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The Crooked Truth of Segmental Spinal Dysgenesis Multimodality Demonstration of Natural Disease Progression Travis McKenzie DO Debra Desilet-Dobbs MD Jason Meigs DO Cory Pfeifer MD University of Kansas Wichita ASNR 2015 PurposeApproachDiscussion Summary Home Next Back Home Use the navigation tabs to skip to sections of the presentation

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Review common imaging findings of segmental spinal dysgenesis and discuss how to distinguish from other similar disorders. Recognize Treat Understand Early recognition and surgical management can help prevent further motor function loss. Overview of the common associated diseases and the natural disease progression. PurposeApproachDiscussion Summary

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Basics of Segmental Spinal Dysgenesis (SSD) Click on the pictures to learn more about segmental spinal dysgenesis (SSD) Dysmorphic vertebrae in the thoracolumbar or upper lumbar spine. Gibbus deformity is often noted at birth. Early recognition is critical as early operative treatment may prevent progressive motor loss and instability. SSD is a rare spinal anomaly. Familiarity with the distinguishing features from other spinal anomalies aid in early diagnosis and treatment. Congenital abnormality that occurs from abnormal gastrulation. PurposeApproachDiscussion Summary

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Clinical Presentation Presents at birth with a gibbus deformity. May initially have no motor deficits or have spastic paraplegia. Tendon reflexes may be normal, reduced, or absent. PurposeApproachDiscussion Summary

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Imaging SDD A dysmorphic vertebra is present in the thoraco-lumbar region causing focal kyphosis. Plain radiographs are the initial study of choice if gibbus deformity is detected on physical exam. PurposeApproachDiscussion Summary

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Features of SSD Dysmorphic vertebrae with normal vertebrae caudal to dysgenesis. Tethered cord which is focally narrowed at kyphosis and then prominent bulging distal to stenosis. SSD PurposeApproachDiscussion Summary

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CT Findings Advances in volume rendering and reformats aid in understanding the complex vertebral anomaly. This is crucial in distinguishing SSD from other anomalous vertebral diseases. Key findings Normal vertebrae below the dysmorphic level. Pedicles present at dysmorphic level. Document the degree of kyphosis as this is a metric to assess disease progression. PurposeApproachDiscussion Summary

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MR Findings MR is useful to evaluate the spinal canal and spinal cord. Key Findings Tethered cord. Bulging appearance of spinal cord caudal to spinal stenosis. Document degree of spinal stenosis as this used as metric for disease progression. PurposeApproachDiscussion Summary

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Comparing congenital anomalies of the axial spine PurposeApproachDiscussion Summary Multiple Vertebral Segmentation Disorders Congenital Vertebral Displacement Caudal Regression Syndrome Segmental Spinal Dysgenesis

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Distinguishing SSD from Caudal Regression Syndrome (CRS) Usually the agenesis is confined to sacral region in CRS. The cord has a blade shaped appearance in CRS. SSD and CRS may be a spectrum of the same disease. radiopaedia.org PurposeApproachDiscussion Summary CRS

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Distinguishing SSD from Congenital Vertebral Displacement Congenital dislocation at a single level causing offset of spinal canal. Vertebral pedicles are present in CVD and may be absent in SSD. Spinal cord may be stretched or compressed but is otherwise normal in CVD. PurposeApproachDiscussion Summary CVD

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Distinguishing from Multiple Vertebral Segmentation Disorders Usually demonstrates multiple segmental anomalies throughout the axial spine. Abnormal rib formations. PurposeApproachDiscussion Summary MVSD

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Pop Quiz Sorry, Try Again Which of the following features is characteristic of segmental spinal dysgenesis (SSD)? Please click the most correct answer A. A. Tethered cord with bulging distal to stenosis B. Blade shaped blunted cord C. Multiple segmental anomalies throughout axial spine D. Congenital dislocation with offset at single level PurposeApproachDiscussion Summary

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Pop Quiz A distinct feature of SSD is narrowing of the tethered cord at the congenital stenosis with bulging appearance of distal cord. A. Tethered cord with bulging distal to stenosis B. Blade shaped blunted cord C. Multiple segmental anomalies throughout axial spine D. Congenital dislocation with offset at single level PurposeApproachDiscussion Summary Which of the following features is characteristic of segmental spinal dysgenesis (SSD)? Please click the most correct answer

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Strongly Associated Diseases Present in nearly all cases Neurogenic bladder Bilateral equinovarus talipes Vertebral anomalies Renal anomalies PurposeApproachDiscussion Summary

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Treatment Surgical intervention is indicated as soon as SSD is identified. Early Preventative Fusion The purpose of surgical treatment is to prevent progressive kyphosis/instability and spinal canal stenosis. Anterior and posterior arthrodesis with decompression of spinal canal is commonly performed. Multiple procedures may be needed to obtain solid fusion of the spine. PurposeApproachDiscussion Summary

