AJR Integrative Imaging

LIFELONG LEARNING FOR RADIOLOGY

Congenital Spine and Spinal Cord Malformations Pictorial Review

Stephanie L. Rufener1,2, Mohannad Ibrahim2, Charles A. Raybaud3, Hemant A. Parmar2

Objective
Congenital abnormalities of the spine and spinal cord are referred to as spinal dysraphisms. This article reviews nor mal embryological development of the spine and spinal cord and the imaging findings of congenital abnormalities of the spine and spinal cord with particular focus on MRI.

posed to the environment. In a closed spinal dysraphism, the neural tissue is covered by skin. Closed spinal dysra phisms can be further subcategorized on the basis of the presence or absence of a subcutaneous mass [4]. Appendix 1 summarizes the key features of open and closed spinal dysraphisms. Open Spinal Dysraphisms Myelomeningocele and myeloceleMyelomeningoceles and myeloceles are caused by defective closure of the primary neural tube and are characterized clinically by exposure of the neural placode through a midline skin defect on the back. Myelomeningoceles account for more than 98% of open spinal dysraphisms [1]. Myeloceles are rare. Open spi nal dysraphisms are often diagnosed clinically, so imaging is not always performed. When imaging is performed, the main differentiating feature between a myelomeningocele and myelocele is the position of the neural placode relative to the skin surface [2]. The neural placode protrudes above the skin surface with a myelomeningocele (Fig. 2) and is flush with the skin surface with a myelocele (Fig. 3). Hemimyelomeningocele and hemimyeloceleHemimy elomeningoceles and hemimyeloceles can also occur but are extremely rare [5]. These conditions occur when a myelo meningocele or myelocele is associated with diastematomy elia (cord splitting) and one hemicord fails to neurulate. Closed Spinal Dysraphisms With a Subcutaneous Mass Lipomas with a dural defectLipomas with a dural defect include both lipomyeloceles and lipomyelomeningoceles. These abnormalities result from a defect in primary neuru lation whereby mesenchymal tissue enters the neural tube and forms lipomatous tissue [6]. Lipomyeloceles and lipo myelomeningoceles are characterized clinically by the pres ence of a subcutaneous fatty mass above the intergluteal crease. The main differentiating feature between a lipomy

Conclusion
Knowledge of the normal development of the spine and spinal cord provides a framework for understanding these complex entities.

Spinal Cord Development

Spinal development can be summarized in three basic embryologic stages [1, 2]. The first stage is gastrulation and occurs during the second or third week of embryonic devel opment. Gastrulation involves conversion of the embryonic disk from a bilaminar disk to a trilaminar disk composed of ectoderm, mesoderm, and endoderm. The second stage in spinal development is primary neurulation (weeks 34) in which the notochord and overlying ectoderm interact to form the neural plate. The neural plate bends and folds to form the neural tube, which then closes bidirectionally in a zipperlike manner (Fig. 1). The final stage of spinal devel opment is secondary neurulation (weeks 56). During this stage, a secondary neural tube is formed by the caudal cell mass. The secondary neural tube is initially solid and subse quently undergoes cavitation, eventually forming the tip of the conus medullaris and filum terminale by a process called retrogressive differentiation. Abnormalities in any of these steps can lead to spine or spinal cord malformations.

Categorization of Spinal Dysraphisms

Spinal dysraphisms can be broadly categorized into open and closed types [13]. In an open spinal dysraphism, there is a defect in the overlying skin, and the neural tissue is ex

Keywords: congenital spinal cord malformation, congenital spine malformation, spinal dysraphism, spine DOI:10.2214/AJR.07.7141 Received November 20, 2008; accepted after revision March 14, 2009. Presented at the 2008 annual meeting of the American Roentgen Ray Society, Washington, DC.
1 2 3

Present address: Mount Scott Diagnostic Imaging Center, 9200 SE 91st Ave., Ste. 330, Portland, OR 97086. Address correspondence to S. L. Rufener (stephanie_rufener@yahoo.com). Department of Radiology, University of Michigan Hospital, Ann Arbor, MI. Department of Pediatric Neuroradiology, The Hospital for Sick Children, Toronto, ON, Canada.

