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559

NEURORADIOLOGY
A Practical Approach to Diagnosis
of Spinal Dysraphism
Bárbara Trapp, MD
Tomás de Andrade Lourenção Freddi, Spinal dysraphisms (SDs) are congenital malformations of the spi-
 MD nal cord, determined by derangement in the complex cascade of
Monique de Oliveira Morais Hans, MD embryologic events involved in spinal development. They represent
Isadora Fonseca Teixeira Lemos Calixto, a heterogeneous group ranging from mild clinical manifestations—
 MD going unnoticed or being discovered at clinical examination—to a
Emi Fujino, MD causal factor of life quality impairment, especially when associated
Laila Cristina Alves Rojas, MD with musculoskeletal, gastrointestinal, genitourinary, or respiratory
Stênio Burlin, MD system malformations. Knowledge of the normal embryologic de-
Danilo Manuel Cerqueira Costa, MD, velopment of the spinal cord—which encompasses three main steps
 MSc
(gastrulation, primary neurulation, and secondary neurulation)—is
Henrique Carrete Junior, MD, PhD
crucial for understanding the pathogenesis, neuroradiologic sce-
Nitamar Abdala, MD, PhD
Luís Antônio Tobaru Tibana, MD narios, and clinical-radiologic classification of congenital malforma-
Eduardo Takashi Takehara, MD tions of the spinal cord. SDs can be divided with clinical examina-
Gustavo Dalul Gomez, MD tion or neuroradiologic study into two major groups: open SDs and
closed SDs. Congenital malformations of the spinal cord include a
Abbreviations: CSF = cerebrospinal fluid, SD = wide range of abnormalities that vary considerably in imaging and
spinal dysraphism clinical characteristics and complexity and therefore may represent
RadioGraphics 2021; 41:559–575 a diagnostic challenge, even for the experienced radiologist.
https://doi.org/10.1148/rg.2021200103 Online supplemental material is available for this article.
Content Codes: ©
RSNA, 2021 • radiographics.rsna.org
From the Department of Diagnostic Imaging,
Division of Neuroradiology, Universidade Fed-
eral de São Paulo (UNIFESP), Rua Napoleão
de Barros 800, São Paulo SP 04024-002, Brazil
(B.T., M.d.O.M.H., I.F.T.L.C., E.F., L.C.A.R.,
S.B., D.M.C.C., H.C.J., N.A., L.A.T.T., E.T.T., SA-CME LEARNING OBJECTIVES
G.D.G.); Department of Diagnostic Imaging,
After completing this journal-based SA-CME activity, participants will be able to:
Division of Neuroradiology, Hospital do Cora-
ção (HCor), São Paulo, Brazil (T.d.A.L.F.); and Understand the embryologic steps of normal spine development and describe the
„
Department of Diagnostic Imaging, Division of main embryologic derangements that lead to each type of SD.
Neuroradiology, Fundação Instituto de Pesquisa
Discuss the proper radiologic classification of each SD.
„
e Estudo de Diagnóstico por Imagem (FIDI),
São Paulo, Brazil (B.T., M.d.O.M.H., I.F.T.L.C., Recognize the main MRI findings that constitute and differentiate each group of
„
L.C.A.R., S.B., L.A.T.T.). Presented as an edu- congenital malformations of the spinal cord.
cation exhibit at the 2019 RSNA Annual Meet-
ing. Received May 1, 2020; revision requested See rsna.org/learning-center-rg.
June 18 and received July 12; accepted July 27.
For this journal-based SA-CME activity, the au-
thors, editor, and reviewers have disclosed no rel-
evant relationships. Address correspondence
to G.D.G. (e-mail: [email protected]). Introduction
©
RSNA, 2021
Congenital malformations of the spine and spinal cord are generally
described under the umbrella term spinal dysraphisms (SDs). The etymo-
logic origin of the term dysraphism is from the Greek words dys (bad)
and rhaphḗ (suture); therefore, it should be applied only to primary
neurulation abnormalities. However, in medical practice, it is used to
describe a diverse group of abnormalities of spinal cord development
that occur between the 2nd and 6th gestational weeks and show incom-
plete midline closure of mesenchymal, osseous, and nervous tissue (1).
Neural tube defects are the second most common type of birth
anomaly after congenital heart disease (2). SDs are a subtype of neural
tube defects, with an estimated prevalence of about one to three per
1000 live births (3). The lumbosacral spine is the most common site,
involved in 90% of cases, followed by the thoracic spine (6%–8%) and
cervical spine (2%–4%) (4). Antenatal care and maternal nutrition
560  March-April 2021 radiographics.rsna.org

