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 Purpose Approach Discussion Summary Home Next Back Home Use the navigation tabs to skip to sections of the presentation
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Slide 1
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
Slide 2
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
Slide 3
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
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
Slide 13
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
Slide 14
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
Slide 15
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
Slide 17
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
Slide 20
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
Slide 24
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
Slide 26
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
Slide 27
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