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Fig. 1Illustrations of primary neurulation. AD, Notochord (circle) interacts with overlying ectoderm to form neural plate (dark green), which then bends to form neural tube that ultimately closes in zipperlike fashion.

Fig. 2Myelomeningocele. A, Axial schematic of myelomeningocele shows neural placode (star) protruding above skin surface due to expansion of underlying subarachnoid space (arrow). B, Axial T2-weighted MR image in 1-day-old boy shows neural placode (black arrow) extending above skin surface due to expansion of underlying subarachnoid space (white arrow), which is characteristic of myelomeningocele. C, Sagittal T2-weighted MR image from same patient as in B with myelomeningocele shows neural placode (white arrow) protruding above skin surface due to expansion of underlying subarachnoid space (black arrow).

elocele and lipomyelomeningocele is the position of the placodelipoma interface [4]. With a lipomyelocele, the pla codelipoma interface lies within the spinal canal (Fig. 4). With a lipomyelomeningocele, the placodelipoma interface lies outside of the spinal canal due to expansion of the sub arachnoid space (Fig. 5).

MeningoceleHerniation of a CSF-filled sac lined by dura and arachnoid mater is referred to as a meningocele. The spinal cord is not located within a meningocele but may be tethered to the neck of the CSF-filled sac. Posterior meningoceles herniate through a posterior spina bifida (os seous defect of posterior spinal elements) and are usually

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Fig. 3Myelocele. A, Axial schematic of myelocele shows neural placode (arrow) flush with skin surface. B, Axial T2-weighted MR image in 1-day-old girl shows exposed neural placode (arrow) that is flush with skin surface, consistent with myelocele. There is no expansion of underlying subarachnoid space.

Fig. 4Lipomyelocele. A, Axial schematic of lipomyelocele shows placodelipoma interface (arrow) lies within spinal canal. B, Axial T2-weighted MR image in 3-year-old girl shows placodelipoma interface (arrow) within spinal canal, characteristic for lipomyelocele. C, Sagittal T1-weighted MR image in 3-year-old girl with lipomyelocele shows subcutaneous fatty mass (black arrow) and placodelipoma interface (white arrow) within spinal canal.

Fig. 5Lipomyelomeningocele. A, Axial schematic of lipomyelomeningocele shows placodelipoma interface (arrow) lies outside of spinal canal due to expansion of subarachnoid space. B, Axial T1-weighted MR image in 18-month-old boy shows lipomyelomeningocele (arrow) that is differentiated from lipomyelocele by location of placodelipoma interface outside of spinal canal due to expansion of subarachnoid space.

B
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Fig. 6Posterior meningocele. A, Sagittal T1-weighted MR image in in 12-month-old girl shows posterior herniation of CSF-filled sac (arrow) in occipital region, consistent with posterior meningocele. B, Sagittal T2-weighted MR image in 5-year-old boy shows large posterior meningocele (arrow) in cervical region. C, Sagittal T2-weighted MR image in 30-month-old girl shows small posterior meningocele (arrow) in lumbar region.

Fig. 7Meningocele. A and B, Sagittal (A) and axial (B) T2-weighted MR images in 6-month-old boy show small anterior meningocele (arrows).

lumbar or sacral in location but also can occur in the oc cipital and cervical regions (Fig. 6). Anterior meningoceles are usually presacral in location but also can occur else where [7] (Fig. 7). Terminal myelocystoceleHerniation of large terminal syrinx (syringocele) into a posterior meningocele through a

posterior spinal defect is referred to as a terminal myelocys tocele [2] (Fig. 8). The terminal syrinx component communi cates with the central canal, and the meningocele component communicates with the subarachnoid space. The terminal syrinx and meningocele components do not usually commu nicate with each other [8].

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Fig. 8Terminal myelocystocele. A, Sagittal schematic of terminal myelocystocele shows terminal syrinx (star) herniating into large posterior meningocele (arrows). B and C, Sagittal (B) and axial (C) T2-weighted MR images in 1-month-old girl show terminal syrinx (white arrows) protruding through large posterior spina bifida defect and herniating into posterior meningocele component (black arrows). Sagittal image shows turbulent flow in more anterior meningocele component (star, B).