diagnosis of these conditions. Early detection of

TEACHING POINTS SD is related to better outcome, since it allows
„ Neuroimaging plays a critical role in diagnosis, detection of
parent counseling and appropriate treatment
associated malformations, therapeutic planning, and postop-
erative evaluation of SDs. In general, SDs are best characterized
decisions, minimizing the morbidity inherent to
with MRI, since it provides excellent spatial resolution and in- these malformations.
creased tissue contrast and does not involve ionizing radiation.
„ According to the clinical-radiologic classification, SDs are cat- Etiology
egorized into two major groups: open SDs and closed SDs, SDs are a group of developmental disorders with
depending on whether there is a skin defect overlying the ab- multifactorial etiology, comprising genetic, envi-
normality. In open SDs, there is direct exposure of the neural
ronmental, and nutritional components (6,7).
tissue and meninges to the external environment. In closed
SDs, the neural and meningeal tissues are covered by skin or Genetic factors are probably among the most
subcutaneous tissue; therefore, there is no exposure of the important contributing to spine developmen-
placode. tal errors. However, despite major advances in
„ Myelomeningocele is a neurosurgical emergency—like all neurogenetics over the past 10 years, little is still
open SDs—and represents the most common form of open known of normal and abnormal spinal develop-
SD, accounting for more than 98% of cases. It has a preva- ment. Most published studies were based on
lence of approximately 0.6–1.0 per 1000 live births, and fe-
males are affected slightly more often than males.
small case series and do not show statistically
„ Lipomas with dural defect (LDDs) constitute a continuum of
significant results in humans (1,7). Variations in
abnormalities (lipomye­ lomeningocele, lipomyelocele, and some specific genes have been related to develop-
lipomyelo­schisis) that share a common pathophysiologic pro- ment of SD, such as MTHFR, MTHFD1, MTRR,
cess. They differ from each other by the position of the cord- VANGL1, VANGL2, CELSR1, and FUZ, as well
lipoma interface, which is important information for the surgi- as variants in the T locus on chromosome 6q (2).
cal approach. Together, these anomalies represent 75.9% of
Genes encoding proteins that participate in fo-
all spinal lipomas and 16.4% of all closed SDs.
late one-carbon metabolism have been broadly in-
„ Differentiation between the two types of diastematomyelia
depends on development of primitive streak tissue. In type
vestigated, owing to the potential role of folic acid
I, the intervening primitive streak develops into bone or car- in preventing SD. The methylene­tetrahydrofolate
tilage, creating a septum (radiologic mark) that separates the reductase (MTHFR) gene is the most studied, and
dural sac in two. In type II, the primitive streak is reabsorbed its C677T variant is the most accepted genetic
or forms a fibrous septum, with a single dural sac involving factor linked to human SD; however, this associa-
both hemicords.
tion is seen only in certain populations (non-His-
panic origin) (8). Currently, there are no reliable
genes or genetic counseling available for detecting
play a central role in adequate fetal spine develop- human SD; thus, larger controlled studies are nec-
ment; thus, the worldwide prevalence of SD may essary to demonstrate this relationship.
vary depending on the socioeconomic conditions Periconception environmental factors—includ-
in each country. ing maternal obesity, poor nutrition, tobacco
As a result of the close embryologic relation- exposure, hyperhomocysteinemia, sedentarism,
ship between the caudal cell mass—which origi- and mental stress—play a central role in this pro-
nates in the lumbosacral spine—and the cloaca, cess, given its relation to excessive oxidative stress
spinal malformations caused by secondary neuru- and inflammation, which accelerate maternal
lation failures are frequently found in association biologic aging through faster telomere shortening
with anorectal or urogenital anomalies (1,5). Fur- (6). There is evidence of higher incidence of SD
thermore, as the notochord has an important role in embryonic mice with shorter telomeres, and
in formation of the neural tube, as well as tho- some authors have hypothesized that this theory
racic and abdominal viscera, these patients often could be extrapolated to humans (6).
have anomalies of the upper gastrointestinal tract One of the most notable environmental factors
or respiratory tract (1). Ultimately, systemic con- implicated in the occurrence of SD is periconcep-
ditions manifesting with vertebral anomalies— tion maternal nutrition, which is closely related
such as VACTERL (vertebral, anorectal, cardiac, to the socioeconomic condition of the patient. In
tracheal, esophageal, renal, and limb anomalies) this scenario, folic acid deficiency is one of the
syndrome or Klippel-Feil syndrome—should be most remarkable factors (9). Some authors have
investigated for spinal cord malformations, given suggested that folic acid may play a central role
that vertebral column formation is closely influ- in preventing SD. It is a natural antioxidant and
enced by many of the same factors that influence in high doses can correct defects in homocysteine
development of the spinal cord (1). metabolism (10,11).
Detailed knowledge of spinal cord embryology A European meta-analysis suggested that folic
and the key imaging findings of SDs is essential acid supplementation with 4 mg daily should
for the radiologist, who plays a critical role in be initiated 5–6 months before conception (10).
RG  •  Volume 41  Number 2 Trapp et al  561

This prophylactic scheme leads to optimal red the center and the two neural folds (one on each
blood cell folate levels and reduces the risk of SD side) are formed when the neural plate attaches
occurrence in the offspring (10). Other nutrient to the notochord and starts bending, at the level
deficiencies that may be involved in this process of the ventral hinge point.
include inositol, vitamin B12, choline, retinoic acid, The neural folds progressively increase in size
and iron (12). and flex to approach each other, until they eventu-
ally fuse in the midline to form the neural tube. It
Normal Embryology of Spinal Cord then closes bidirectionally in a zipperlike man-
Development of the spine and spinal cord is a ner, starting at the rhombencephalon and pro-
highly coordinated and complex process con- ceeding both cephalically and caudally. With the
sisting of several consecutive steps that can be detachment on both sides of the neuroectoderm,
summarized in three basic embryologic stages: the cutaneous ectoderm seals the overlying skin
gastrulation, primary neurulation, and secondary (3,13,14,16) (Fig 2).
neurulation.
Secondary Neurulation
Gastrulation Secondary neurulation—the last embryologic
Gastrulation is defined by transformation of the step—begins at the end of primary neurulation
bilaminar embryonic disk into a trilaminar embry- and occurs during weeks 5 and 6 of gestation
onic disk through addition of a third interposed (13,15). At this stage, an additional part of the
layer—the mesoderm (3,13,14). At this stage, the neural tube is formed caudal to the primary neural
notochord also forms. Its formation begins be- tube. A solid mass of totipotential cells forms the
tween the 2nd and 3rd gestational weeks and ends tail bud, which subsequently undergoes internal
in the middle of the 3rd gestational week (13,15). cavitation. This forms the secondary neural tube.
In the initial process of gastrulation, the embryo The secondary neural tube merges with the
is formed by a bilaminar embryonic disk. This is a cranial neural tube, which was formed by primary
flat almost circular disk, composed of two distinct neurulation, giving rise to a continuous structure
cell layers: the epiblast and hypoblast. The thick- (Fig 3) (13,16). Then, through a process called
est layer is formed by the epiblast (also known as retrogressive differentiation, the tail bud regresses
primitive ectoderm), which consists of tall colum- to form the tip of the conus medullaris and the
nar cells related to the amniotic cavity. The hypo- filum terminale (3,14–16). Abnormalities in any
blast forms another layer, thinner and consisting of these steps can lead to spine or spinal cord
of small cuboidal cells adjacent to the exocoelomic malformations.
cavity (yolk sac) (3).
The cells of the epiblast migrate ventrally and Role of Neuroimaging in Diagnosis
extend along the disk for about half its length to of SDs
form the primitive streak. At one end of the primi- Neuroimaging plays a critical role in diagnosis,
tive streak, a nodular rapidly proliferating group detection of associated malformations, therapeutic
of cells known as the primitive node of Hensen planning, and postoperative evaluation of SDs.
is formed, which defines the cephalic end of the In general, SDs are best characterized with MRI,
embryo (3,13,14,16). At this point, cells migrate since it provides excellent spatial resolution and
through a primitive pit between the epiblast and increased tissue contrast and does not involve ion-
hypoblast and displace the hypoblast caudally izing radiation. In this scenario, imaging at high
to form the endoderm (3,13–16). Continuous field strength of 1.5 T or greater is preferred.
waves of migrating cells travel bilaterally above the A targeted MRI protocol is essential for optimal
endoderm to form the mesoderm. The notochord visualization of SDs, correct vertebral number-
is formed from mesoderm cells that migrate along ing, and depiction of associated malformations.
the midline to form this malleable rod-shaped It should always include at least high-resolution
structure along the embryonic craniocaudal axis sagittal T1- and T2-weighted images of the whole
(Fig 1) (3,13,15,16). spine and one panoramic coronal sequence (3).
Dedicated axial T1- and T2-weighted images of
Primary Neurulation the specific region of interest using section thick-
Primary neurulation extends during weeks 3 and ness of 3.0 mm or less are also recommended (3).
4 of gestation (13,15), starting with formation In addition, high-resolution heavily T2-
of the neural plaque in the ectoderm and ending weighted images can enrich evaluation of SD, as
with closure of the neural tube in the mesoderm. they provide higher spatial resolution (3). How-
The notochord induces formation of the neural ever, this sequence requires patient cooperation,
plate in the dorsal midline of the ectoderm, ce- which is hampered by the age group involved and
phalic to the Hensen node. The neural groove in associated poor health conditions. In situations
562  March-April 2021 radiographics.rsna.org

