to be determined.…”

Section: Discussionmentioning

confidence: 99%

Screening for spinal stenosis in achondroplastic patients undergoing limb lengthening

Fernandes

Devalia²,

Moras³

et al. 2014

Journal of Pediatric Orthopaedics B

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The need for a screening programme for spinal stenosis in children with achondroplasia undergoing limb lengthening was identified in a tertiary limb reconstruction service. The aim of this study was to evaluate whether screening would identify the 'at risk' group. A total of 26 achondroplastic patients underwent our screening programme. Canal diameters were measured by MRI. Neurosurgical interventions were recorded. Of the patients, 13 had severe foramen magnum narrowing. Six patients required single or multiple surgical decompressions. We identified female sex, delayed milestones and a tight cervicomedullary junction as high risks. We stress upon the importance of developing a nationalized screening programme with guidelines to identify a high-risk group.

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Malformations congénitales du rachis

Adamsbaum¹,

Merzoug²,

Hamidou³

et al. 2006

EMC - Radiologie et imagerie médicale - Musculosquelettique - N

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Radiological evaluation of the craniocervical junction in bone dysplasias and other related syndromes

Cited by 5 publications

References 14 publications

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

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

Screening for spinal stenosis in achondroplastic patients undergoing limb lengthening

Malformations congénitales du rachis

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