MyelocystoceleA nonterminal myelocystocele occurs when a dilated central canal herniates through a posterior spina bifida defect (Fig. 9). Myelocystoceles are covered with skin and can occur anywhere but are most commonly seen in the cervical or cervicothoracic regions [9]. Closed Spinal Dysraphisms Without a Subcutaneous Mass Closed spinal dysraphisms without a subcutaneous mass can be subcategorized into simple and complex dysraphic states. Simple dysraphic statesSimple dysraphic states consist of intradural lipoma, filar lipoma, tight filum terminale, persistent terminal ventricle, and dermal sinus. An intradural lipoma refers to a lipoma located along the dorsal midline that is contained within the dural sac (Fig. 10). No open spinal dysraphism is present. Intradural lipo mas are most commonly lumbosacral in location and usu ally present with tetheredcord syndrome, a clinical syn drome of progressive neurologic abnormalities in the setting of traction on a lowlying conus medullaris [2]. Fibrolipomatous thickening of the filum terminale is re ferred to as a filar lipoma. On imaging, a filar lipoma ap pears as a hyperintense strip of signal on T1weighted MR images within a thickened filum terminale (Fig. 11). Filar lipomas can be considered a normal variant if there is no clinical evidence of tetheredcord syndrome [10, 11]. Tight filum terminale is characterized by hypertrophy and shortening of the filum terminale (Fig. 12). This condi

tion causes tethering of the spinal cord and impaired ascent of the conus medullaris. The conus medullaris is low lying relative to its normal position, which is usually above the L2L3 disk level [2]. Persistence of a small, ependymal lined cavity within the conus medullaris is referred to as a persistent terminal ventricle (Fig. 13). Key imaging features include location immediately above the filum terminale and lack of con trast enhancement, which differentiate this entity from other cystic lesions of the conus medullaris [12].

Fig. 9Schematic of nonterminal myelocystocele shows herniation of dilated central canal through posterior spinal defect.

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Fig. 10Intradural lipoma. A and B, Sagittal T1-weighted (A) and sagittal T2weighted fat-saturated (B) MR images in 6-year-old girl show large intradural lipoma (arrows), which is hyperintense on T1-weighted image and hypointense on T2-weighted fat-saturated image. Lipoma is attached to conus medullaris, which is low lying.

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Fig. 11Filar lipoma. A and B, Sagittal (A) and axial (B) T1-weighted MR images in 2-year-old boy with filar lipoma (arrows), which has characteristic T1 hyperintensity and marked thickening of filum terminale.

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A dermal sinus is an epithelial lined fistula that connects neural tissue or meninges to the skin surface. It occurs most frequently in the lumbosacral region and is often associated with a spinal dermoid at the level of the cauda equina or co nus medullaris (Fig. 14). Clinically, patients present with a midline dimple and may also have an associated hairy nevus, hyperpigmented patch, or capillary hemangioma [13]. Surgi cal repair is of great importance because the fistulous con nection between neural tissue and the skin surface can result in infectious complications such as meningitis and abscess. Complex dysraphic statesComplex dysraphic states can be divided into two categories: disorders of midline noto chordal integration, which include dorsal enteric fistula, neurenteric cyst, and diastematomyelia, and disorders of notochordal formation, which include caudal agenesis and segmental spinal dysgenesis. Disorders of midline notochordal integration: Dorsal enteric fistula and neurenteric cystA dorsal enteric fistula occurs when there is an abnormal connection between the skin sur face and bowel. Neurenteric cysts represent a more local ized form of dorsal enteric fistula (Fig. 15). These cysts are lined with mucinsecreting epithelium similar to the gastro intestinal tract and are typically located in the cervicotho racic spine anterior to the spinal cord [14]. DiastematomyeliaSeparation of the spinal cord into two hemicords is referred to as diastematomyelia. The two hemi cords are usually symmetric, although the length of separa tion is variable. There are two types of diastematomyelia. In type 1, the two hemicords are located within individual dural

tubes separated by an osseous or cartilaginous septum (Fig. 16). In type 2, there is a single dural tube containing two hemi cords, sometimes with an intervening fibrous septum [15] (Fig. 17). Diastematomyelia can present clinically with scoliosis and
Fig. 12Sagittal T2weighted MR image in 12-month-old boy shows tight filum terminale, characterized by thickening and shortening of filum terminale (black arrow) with low-lying conus medullaris. Incidental cross-fused renal ectopia (white arrow) is also present.