Figure 1.  Gastrulation. (a) Bilaminar embryonic disk (blue dashed oval) composed of layers of the
­hypoblast (yellow cells)—with edges facing the yolk sac—and the ectoblast (blue cells), with edges
facing the amniotic sac. (b) Cells (purple cells) migrate through a primitive pit (arrow) between the
epiblast (blue cells) and hypoblast (yellow cells) and displace the hypoblast caudally to form the endo-
derm. (c) Continuous waves of migrating cells travel bilaterally above the endoderm to form the meso­
derm (arrow) and notochord (arrowhead), which is formed from mesoderm cells. Now the embryo is
composed of a trilaminar disk and has the notochord fully formed.

Figure 2. Primary neurulation.

(a) The notochord (arrowhead) in-
duces formation of the neural plate
(blue cells) in the dorsal midline
of the ectoderm. (b) The neural
groove in the center (arrow) and
the two neural folds (one on each
side) (arrowheads) are formed and
start bending. (c) The neural folds
progressively increase in size and
flex to approach each other, until
they fuse in the midline (arrow).
(d) The neuroectoderm detaches
on both sides from the cutaneous
ectoderm, forming the neural tube
(arrow) in the mesoderm, which
then closes bidirectionally in a zip-
perlike manner. Then, the cutane-
ous ectoderm seals the overlying
skin (arrowhead).

where MRI is essential but patient cooperation the neonatal period, when the degree of spinal
is lacking, use of sedation may be necessary to ossification is still incomplete, facilitating passage
obtain adequate images (3). of sound waves and allowing better definition of
Other imaging methods usually play a second- neurologic structures. Furthermore, US does not
ary role in evaluation of SD. US is often used in involve exposure to ionizing radiation and enables
RG  •  Volume 41  Number 2 Trapp et al  563

Figure 3.  Secondary neurulation. (a) A solid mass of totipotential cells (arrow) forms the tail bud. (b) The tail bud cavitates internally
(central white line), forming the secondary neural tube, which merges cranially (arrow) with the neural tube, previously formed by
primary neurulation. (c) Therefore, this merger gives rise to a continuous and centrally cavitated structure.

Figure 4.  Clinical-radiologic clas-

sification of SDs.

assessment of associated malformations, such as be further classified as simple dysraphic states

genitourinary anomalies. However, it is not indi- (eg, persistent terminal ventricle) and complex
cated for evaluating open SDs in the postnatal pe- dysraphic states (eg, diastematomyelia and caudal
riod owing to patient predisposition to infections. regression syndrome [CRS]) (1,19–21).
CT has a limited role in evaluation of SD given In addition to the clinical-radiologic approach,
its low sensitivity, poor tissue contrast, and expo- neuroradiologists must have knowledge of spinal
sure to ionizing radiation. It should be used only embryology to make a precise diagnosis. Embryo-
in selected cases, such as in severe bone anomalies logic classifications (Table 1) are primarily based
(3) or when patient sedation is impossible. on correlation of imaging findings with the cor-
responding derangement in the complex cascade
Classification of SDs of embryologic events (18).
The most used classification of SDs involves a
practical approach using a combination of clinical Open SDs
and radiologic factors, which help restrict the
scope of the differential diagnosis (17). Accord- Myelomeningocele
ing to the clinical-radiologic classification (Fig 4), Myelomeningocele is clinically and radiologi-
SDs are categorized into two major groups: open cally defined by two main characteristics: (a) ex-
SDs and closed SDs, depending on whether there posure of the neural placode to the environment
is a skin defect overlying the abnormality. In open with (b) expansion of the underlying subarach-
SDs, there is direct exposure of the neural tissue noid space. Both protrude through the spina bi-
and meninges to the external environment. fida, with elevation of the placode above the skin
In closed SDs, the neural and meningeal tis- surface by expansion of the subarachnoid space
sues are covered by skin or subcutaneous tissue; in the midline of the back (Fig 5) (1,3,17).
therefore, there is no exposure of the placode Myelomeningocele is a neurosurgical emer-
(18). Closed SDs are subdivided into two groups: gency—like all open SDs—and represents the
those with a subcutaneous mass (eg, lipomas with most common form of open SD, accounting
a dorsal defect and meningocele) and those with- for more than 98% of cases. It has a prevalence
out a subcutaneous mass (eg, intradural lipoma). of approximately 0.6–1.0 per 1000 live births
Closed SDs lacking a subcutaneous mass can (1,3,17), and females are affected slightly more
564  March-April 2021 radiographics.rsna.org

Table 1: Embryologic Classification of SDs

Step of Embryologic Derangement Resultant Abnormalities

Gastrulation (2–3 weeks gestation) Diastematomyelia,* caudal regression syndrome,† segmental spinal dysgenesis
Primary neurulation (3–4 weeks Myelomeningocele, myelocele/myeloschisis, hemimyelomeningocele, nonter-
gestation) minal myelocystocele, meningocele, lipomyelomeningocele, lipomyelocele/
lipomyeloschisis, intradural lipoma, dermal sinus, limited dorsal myeloschisis
Secondary neurulation (4–6 weeks Terminal myelocystocele, persistent terminal ventricle, filar cyst, tight filum
gestation) terminale, filum terminale lipoma, persistent secondary neural tube
*Disorder of midline notochordal integration.
†
Disorder of notochordal formation.

