AJR Integrative Imaging
LIFELONG LEARNING
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.
Conclusion
Knowledge of the normal development of the spine and
spinal cord provides a framework for understanding these
complex entities.
Spinal Cord Development
American Journal of Roentgenology 2010.194:S26-S37.
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 3–4) 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 5–6). 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 [1–3]. 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.
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).
1
2
Department of Radiology, University of Michigan Hospital, Ann Arbor, MI.
3
Department of Pediatric Neuroradiology, The Hospital for Sick Children, Toronto, ON, Canada.
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FOR RADIOLOGY
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 myelocele—Myelomeningoceles 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 hemimyelocele—Hemimy­
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 defect—Lipomas 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
 Congenital Spine and Spinal Cord Malformations

Fig. 1—Illustrations of primary neurulation.

A–D, 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.

A B

C D
American Journal of Roentgenology 2010.194:S26-S37.

A B C
Fig. 2—Myelomeningocele.
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
placode–lipoma interface [4]. With a lipomyelocele, the pla­
code–lipoma interface lies within the spinal canal (Fig. 4).
With a lipomyelomeningocele, the placode–lipoma interface
lies outside of the spinal canal due to expansion of the sub­
arachnoid space (Fig. 5).
Meningocele—Herniation 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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 Rufener et al.

Fig. 3—Myelocele.
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.

A B
American Journal of Roentgenology 2010.194:S26-S37.

A B C
Fig. 4—Lipomyelocele.
A, Axial schematic of lipomyelocele shows placode–lipoma interface (arrow) lies within spinal canal.
B, Axial T2-weighted MR image in 3-year-old girl shows placode–lipoma 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 placode–lipoma interface (white arrow) within
spinal canal.

Fig. 5—Lipomyelomeningocele.
A, Axial schematic of lipomyelomeningocele shows
placode–lipoma 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
placode–lipoma interface outside of spinal canal due
to expansion of subarachnoid space.
A B

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

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 myelocystocele—Herniation 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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 Rufener et al.
American Journal of Roentgenology 2010.194:S26-S37.

A B C
Fig. 8—Terminal 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).

Myelocystocele—A nonterminal myelocystocele occurs tion causes tethering of the spinal cord and impaired ascent
when a dilated central canal herniates through a posterior of the conus medullaris. The conus medullaris is low lying
spina bifida defect (Fig. 9). Myelocystoceles are covered relative to its normal position, which is usually above the
with skin and can occur anywhere but are most commonly L2–L3 disk level [2].
seen in the cervical or cervicothoracic regions [9]. Persistence of a small, ependymal lined cavity within
the conus medullaris is referred to as a persistent terminal
Closed Spinal Dysraphisms Without a Subcutaneous Mass ventricle (Fig. 13). Key imaging features include location
Closed spinal dysraphisms without a subcutaneous mass immediately above the filum terminale and lack of con­
can be subcategorized into simple and complex dysraphic trast enhancement, which differentiate this entity from
states. other cystic lesions of the conus medullaris [12].
Simple dysraphic states—Simple 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 tethered-cord syndrome, a clinical syn­
drome of progressive neurologic abnormalities in the setting
of traction on a low-lying 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 T1-weighted MR
images within a thickened filum terminale (Fig. 11). Filar
Fig. 9—Schematic
lipomas can be considered a normal variant if there is no of nonterminal
clinical evidence of tethered-cord syndrome [10, 11]. myelocystocele shows
herniation of dilated
Tight filum terminale is characterized by hypertrophy central canal through
and shortening of the filum terminale (Fig. 12). This condi­ posterior spinal defect.

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 Congenital Spine and Spinal Cord Malformations

Fig. 10—Intradural lipoma.

A and B, Sagittal T1-weighted (A) and sagittal T2-
weighted 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.
American Journal of Roentgenology 2010.194:S26-S37.

A B

Fig. 11—Filar 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.
A B

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 Rufener et al.