Fig. 13Persistent terminal ventricle. A and B, Sagittal T2-weighted (A) and sagittal T1-weighted contrast-enhanced (B) MR images in 12-month-old boy show persistent terminal ventricle as cystic structure (arrows) at inferior aspect of conus medullaris, which does not enhance.

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Fig. 14Dermal sinus. A and B, Sagittal schematic (A) and sagittal T2-weighted MR image (B) in 9-year-old girl show intradural dermoid (stars) with tract extending from central canal to skin surface (black arrows). Note tenting of dural sac at origin of dermal sinus (white arrows). C, Axial T2-weighted MR image from same patient as in B shows posterior location of hyperintense dermoid (arrow).

Fig. 15Neurenteric cyst in 3-year-old girl. A and B, Sagittal T2-weighted (A) and axial T1-weighted (B) MR images show bilobed neurenteric cyst (arrows) extending from central canal into posterior mediastinum. C, Three-dimensional CT reconstruction image shows osseous opening (arrow) through which neurenteric cyst passes. This opening is called the Kovalevsky canal.

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Fig. 16Type 1 diastematomyelia. AC, Sagittal T2-weighted MR (A), axial T2-weighted MR (B), and axial CT with bone algorithm (C) images in 6-year-old boy show two dural tubes separated by osseous bridge (arrows), which is characteristic for type 1 diastematomyelia.

Fig. 17Type 2 diastematomyelia. AC, Sagittal T1-weighted (A), coronal T1-weighted (B), and axial T2-weighted (C) MR images in 9-year-old girl show splitting of distal cord into two hemicords (white arrows, B and C) within single dural tube, which is characteristic for type 2 diastematomyelia. Incidental filum lipoma (black arrows, A and B) is present as well.

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Fig. 18Caudal agenesis. A and B, Sagittal T2-weighted (A) and sagittal T1weighted (B) MR images in 6-month-old girl show agenesis of sacrum. Conus medullaris is high in position and wedge shaped (arrow) due to abrupt termination. These findings are characteristic of type 1 caudal agenesis. Distal cord syrinx (arrowhead) is present as well.

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Fig. 19Vertebral segmentation anomalies. A and B, Three-dimensional CT reconstruction image (A) in 4-year-old girl and schematic illustration (B) show multiple segmentation anomalies in lumbar spine (superior to inferior beginning at level of arrow): partial sagittal partition, butterfly vertebra, hemivertebra, tripedicular vertebra, and widely separated butterfly vertebra.

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tetheredcord syndrome. A hairy tuft on the patients back can be a distinctive finding on physical examination [16]. Disorders of notochordal formation: Caudal agenesisCau dal agenesis refers to total or partial agenesis of the spinal column (Fig. 18) and may be associated with the following: anal imperforation, genital anomalies, renal dysplasia or apla sia, pulmonary hypoplasia, or limb abnormalities. Caudal agenesis can be categorized into two types. In type 1, there is a high position and abrupt termination of the conus medul laris. In type 2, there is a low position and tethering of the conus medullaris [17]. Segmental spinal dysgenesisThe clinicalradiologic defi nition of segmental spinal dysgenesis includes several enti ties: segmental agenesis or dysgenesis of the thoracic or lumbar spine, segmental abnormality of the spinal cord or nerve roots, congenital paraparesis or paraplegia, and con genital lower limb deformities. Threedimensional CT re constructions can be helpful in showing various vertebral segmentation anomalies [18] (Fig. 19).

Conclusion
Congenital malformations of the spine and spinal cord can be complex and variable in imaging appearance. An organized approach to imaging findings with consideration of clinical and developmental factors allows greater ease in diagnosis.