often than males (1). The lower lumbar and up- Since the lumbosacral segment is the most af-
per sacral regions are the most frequently com- fected, the clinical picture usually includes deficits
promised segments, corresponding to approxi- of the lower extremities, paraplegia, bowel and
mately 80%–98% of cases. Myelomeningocele is bladder incontinence, sexual dysfunction, skeletal
rare in the cervical and upper thoracic spine. deformities, hindbrain dysfunction, and intellec-
Fortunately, there is a reduction in myelo­ tual and psychological disturbances (1,3,17).
meningocele cases owing to a supplemental diet of It is rare to perform MRI in newborns with
folic acid before and during pregnancy. Incredible open SD because the diagnosis is usually made
advances in corrective intrauterine surgery have with obstetric US and confirmed with visual in-
further reduced the degree of neurologic injury. spection postnatally. Thereafter, fetal MRI is the
There are two main theories regarding the em- modality of choice for evaluating these patients,
bryologic pathophysiology of open SD: one is rep- as it has higher spatial and contrast resolution.
resented by a primary failure to close the neural To best accomplish evaluation of the fetal central
tube, while the other supports the reopening of the nervous system, it is recommended to perform
already closed neural tube (13). The first theory, MRI after the 20th gestational week. Fetal MRI
which encompasses the defect in primary neu- of untreated mye­lomeningocele shows disconti-
rulation, is probably more appropriate to explain nuity of skin and subcutaneous tissue (subcuta-
an open spinal cord defect in humans (1,3,17). neous fat, fascia, muscle, and bone), a placode
A segment of neural plate remains frozen in its exposed to the environment, and an expanded
primordial stage, not evolving to formation of the and herniated cerebrospinal fluid (CSF) space
neural folds and neural groove, giving rise to the through the defect (meningocele). The spinal
placode (open neural tube). The unfused edges of cord entering the meningocele and anchor-
the adjacent cutaneous ectoderm remain attached ing to the placode may also be depicted (Fig 5)
to the nonneurulated neural plate segment and fail (1,3,17).
to form the future skin, explaining the resultant Postnatal MRI of untreated myelomeningocele
midline skin defect (1,3,14,17). may show the nerve roots that originate from the
The outer surface of the placode represents ventral surface of the placode and course anteri-
what would be the future spinal cord ependymal orly through the meningocele and into the dilated
surface and is directly visible at physical inspec- subarachnoid spaces of the spinal canal, going to
tion. The inner surface of the placode represents the neural foramina (1,3,17).
what would be the outer layer of the spinal cord
where nerve roots originate (1,17). Migration of Myelocele and Myeloschisis
the mesenchyme behind the neural tube is pre- Myelocele represents a rarer form of open SD
vented owing to a failure to separate the neuroec- in which the placode is exposed to the envi­
toderm from the adjacent ectoderm, causing a de- ronment through a spina bifida, like in myelo-
fect in the musculoskeletal structures (13,22,23). meningocele, but without posterior expansion of
The neurologic deficit in open SD is explained the subarachnoid space (meningocele) (1,3,17).
by the malformation itself and by the exposure The embryology and clinical aspects, includ-
of the nonneurulated neural tissue (placode) to ing the association with Chiari II malformation,
the environment, suffering physical trauma and are equivalent to those of myelomeningocele
chemical injury due to the abrasive effect of the (1,3,13,14,16,17,23,24).
amniotic fluid (1,3,17). The clinical spectrum The MRI findings are similar to those de-
depends on the spinal cord segment involved and scribed in myelomeningocele, but without the
the extent and severity of damage to the placode. meningocele. There is discontinuity of skin and
RG  •  Volume 41  Number 2 Trapp et al  565

Figure 5.  Myelomeningocele with Chiari II malformation. (a, b) Sagittal (a) and axial oblique (b) single-shot fast
spin-echo T2-weighted MR images of the fetal central nervous system show discontinuity of skin and subcutaneous
tissue (arrowheads) in the lumbosacral region with herniation of nervous tissue through the spina bifida (thin arrows
in b), forming the placode, which is exposed to the amniotic fluid (thick arrow). There is expansion of the adjacent
subarachnoid space (*). Chiari II malformation is characterized by a small posterior fossa (dotted white circle in a), a
slitlike fourth ventricle (thin arrow in a), and herniation of the cerebellar tonsils or vermis through the foramen mag-
num (dotted white line in a). (c) Drawing shows discontinuity of skin and subcutaneous tissue (arrowheads), with the
placode exposed to the environment and elevated above the skin surface (thick arrow) by expansion of the underlying
subarachnoid space (meningocele) (*), both herniated through the spina bifida (thin arrows).

subcutaneous tissue, with the placode exposed to The neurologic impairment is similar to that
the environment and forming the posterior wall of seen in patients with diastematomyelia, which
the spina bifida. The placode is flush with the skin includes orthopedic problems such as foot mal-
surface (myelocele) or depressed (myeloschisis) position, leg weakness, low back pain, scoliosis,
because there is no expansion of the underlying and urinary or fecal incontinence. However, the
subarachnoid space. The affected spinal cord seg- symptoms are markedly asymmetric, usually
ment anchors in the ventral wall of the placode worse on the same side of the hemi–open SD (3).
(Fig 6). Nerve roots that originate from the ventral Hemimyelomeningocele will appear as the as-
surface of the placode course anteriorly through sociation at the same level of a diastematomyelia
the subarachnoid space of the spinal canal and go with a myelo(meningo)cele (Fig 7). A fibrous or
to the neural foramina (1,3,16,17,23,24). bony spur dividing the spinal canal may be seen.
When it is not seen, the two hemicords lie within
Hemimyelo(meningo)cele a single dural sac, and both could be nonneuru-
Hemi–open SD is an extremely rare condition, lated (failure in primary neurulation process).
defined as splitting of the spinal cord (diastema- At MRI, hemimyelomeningocele manifests as
tomyelia) in which one hemicord fails to neuru- splitting of the spinal cord at the same level of the
late (failure in primary neurulation process) and open SD, with discontinuity of skin and subcuta-
is therefore exposed to the environment. There neous tissue at the side of the hemiplacode that is
are two types of hemi–open SD: hemimyelo- exposed to the environment. It is also important
meningocele occurs when there is dorsal expan- to differentiate imaging features of hemimyelo-
sion of the subarachnoid space that elevates the meningocele and hemimyelocele through the
hemiplacode above the skin surface (Fig 7), and presence or absence, respectively, of the expan-
hemimyelocele occurs when the hemiplacode is sion of the subarachnoid space underlying the
flush with the skin surface (1,3,17,23). hemiplacode (1,3,16,17,23,24).
Embryologically, this dysraphism is related to
faulty gastrulation by failed midline notochordal Chiari II Malformation
integration, producing the split cord, with a su- Chiari II malformation is present in all open
perimposed error of primary neurulation of one SDs and can be considered a continuum of the
hemicord (13,14,21,22). malformation. The severity of the posterior fossa
566  March-April 2021 radiographics.rsna.org