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Pop Quiz When is it most appropriate to undergo surgical intervention? Please click the most correct answer Sorry, Try Again B. As soon as possible C. After puberty A. After 1 year of age D. 3-6 months old PurposeApproachDiscussion Summary

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Pop Quiz B. As soon as possible C. After puberty A. After 1 year of age D. 3-6 months old Correct. Early surgical treatment helps to prevent spinal instability and progressive neurologic deficit. When is it most appropriate to undergo surgical intervention? Please click the most correct answer PurposeApproachDiscussion Summary

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Approach A unique case of untreated segmental spinal dysgenesis will be used to demonstrate the clinical and morphologic progression over a 14 year time span using multiple modalities (x-ray, CT, and MR). PurposeApproachDiscussion Summary

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Case Study Clinical History Premature (28 wks) African-American male Not initially a surgical candidate Respiratory Distress Syndrome which developed into bronchopulmonary dysplasia. Necrotizing enterocolitis PurposeApproachDiscussion Summary

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Case Study Clinical History Initially moved all extremities and had normal deep tendon reflexes. This progressed to spastic paraplegia by the age of 6 months. Neurogenic bladder. Bilateral club foot. PurposeApproachDiscussion Summary

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Progression 35 Months14 years6 Months Radiographs demonstrate dysmorphic vertebrae in the upper lumbar spine with focal kyphosis. Note the progression of the kyphosis and dysmorphic features. PurposeApproachDiscussion Summary

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Reading Room Age 14 MR Age 3 MR Ax Sag CT XR 5 months XR Age 14 MR Ax Cor Sag CT Ax Cor Sag XR Age 3 MR Ax Sag CT XR 5 months XR Ax Cor Sag CT Ax Cor Sag PurposeApproachDiscussion Summary XR Select any underlined study on either side of the screen to compare Cross-sectional cines may be navigated using the horizontal scroll bar ( ) immediately beneath the images

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Case Study Discussion SSD is a progressive disease if untreated. The patient developed paraplegia as the congenital spinal stenosis progressed. Spinal instability progressed with increasing focal kyphosis. Currently planning surgical treatment on our patient to prevent further instability. Strong associations were present with bilateral equinovarus talipes, tethered cord, and neurogenic bladder. PurposeApproachDiscussion Summary

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Case Study Discussion This unique case confirms the progressive nature of SSD. Early surgical management is considered standard of care. Surgery theoretically decreases spinal instability and has been reported to prevent progressive motor loss. Often multiple surgeries are required to obtain solid fusion. PurposeApproachDiscussion Summary

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SSD is a progressive disease that results in spinal stenosis and instability. Early reconstructive surgery in infancy may prevent progressive motor loss. Early Diagnosis Early Treatment Associated abnormalities Understanding the clinical presentation and imaging findings of SSD is critical for early diagnosis. Be aware that there are multiple associated pathologies of SSD. Among the most common are neurogenic bladder, bilateral equinovarus feet, tethered cord, and closed spinal dysraphisms. PurposeApproachDiscussion Summary

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References 1.P Tortori-Donati, MP Fondelli, ARossi, CA Raybaud, A Cama, Va Capra. Segmental Spinal Dysgenesis: Neuroradiologic Findings with Clinical and Embryologic Correlation. AJNR Am J Neuroradiol 1999 Mar; 20:445456. 2.T Faciszewski ; R B Winter ; J E Lonstein ; S Sane ; D Erickson. Segmental spinal dysgenesis. A disorder different from spinal agenesis. J Bone Joint Surg Am, 1995 Apr; 77 (4): 530 -537. 3.Scott, Michael R. M.D.; Wolpert, Samuel M. M.D.; Bartoshesky, Louis E. M.D.; Zimbler, Seymour M.D.; Karlin, Lawrence M.D. Segmental Spinal Dysgenesis. Neurosurgery, 1988; 22 (4). 4.Hughes, L. O. M.D.; McCarthy, R. E. M.D.; Glasier, C. M. M.D. Segmental Spinal Dysgenesis: A Report of Three Cases. Journal of Pediatric Orthopaedics: March/April 1998; 18 (2):227-23. 5.Flynn, John M. M.D.; Otsuka, Norman Y. M.D.; Emans, John B. M.D.; Hall, John E. M.D.; Hresko, M. Timothy M.D. Segmental Spinal Dysgenesis: Early Neurologic Deterioration and Treatment. Journal of Pediatric Orthopaedics: January/February 1997; 17 (1): 100-104. PurposeApproachDiscussion Summary

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Segmental Spinal Dysgenesis Thank You Rock Chalk Jayhawk! PurposeApproachDiscussion Summary