Acknowledgment
The authors thank Anne Philips, former medical illustrator from the Department of Radiology at the University of Mich igan, for providing various illustrations used in this article.
References
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2. Barkovich AJ. Pediatric neuroradiology, 4th ed. Philadelphia, PA: Lippincott Williams & Wilkins, 2005:801868 3. Anderson FM. Occult spinal dysraphisms: diagnosis and management. J Pediatr 1968; 73:163178 4. Rossi A, Biancheri R, Cama A, Piatelli G, Ravegnani M, Tortori-Donati P. Imaging in spine and spinal cord malformations. Eur J Radiol 2004; 50:177200 5. Parmar H, Shah J, Patkar D, Maheshwari M. Diastematomyelia and terminal myelocystocele arising from one hemicord: case report. Clin Imaging 2003; 27:4143 6. Naidich TP, McLone DG, Mutleur S. A new understanding of dorsal dysraphism with lipoma (lipomyeloschisis): radiological evaluation and surgical correction. AJR 1983; 140:10651078 7. Lee KS, Gower DJ, McWhorter JM, Albertson DA. The role of MR imaging in the diagnosis and treatment of anterior sacral meningocele: report of 2 cases. J Neurosurg 1988; 69:628631 8. McLone DG, Niadich TP. Terminal myelocystocele. Neurosurgery 1985; 16:3643 9. Peacock WJ, Murovic JA. Magnetic resonance imaging in myelocystoceles: report of two cases. J Neurosurg 1989; 70:804807 10. Brown E, Matthes JC, Bazan C III, Jinkins JR. Prevalence of incidental intraspinal lipoma of the lumbosacral spine as determined by MRI. Spine 1994; 19:833836 11. Guiffr R. Intradural spinal lipomas: review of the literature (99 cases) and report of an additional case. Acta Neurochir (Wien) 1966; 14:6995 12. Coleman LT, Zimmerman RA, Rorke LB. Ventriculus terminalis of the conus medullaris: MR findings in children. AJNR 1995; 16:14211426 13. Scotti G, Harwood-Nash DC, Hoffman HJ. Congenital thoracic dermal sinuses: diagnosis by computer-assisted metrizamide myelography. J Comput Assist Tomogr 1980; 4:675677 14. Harris CP, Dias MS, Brockmeyer DL, Townsend JJ, Willis BK, Apfelbaum RI. Neurenteric cysts of the posterior fossa: recognition, management and embryogenesis. Neurosurgery 1991; 29:893897 15. Pang D, Dias MS, Ahab-Barmada M. Split cord malformation. Part I. A unified theory of embryogenesis for double spinal cord malformations. Neurosurgery 1992; 31:451480 16. Schijman E. Split spinal cord malformations: report of 22 cases and review of the literature. Childs Nerv Syst 2003; 19:96103 17. Nievelstein RAJ, Valk J, Smit LME, Vermeji-Keers C. MR of the caudal regression syndrome: embryologic implications. AJNR 1994; 15:10211029 18. Tortori-Donati P, Fondelli M, Rossi A, Raybaud C, Cama A, Capra V. Segmental spinal dysgenesis: neuroradiologic findings with clinical and embryologic correlation. AJNR 1999; 20:445456

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APPENDIX 1: Summary of Spinal Dysraphisms

Open Spinal Dysraphisms: not covered by intact skin

Myelocele Myelomeningocele Hemimyelocele Hemimyelomeningocele Neural placode flush with skin surface Neural placode protrudes above skin surface Myelocele associated with diastematomyelia Myelomeningocele associated with diastematomyelia

Closed Spinal Dysraphisms: covered by intact skin

With a subcutaneous mass
Lipomyelocele Lipomyelomeningocele Meningocele Terminal myelocystocele Myelocystocele Placodelipoma interface within the spinal canal Placodelipoma interface outside of the spinal canal Herniation of CSF-filled sac lined by dura Terminal syrinx herniating into posterior meningocele Dilated central canal herniating through posterior spina bifida

Without a subcutaneous mass

Simple dysraphic states
Intradural lipoma Filar lipoma Tight filum terminale Persistent terminal ventricle Dermal sinus Lipoma within the dural sac Fibrolipomatous thickening of filum Hypertrophy and shortening of filum Persistent cavity within conus medullaris Epithelial lined fistula between neural tissue and skin surface Connection between bowel and skin surface More localized form of dorsal enteric fistula Separation of cord into two hemicords Total or partial agenesis of spinal column Various segmentation anomalies

Complex dysraphic states

Dorsal enteric fistula Neurenteric cyst Diastematomyelia Caudal agenesis Segmental spinal dysgenesis

F O R YO U R I N F O R M AT I O N

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