Figure 6.  Myelocele with Chiari II malformation. (a, b) Sagittal (a) and axial (b) single-shot fast spin-echo T2-weighted images of
the fetal central nervous system show discontinuity of skin and subcutaneous tissue (* in a) in the lumbosacral region, with hernia-
tion of nervous tissue through the spina bifida (thin arrows in b), forming the placode. The placode is flat to the adjacent skin surface
(arrowheads in a, thick arrow in b) and exposed to the amniotic fluid, without expansion of the adjacent subarachnoid space. Chiari
II malformation is characterized by a small posterior fossa (dotted white circle in a), a slitlike fourth ventricle (thin arrow in a), and
herniation of the cerebellar tonsils or vermis through the foramen magnum (dotted white line in a), determining dilatation of the
supratentorial ventricular system (thick arrow in a). (c) Drawing shows discontinuity of skin and subcutaneous tissue (arrowhead),
with the placode (thick arrow) herniated through the spina bifida (thin arrows) and exposed to the environment, on the same plane
as the skin surface, without expansion of the underlying subarachnoid space (*).

Figure 7.  Hemimyelomeningocele. Drawing shows splitting of the spinal cord (arrow-
heads) at the same level of the open SD, with discontinuity of skin and subcutaneous tis-
sue (dotted arrows) at the side of the hemiplacode that is exposed to the environment
(solid arrow). There is a hemimeningocele (*) protruding posteriorly through the spina
bifida (open arrows), raising the placode above the adjacent skin surface.

malformation is variable and can be explained

by CSF leak through the SD in the amniotic
sac, promoting underdevelopment of the fourth
ventricle. The main imaging findings are small
posterior fossa, herniation of the brainstem and
cerebellar tonsils or vermis through the fora-
men magnum, dilatation of the supratentorial
ventricular system, callosal dysgenesis, and tectal
beaking (Figs 5, 6) (1,3,17,23,25).

Closed SDs with Subcutaneous Mass

Lipomas with Dural Defect

Lipomas with dural defect (LDDs) constitute
a continuum of abnormalities (lipomye­lo­ ration between the cutaneous ectoderm and the
meningocele, lipomyelocele, and lipomyelo­schisis) neuroectoderm. This allows intervening mesenchy-
that share a common pathophysiologic process. mal tissue into the neural tube and formation of a
They differ from each other by the position of the lipomatous mass, preventing successful neurulation.
cord-lipoma interface, which is important infor- LDDs are clinically characterized by the pres-
mation for the surgical approach. Together, these ence of a subcutaneous mass of adipose tissue
anomalies represent 75.9% of all spinal lipomas above the intergluteal crease, extending asym-
and 16.4% of all closed SDs (1,17). metrically into the buttock. Skin stigmas are found
The most accepted embryogenic theory involves in 50% of patients and may include hypertrichosis,
an error in primary neurulation, with early sepa- capillary hemangioma, dermal sinus tract (DST),
RG  •  Volume 41  Number 2 Trapp et al  567

or dimples (1,17). As these stigmas are easily bifida; meningoceles do not contain neural tissue,
depicted at birth, early surgical approaches are which explains the usually mild neurologic condi-
usually instituted, leading to a less pronounced de- tion. These cystic formations are covered by soft
gree of neurologic impairment. It is important to tissue and skin and may manifest with alterations,
remember that the fat component of LDDs may such as cutaneous dystrophy, hemangioma, or tail-
grow with age, according to the degree of body like protrusion (3,26). As the meningeal lining is
adipose tissue accumulation. formed late in the embryologic process, posterior
At MRI, LDD is depicted as an intradural congenital meningoceles probably occur at week 7
lipomatous mass attached to the spinal cord, of gestation (27). The exact embryogenic mecha-
configuring the cord-lipoma complex. It is impor- nism is uncertain, but it is believed that there is
tant to report the position and dimensions of the failure of separation between the meninx primitiva
cord-lipoma complex, as well as its relationship and cutaneous ectoderm, which herniate through
with other structures. SD can rarely coexist and be the posterior spina bifida, promoted by constant
associated with split cord malformations (diaste- CSF pulsation (3). Meningoceles correspond to
matomyelia) (18). approximately 10% of myelomeningoceles (28),
representing about 2.4% of all closed SDs (1,17).
Lipomyelomeningocele.—Lipomyelomeningocele At MRI, meningocele appears as an extraspi-
is characterized by the combination of a subcu- nal hernia of the meninges through a spina bifida
taneous lipoma with a posterior meningocele (3). and is filled only with CSF (Fig 10). Rarely, re-
MRI shows enlargement of the spinal canal with dundant nerve roots may be depicted within the
expansion of the subarachnoid space. The low- sac on high-resolution T2-weighted images, or a
lying spinal cord crosses into the meningocele and hypertrophic filum terminale may course within
attaches to a subcutaneous lipoma. The cord- the meningocele. The spinal cord is structurally
lipoma interface is located outside the vertebral normal (1,3,17).
canal and usually occurs off midline, with traction
of the placode toward the lipoma on one side and Myelocystocele
meningeal herniation on the other (Fig 8). Myelocystocele is defined as herniation of a hy-
The neural roots exhibit an aberrant course. drosyringomyelic cavity through the spina bifida
Those that emerge from the side where the menin- into a meningocele. Myelocystocele can occur at
gocele prevails tend to be long and more suscep- any level of the spine. It is classified as terminal
tible to trauma, while those that are close to the when located in the lumbosacral region or as
placode tend to be short and promote tethering of nonterminal when it occurs in the cervical or tho-
the spinal cord (1,17). racic segment (3,29,30).
The two subtypes differ in epidemiologic, em-
Lipomyelocele and Lipomyeloschisis.—These sub- bryologic, and clinical-radiologic aspects. Termi-
types of closed SD share similar imaging findings nal myelocystocele is more common, representing
and are characterized by a posterior neural arch approximately 5% of all closed SDs with a higher
defect (spina bifida), through which a lipomatous prevalence in females (31). Embryologically, ter-
subcutaneous mass penetrates the spinal canal and minal myelocystocele is generally seen as a defect
attaches to the tethered cord (3). The spinal canal in secondary neurulation. The cavity of the per-
can be expanded depending on the size of the li- sistent secondary neural tube inflates, promoting
poma, but there is no evidence of meningeal hernia- rupture of the surrounding mesenchymal tissue.
tion or expansion of the subarachnoid space. The Nonterminal myelocystocele occurs during
distinguishing factor between these two conditions primary neurulation owing to incomplete fusion
is the position of the cord-lipoma interface: at the of the neural tube, with failure of separation of
level of the neural arches (lipomyelocele) (Fig 9) or the ectoderm from the neuroectoderm. Forma-
within the spinal canal (lipomyeloschisis) (Fig E1). tion of the lining of the adjacent skin configures
Although lipomyeloschisis is more common a closed spinal malformation. Because of the fail-
than lipomyelocele, these terms are often used ure to separate of the two embryonic leaflets—ec-
interchangeably, since the two conditions are often toderm and neuroectoderm—there is formation
not clearly separable from one another. This is of a fibroneurovascular filament, which extends
a result of cord stretching and variable length of from the posterior wall of the spinal cord through
the cord-lipoma interface, which may extend over the meningocele and the opening of the dura
several vertebral levels (1,3,17). and adheres to abnormal skin. Continuous CSF
pulsation inflates the posterior wall of the medul-
Meningocele lary ependymal canal through the spina bifida
Meningocele is a CSF hernia delineated by a dural and meningocele, forming a hydrosyringomyelic
and arachnoid lining through a posterior spina cavity (3).
568  March-April 2021 radiographics.rsna.org

