AJR Integrative Imaging

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Congenital Spine and Spinal Cord Malformations—

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

Objective posed to the environment. In a closed spinal dysraphism,

Congenital abnormalities of the spine and spinal cord are the neural tissue is covered by skin. Closed spinal dysra­
referred to as spinal dysraphisms. This article reviews nor­ phisms can be further subcategorized on the basis of the
mal embryological development of the spine and spinal presence or absence of a subcutaneous mass [4]. Appendix
cord and the imaging findings of congenital abnormalities 1 summarizes the key features of open and closed spinal
of the spine and spinal cord with particular focus on MRI. dysraphisms.

Conclusion Open Spinal Dysraphisms

Knowledge of the normal development of the spine and Myelomeningocele and myelocele—Myelomeningoceles and
spinal cord provides a framework for understanding these myeloceles are caused by defective closure of the primary
complex entities. neural tube and are characterized clinically by exposure of
the neural placode through a midline skin defect on the
Spinal Cord Development back. Myelomeningoceles account for more than 98% of
American Journal of Roentgenology 2010.194:S26-S37.

Spinal development can be summarized in three basic open spinal dysraphisms [1]. Myeloceles are rare. Open spi­
embryologic stages [1, 2]. The first stage is gastrulation and nal dysraphisms are often diagnosed clinically, so imaging is
occurs during the second or third week of embryonic devel­ not always performed. When imaging is performed, the
opment. Gastrulation involves conversion of the embryonic main differentiating feature between a myelomeningocele
disk from a bilaminar disk to a trilaminar disk composed of and myelocele is the position of the neural placode relative
ectoderm, mesoderm, and endoderm. The second stage in to the skin surface [2]. The neural placode protrudes above
spinal development is primary neurulation (weeks 3–4) in the skin surface with a myelomeningocele (Fig. 2) and is
which the notochord and overlying ectoderm interact to flush with the skin surface with a myelocele (Fig. 3).
form the neural plate. The neural plate bends and folds to Hemimyelomeningocele and hemimyelocele—Hemimy­
form the neural tube, which then closes bidirectionally in a elomeningoceles and hemimyeloceles can also occur but are
zipperlike manner (Fig. 1). The final stage of spinal devel­ extremely rare [5]. These conditions occur when a myelo­
opment is secondary neurulation (weeks 5–6). During this meningocele or myelocele is associated with diastematomy­
stage, a secondary neural tube is formed by the caudal cell elia (cord splitting) and one hemicord fails to neurulate.
mass. The secondary neural tube is initially solid and subse­
quently undergoes cavitation, eventually forming the tip of Closed Spinal Dysraphisms With a Subcutaneous Mass
the conus medullaris and filum terminale by a process called Lipomas with a dural defect—Lipomas with a dural defect
retrogressive differentiation. Abnormalities in any of these include both lipomyeloceles and lipomyelomeningoceles.
steps can lead to spine or spinal cord malformations. These abnormalities result from a defect in primary neuru­
lation whereby mesenchymal tissue enters the neural tube
Categorization of Spinal Dysraphisms and forms lipomatous tissue [6]. Lipomyeloceles and lipo­
Spinal dysraphisms can be broadly categorized into open myelomeningoceles are characterized clinically by the pres­
and closed types [1–3]. In an open spinal dysraphism, there ence of a subcutaneous fatty mass above the intergluteal
is a defect in the overlying skin, and the neural tissue is ex­ crease. The main differentiating feature between a lipomy­

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 ([email protected]).
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.
AJR 2010;194:S26–S37 0361–803X/10/1943–S26 © American Roentgen Ray Society

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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
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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 Meningocele—Herniation of a CSF-filled sac lined by
placode–lipoma interface [4]. With a lipomyelocele, the pla­ dura and arachnoid mater is referred to as a meningocele.
code–lipoma interface lies within the spinal canal (Fig. 4). The spinal cord is not located within a meningocele but may
With a lipomyelomeningocele, the placode–lipoma interface be tethered to the neck of the CSF-filled sac. Posterior
lies outside of the spinal canal due to expansion of the sub­ meningoceles herniate through a posterior spina bifida (os­
arachnoid space (Fig. 5). seous defect of posterior spinal elements) and are usually

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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
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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 posterior spinal defect is referred to as a terminal myelocys­
cipital and cervical regions (Fig. 6). Anterior meningoceles tocele [2] (Fig. 8). The terminal syrinx component communi­
are usually presacral in location but also can occur else­ cates with the central canal, and the meningocele component
where [7] (Fig. 7). communicates with the subarachnoid space. The terminal
Terminal myelocystocele—Herniation of large terminal syrinx and meningocele components do not usually commu­
syrinx (syringocele) into a posterior meningocele through a nicate with each other [8].

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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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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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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).
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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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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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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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