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Management of cervical myelopathy due to ossification of posterior longitudinal ligament in a patient with Alstrom syndrome.

ABSTRACT: INTRODUCTION: Alström syndrome (AS) is a rare autosomal recessive genetic disorder with multisystemic involvement characterised by early blindness, hearing loss, obesity, insulin resistance, diabetes mellitus, dilated cardiomyopathy, and progressive hepatic and renal dysfunction. The clinical features, time of onset and severity can vary greatly among different patients. Many of the phenotypes are often not present in infancy but develop throughout childhood and adolescence. Recessively inherited mutations in ALMS1 gene are considered to be responsible for the causation of AS. Musculoskeletal manifestations including scoliosis and kyphosis have been previously described. CASE REPORT: Here, we present a patient with AS who presented with cervical myelopathy due to extensive flowing ossification of the anterior and posterior longitudinal ligaments of the cervical spine resulting in cervical spinal cord compression. The presence of an auto-fused spine in an acceptable sagittal alignment, in the background of a constellation of medical comorbidities, which necessitated a less morbid surgical approach, favored a posterior cervical laminectomy decompression in this patient. Postoperatively, the patient showed significant neurological recovery with improved function. Follow-up MRI showed substantial enlargement of the spinal canal with improved space available for the spinal cord. The rarity of the syndrome, cervical myelopathy due to ossified posterior longitudinal ligament as a disease phenotype and the treatment considerations for performing a posterior cervical decompression have been discussed in this Grand Rounds' case presentation.

SUBMITTER: Kanna RM

PROVIDER: S-EPMC3508221 | biostudies-other | 2012 Dec

REPOSITORIES: biostudies-other

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Management of cervical myelopathy due to ossification of posterior longitudinal ligament in a patient with Alström syndrome.

Kanna Rishi Mugesh RM Gradil Daniela D Boszczyk Bronek M BM

European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society 20120511 12

<h4>Introduction</h4>Alström syndrome (AS) is a rare autosomal recessive genetic disorder with multisystemic involvement characterised by early blindness, hearing loss, obesity, insulin resistance, diabetes mellitus, dilated cardiomyopathy, and progressive hepatic and renal dysfunction. The clinical features, time of onset and severity can vary greatly among different patients. Many of the phenotypes are often not present in infancy but develop throughout childhood and adolescence. Recessively i ...[more]

PMID: 22576155

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Project description:BackgroundA high false-negative rate has been reported for the diagnosis of ossification of the posterior longitudinal ligament (OPLL) using plain radiography. We investigated whether deep learning (DL) can improve the diagnostic performance of radiologists for cervical OPLL using plain radiographs.Materials and methodsThe training set consisted of 915 radiographs from 207 patients diagnosed with OPLL. For the test set, we used 200 lateral cervical radiographs from 100 patients with cervical OPLL and 100 patients without OPLL. An observer performance study was conducted over two reading sessions. In the first session, we compared the diagnostic performance of the DL-model and the six observers. The diagnostic performance was evaluated using the area under the receiver operating characteristic curve (AUC) at the vertebra and patient level. The sensitivity and specificity of the DL model and average observers were calculated in per-patient analysis. Subgroup analysis was performed according to the morphologic classification of OPLL. In the second session, observers evaluated the radiographs by referring to the results of the DL-model.ResultsIn the vertebra-level analysis, the DL-model showed an AUC of 0.854, which was higher than the average AUC of observers (0.826), but the difference was not significant (p = 0.292). In the patient-level analysis, the performance of the DL-model had an AUC of 0.851, and the average AUC of observers was 0.841 (p = 0.739). The patient-level sensitivity and specificity were 91% and 69% in the DL model, and 83% and 68% for the average observers, respectively. Both the DL-model and observers showed decreases in overall performance in the segmental and circumscribed types. With knowledge of the results of the DL-model, the average AUC of observers increased to 0.893 (p = 0.001) at the vertebra level and 0.911 (p < 0.001) at the patient level. In the subgroup analysis, the improvement was largest in segmental-type (AUC difference 0.087; p = 0.002).ConclusionsThe DL-based OPLL detection model can significantly improve the diagnostic performance of radiologists on cervical radiographs.

Dataset Information

Management of cervical myelopathy due to ossification of posterior longitudinal ligament in a patient with Alstrom syndrome.

Publications

Management of cervical myelopathy due to ossification of posterior longitudinal ligament in a patient with Alström syndrome.

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