Figure 8.  Lipomyelomeningocele. (a, b) Axial T1-weighted (a) and T2-weighted (b) images of the lumbar spine
show the placode (dotted white circle) attached to a lipoma (dotted arrow), forming the cord-lipoma interface, which
is located outside the spinal canal owing to expansion of the underlying subarachnoid space (solid arrow), which pro-
trudes through the spina bifida (*). (c) Drawing shows the skin and subcutaneous tissue (arrowheads) covering the
placode (solid arrow), which is anchored to adipose tissue outside the vertebral canal and off midline owing to asym-
metric expansion of the underlying subarachnoid space (dashed arrows), both herniating through the spina bifida (*).

Figure 9.  Lipomyelocele. (a–c) Sagittal T1-weighted (a), sagittal fat-saturated T2-weighted (b), and axial T2-weighted (c) im-
ages of the lumbosacral spine show a lipomatous mass (solid arrow) insinuating into the spinal canal and communicating with the
subcutaneous region posteriorly (*). The placode-lipoma interface (dotted arrow) is located at the level of the neural arches, without
expansion of the subarachnoid space. (d) Drawing shows a skin-covered posterior arch defect (*) characterized by a subcutaneous
lipomatous mass (arrowheads), which penetrates the spinal canal through a posterior spina bifida and attaches to the placode (ar-
row). The cord-lipoma interface lies at the level of the neural arches, without expansion of the subarachnoid space.

MRI of terminal myelocystocele shows a low meningocele, with the anterior wall of the spinal
spinal cord ending in a large hydrosyringomyelic cord withheld in the vertebral canal (16,32).
cavity that herniates through the spina bifida
into a meningocele, anchoring in its posterior Closed SDs without Subcutaneous
wall. The terminal hydrosyringomyelic cavity is Mass
a continuation of the ependymal canal, while the
meningocele is an expansion and herniation of Simple Dysraphic States
the subarachnoid space. Thus, the CSF of the
syringomyelia does not usually communicate with Intradural Lipoma.—Intradural lipoma is a
the CSF of the meningocele (Fig 11). The OEIS benign elongated lesion composed of adipose
complex (omphalocele, exstrophy of the cloaca, cells contained within the dural sac, unlike
imperforate anus, spinal dysraphism) is usually lipoma with dural defect (LDD) (33,34). It
associated with terminal myelocystocele (16). represents about 24% of all spinal lipomas and
At MRI, nonterminal myelocystocele shows is frequently located in the lumbosacral spine,
the posterior wall of the hydrosyringomyelic but may be found at any level as a focal mass or
cavity herniating through the bifid spine into the showing multifocality and diffuse distribution
RG  •  Volume 41  Number 2 Trapp et al  569

Figure 10.  Meningocele. (a) Axial T2-weighted

image of the thoracic spine shows a cerebrospinal
fluid (CSF)–filled meningeal hernia (solid arrow)
through a posterior spina bifida (*). The thoracic
spinal cord is normal (dotted arrow), and there
are no neural elements inside the outpouching.
(b) Drawing shows a CSF-filled meningeal her-
nia (*) through a spina bifida (dashed arrows),
covered by skin and subcutaneous tissue (arrow-
heads) with a normal spinal cord (solid arrow).

(1,17,35,36). As with LDD, the embryologic Although filar lipoma and fatty filum terminale
origin involves an error in primary neurulation, (FFT) have similar embryopathology, it is impor-
with early separation between the cutaneous ec- tant to differentiate them at imaging. The latter
toderm and neuroectoderm, allowing insinuation is defined as lipomatous infiltration of the filum
of intervening mesenchymal tissue into the neural terminale with a maximum thickness of 2.0 mm.
tube and formation of a lipomatous mass and FFT is not clinically relevant (37).
preventing successful neurulation (1,3,17).
The clinical picture depends primarily on the Persistence of Terminal Ventricle.—Historically
size and location of the lipoma. If there is mass known as the “fifth ventricle,” persistent termi-
effect, cord compression syndrome will prevail in nal ventricle consists of a small ependyma-lined
cervical and dorsal intradural lipomas. As with cavity centrally located within the conus medul-
LDD, intradural lipoma can increase in size dur- laris (27). An error during secondary neurulation
ing child growth (3,31). leads to incomplete regression of the terminal
At MRI, intradural lipoma is depicted as a ventricle. A critical point is that continuity with
subpial lipomatous lesion lying between the folds the central canal of the rostral spinal cord is
of the placode. Large lipomas can displace the preserved. This differs from myelocystocele, in
spinal cord and appear off midline (Fig E2). which this connection is not preserved, leading to
Rarely, it is seen as an intramedullary lesion or a more severe condition (20).
even as intramedullary lipomatosis (1,3,17,31). Most cases of persistent terminal ventricle are
asymptomatic. According to the size of the cystic
Lipoma of Filum Terminale.—Filum terminale dilatation, some patients may have bladder disor-
lipoma (filar lipoma) is due to an abnormality ders, low back pain, or sciatica, possibly owing to
of secondary neurulation, in which impaired ca- thinning of the conus medullaris (38).
nalization of the tail bud and persistence of cells At MRI, the cystic cavity is isointense to CSF
capable of maturing into adipocytes are likely to with all sequences and does not show enhancement
be involved. This process occurs after disjunc- (Fig E4). In most cases, the size of the cystic cavity
tion of the cutaneous and neural ectoderm. This remains stable at follow-up but may rarely increase
lesion is covered by skin and lacks cutaneous owing to valve mechanisms (17). In 1995, Coleman
stigmas (20). et al (39) measured the dimensions of the termi-
The exact prevalence of filar lipoma in the nal ventricle with MRI in 11 children. They found
general population is unknown because most an average size of 22 mm in length (range, 15–30
patients are asymptomatic (95%). Cools et al mm), 4.1 mm in anteroposterior diameter (range,
(37) reported an estimated prevalence of about 1.5–6 mm), and 4.2 mm in transverse diameter
0.2%–4% in the adult population at MRI. (range, 1.5–6 mm).
At MRI, filar lipoma appears as a small lipo-
matous lesion in the filum terminale region with Complex Dysraphic States
no communication with the medullary cone (Fig
E3). It can be associated with other conditions, Dermal Sinus Tract.—Dermal sinus tract (DST)
especially type II caudal agenesis syndrome or or dorsal dermal sinus is defined as a midline
tethered cord syndrome (4,37). fistula lined by epithelium that connects the skin
570  March-April 2021 radiographics.rsna.org