A dermal sinus is an epithelial lined fistula that connects tubes separated by an osseous or cartilaginous septum (Fig.
neural tissue or meninges to the skin surface. It occurs most 16). In type 2, there is a single dural tube containing two hemi­
frequently in the lumbosacral region and is often associated cords, sometimes with an intervening fibrous septum [15] (Fig.
with a spinal dermoid at the level of the cauda equina or co­ 17). Diastematomyelia can present clinically with scoliosis and
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 Fig. 12—Sagittal T2-
weighted MR image
cal repair is of great importance because the fistulous con­ in 12-month-old boy
nection between neural tissue and the skin surface can result shows tight filum
in infectious complications such as meningitis and abscess. terminale, characterized
by thickening and
Complex dysraphic states—Complex dysraphic states can shortening of filum
be divided into two categories: disorders of midline noto­ terminale (black arrow)
with low-lying conus
chordal integration, which include dorsal enteric fistula, medullaris. Incidental
neurenteric cyst, and diastematomyelia, and disorders of cross-fused renal ectopia
(white arrow) is also
notochordal formation, which include caudal agenesis and present.
segmental spinal dysgenesis.
Disorders of midline notochordal integration: Dorsal enteric
fistula and neurenteric cyst—A dorsal enteric fistula occurs
when there is an abnormal connection between the skin sur­
face and bowel. Neurenteric cysts represent a more local­
American Journal of Roentgenology 2010.194:S26-S37.

ized form of dorsal enteric fistula (Fig. 15). These cysts are
lined with mucin-secreting epithelium similar to the gastro­
intestinal tract and are typically located in the cervicotho­
racic spine anterior to the spinal cord [14].
Diastematomyelia—Separation 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

Fig. 13—Persistent 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.
A B

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A B C
Fig. 14—Dermal 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).
American Journal of Roentgenology 2010.194:S26-S37.

C, Axial T2-weighted MR image from same patient as in B shows posterior location of hyperintense dermoid (arrow).

A B C
Fig. 15—Neurenteric 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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 Rufener et al.
American Journal of Roentgenology 2010.194:S26-S37.

A B C
Fig. 16—Type 1 diastematomyelia.
A–C, 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.

A B C
Fig. 17—Type 2 diastematomyelia.
A–C, 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. 18—Caudal agenesis.

A and B, Sagittal T2-weighted (A) and sagittal T1-
weighted (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.
American Journal of Roentgenology 2010.194:S26-S37.

A B

Fig. 19—Vertebral 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.
A B

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 Rufener et al.
tethered-cord syndrome. A hairy tuft on the patient’s back
can be a distinctive finding on physical examination [16].
Disorders of notochordal formation: Caudal agenesis—Cau­
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 dysgenesis—The clinical–radiologic 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. Three-dimensional CT re­
constructions can be helpful in showing various vertebral
segmentation anomalies [18] (Fig. 19).
American Journal of Roentgenology 2010.194:S26-S37.
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.
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 Congenital Spine and Spinal Cord Malformations

APPENDIX 1: Summary of Spinal Dysraphisms

Open Spinal Dysraphisms: not covered by intact skin

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

Closed Spinal Dysraphisms: covered by intact skin

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

Without a subcutaneous mass

Simple dysraphic states
American Journal of Roentgenology 2010.194:S26-S37.

Intradural lipoma Lipoma within the dural sac

Filar lipoma Fibrolipomatous thickening of filum
Tight filum terminale Hypertrophy and shortening of filum
Persistent terminal ventricle Persistent cavity within conus medullaris
Dermal sinus Epithelial lined fistula between neural tissue and skin surface
Complex dysraphic states
Dorsal enteric fistula Connection between bowel and skin surface
Neurenteric cyst More localized form of dorsal enteric fistula
Diastematomyelia Separation of cord into two hemicords
Caudal agenesis Total or partial agenesis of spinal column
Segmental spinal dysgenesis Various segmentation anomalies

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