Figure 11.  Myelocystocele. Sagittal (a)

and axial (b) T2-weighted images and
drawing (c) show a low spinal cord end-
ing in a large hydrosyringomyelic cavity
(solid arrow), which herniates through
the spina bifida (dotted arrows in b) into
a meningocele () and anchors in its
posterior wall. The terminal hydrosyrin-
gomyelic cavity is a continuation of the
ependymal canal (arrowhead in a and c)
that is dilated. Note that the cerebrospinal
fluid (CSF) of the syringomyelia does not
communicate with the CSF of the me-
ningocele. (Fig 11a and 11b courtesy of
Ricardo Mendes Rogerio, MD, Santa Casa
de Misericórdia do Estado do Pará, Belém-
Pa, Brazil.)

surface with the central nervous system or its

meningeal membranes. The lumbosacral region is
the most common site of involvement, with DST
being rare in the occipital, cervical, and thoracic
regions. Its prevalence is estimated at one in 2500
living births, and there is no sex predilection (29).
Embryologically, DST is the result of focal
failure in disjunction of the neuroectoderm from
the ectoderm during primary neurulation. The
lumbosacral region is the last place where fu-
sion of the neural folds occurs, with subsequent constructive interference in steady state [CISS]
closure of the neural tube. Therefore, there is a or fast imaging employing steady-state acquisi-
greater chance of failure of separation between tion [FIESTA]) should be included in the proto-
the neuroectoderm and the cutaneous ectoderm, col owing to their high sensitivity in depicting the
increasing the prevalence of DST at that location. DST. MRI can also depict associated malforma-
At physical examination, an ostium is observed tions, such as ectodermal inclusion cysts.
in the midline of the skin surface, most com- Therefore, it is important to include diffusion-
monly at the S2 level. It can occur in any vertebral weighted imaging (DWI) sequences, which allows
segment and may be associated with capillary differentiation of dermoid cysts from epidermoid
angioma, hairy nevus, or hyperpigmented patch. cysts. Epidermoid cysts often exhibit restricted
If associated with an inclusion cyst, then clinical diffusion. In case of associated infectious compli-
symptoms of infection or even compression of cations, in addition to DWI, contrast-enhanced
neural structures may occur. DST can connect fat-saturated T1-weighted imaging may reveal
the skin surface to any level of the subpial space, abnormal gadolinium enhancement of the dura,
causing several complications, such as meningitis, cauda equina roots, and pial surface of the conus
abscess, and CSF leak. Chemical meningitis can medullaris or even show characteristic peripheral
occur when a dermoid cyst associated with the enhancement of the abscess wall (Fig E5).
dermal sinus ruptures in the subarachnoid space.
MRI demonstrates a thin band, coursing Diastematomyelia.—Diastematomyelia, a type of
through the subcutaneous tissue with an oblique split-cord malformation (3), is defined by divi-
and descending trajectory. Moreover, it extends sion of the spinal cord into two hemicords, each
from the skin surface to the vertebral canal and covered by its own layer of pia mater and having
is usually detected in the sagittal and axial planes its own central canal. Each hemicord gives rise
(Fig E5). Heavily T2-weighted sequences (eg, to a pair of horns, one ventral and one dorsal
RG  •  Volume 41  Number 2 Trapp et al  571

(where the corresponding nerve roots originate). CRS is estimated to occur in 1.3 per 10 000
This malformation accounts for approximately newborns. It is a cardinal feature of diabetic em-
3.8% of all closed SDs. It is divided into type bryopathy, with an estimated risk 170–400 times
I and type II, with females affected more com- higher in infants born to mothers with pregesta-
monly than males. It is more common in the tional diabetes mellitus than in the general popu-
lumbar region (>80% of cases) and can be asso- lation (41). Other proposed contributing factors
ciated with vertebral anomalies and hydromyelia, include genetic predisposition (HLXB9 gene mu-
especially in type I (17). tation), vascular anomalies altering blood flow, and
During gastrulation, midline integration oc- drugs (eg, minoxidil, tri­methoprim sulfamethoxa-
curs in which the two paired notochordal anlagen zole, tocilizumab). With rare exceptions, the fetal
fuse in the midline to form a single notochordal karyotype is normal (40).
process. If these notochordal precursors fail to CRS results from abnormal development of
integrate, then they remain separate and develop the tail bud during the interface between primary
independently over a variable segment. The in- and secondary neurulation before the 4th week of
tervening space will be occupied by totipotential gestation. This abnormal development of the tail
primitive streak cells (19). bud impairs the normal migration of neurons and
Differentiation between the two types of the paraxial and lateral mesoderm cells, leading to
diastematomyelia depends on development of errors in development of the skeletal, gastrointesti-
primitive streak tissue. In type I, the intervening nal, and genitourinary systems (41).
primitive streak develops into bone or cartilage, The spectrum of neurologic findings varies
creating a septum (radiologic mark) that sepa- from mild and isolated foot deformity to complete
rates the dural sac in two. In type II, the primitive paralysis of both lower extremities, with motor
streak is reabsorbed or forms a fibrous septum, deficits being more severe than the sensory loss.
with a single dural sac involving both hemicords. Other findings include flattened buttocks, narrow
Clinical symptoms are variable and usually hips, short intergluteal cleft, neurogenic bladder,
related to orthopedic problems, such as foot and sphincter dysfunction.
malposition, leg weakness, low back pain, scolio- There are two types of CRS, which can be clas-
sis, and urinary or fecal incontinence. Cutaneous sified according to the degree of vertebral dysgen-
birthmarks—such as hairy tuft, nevus, lipoma, esis and the shape and location of the medullary
dimple, or hemangioma—in the lumbar region cone. In type I, there is a major degree of vertebral
can be a distinctive finding at physical examina- abnormalities, and MRI reveals vertebral dysgen-
tion (1,17,27). esis that may extend from the low thoracic region
In type I diastematomyelia, both hemicords to the coccygeal region. The conus medullaris
have their individual dural sacs and are separated is often high and has an abrupt terminus, usu-
by an osteocartilaginous or bony septum. Osteo- ally associated with parallelism (“double-bundle
cartilaginous separation is most characteristic. The shape”) of the roots of the cauda equina (Fig 14).
septum is extradural and usually extends from the Type I can result from abnormalities at the end of
vertebral body to the posterior elements. Vertebral primary neurulation and interruption of secondary
abnormalities are often present (eg, bifid lamina, neurulation.
hemivertebra, or bifid vertebra) (Fig 12). Imaging of type II CRS usually demonstrates
Type II diastematomyelia is characterized by less severe vertebral dysgenesis (eg, segmen-
a single dural sac containing both hemicords, tal agenesis of the sacral vertebrae or the entire
without an osteocartilaginous or bony septum. coccyx), and the caudal end of the spinal cord is
Vertebral anomalies are usually milder than in almost always tethered to an intraspinal mass (eg,
type I (eg, bifid spinous process). Heavily T2- lipomyelocystocele, spinal lipoma, anterior sacral
weighted sequences (eg, CISS or FIESTA) can meningocele). Absence of the tip of the medullary
be useful for depicting the nerve root course and cone can also be found (Fig 15). Type II is related
the relationship between the hemicords and the to abnormalities of secondary neurulation.
septum (3) (Fig 13).
Limited Dorsal Myeloschisis.—Limited dorsal my-
Caudal Regression Syndrome.—Caudal regres- eloschisis (LDM) is a unique form of SD that can
sion syndrome (CRS), caudal regression se- be promptly diagnosed with MRI and is character-
quence, or sacral agenesis (40) comprises a range ized by two main features: a focal “closed” midline
of abnormalities in the lower half of the body, in- skin defect and a fibroneural tract connecting the
cluding lumbosacral agenesis, along with variable underlying spinal cord to the skin (Fig E6) (42–
malformations in the lower limbs and genitouri- 45). It is an uncommon disease, with less than 200
nary and gastrointestinal systems and pulmonary cases reported in the literature. LDM is divided
hypoplasia (Table 2). into two main groups: nonsaccular and saccular,
572  March-April 2021 radiographics.rsna.org

Figure 12.  Type I diastematomyelia. Coronal (a), sagittal (b), and axial (c) T2-weighted images of the lumbosacral spine and draw-
ing (d) show two hemicords, each surrounded by its own dural sac (arrowheads in c, d), which are separated by an osteocartilaginous
or bony spur (solid arrow). There is a hydrosyringomyelic cavity (dashed arrow in b) cranial to the diastematomyelia.

Figure 13.  Type II diastematomyelia associated with tethered cord, intradural lipoma, and syringomyelia. Sagittal fat-satu-
rated T2-weighted (a) and axial T2-weighted (b) images of the lumbosacral spine and drawing (c) show a spinal cord split
into two hemicords (arrows in b), both surrounded by the same and only dural sac (arrowheads in b, c), with no identified
osteocartilaginous or bony spur. The end of the spinal cord is low and attached to the thickened filum terminale (open arrow
in a). Note the associated intradural lipoma (dotted white circle in a) and syringomyelia (solid arrow in a).

with the former being the most common. It can be Neurologic deficits are variable and usually
found in all of the spinal neuraxis, with the lumbar related to the location of the LDM (42–44),
segment being the most commonly affected, and is with the cervical spine being the most frequent
usually accompanied by skin lesions (42). segment associated with neurologic symptoms.
Pang et al (45) hypothesized that LDM is re- In the nonsaccular form, MRI often demon-
lated to incomplete disjunction between the neural strates a stalk that communicates with the dorsal
and cutaneous ectoderm during primary neurula- surface of the spinal cord, with an underlying
tion, given that the fibroneural stalk was attached malformation of the posterior vertebral elements
to the cord above the S1-S2 level. that can be associated with subcutaneous or skin
RG  •  Volume 41  Number 2 Trapp et al  573

Table 2: Associated Anomalies in Caudal Regression Syndrome

System Anomalies
Musculoskeletal Knee and hip flexion contractures, lower limb deformities, kyphoscoliosis, fusion or absence
of ribs, polydactyly, syndactyly, hypoplastic gluteal muscles, shallow intergluteal cleft
Gastrointestinal Anorectal anomalies, abdominal wall defects, duodenal or colonic atresia, malrotation, hernia,
fistula
Genitourinary Renal agenesis or dysplasia, horseshoe kidney, hydronephrosis, ectopic ureter, vesicoureteral
reflux, ureteral atresia, absent bladder, ambiguous genitalia
Others Neural tube defects, facial clefts, congenital heart disease, pulmonary hypoplasia, VACTERL*
syndrome, Currarino triad†
*VACTERL = vertebral, anorectal, cardiac, tracheal, esophageal, renal, and limb anomalies.
Anorectal malformation, sacrococcygeal osseous defect, and presacral mass.
†

Figure 14.  Type I caudal regression syndrome.

Sagittal (a) and axial (b) T2-weighted images of
the lumbosacral spine show partial agenesis of
the sacrococcygeal spine (arrowheads in a) and
abrupt termination of the conus medullaris at
the T12 level (thick solid arrow in a), which has a
wedge-shaped appearance. The nerve roots have
an abnormal path, configuring a “double-bundle
shape” (dotted arrows). The dural sac has high
termination, with closure just after the end of L5
(thin solid arrow in a).

Clinically, patients present with a kyphotic

deformity (sharply angled), hyperreflexia of the
lower extremities, and lower limb abnormalities
(flexion-abduction of the hip joints, flexion of the
knees, and equinovarus feet, which in the most
lesions. The spinal cord has a characteristic trap- severe forms result in a sitting position described
ezoid shape in the axial plane near the level of as “Buddha-like”) (46). Cutaneous stigmas may be
the stalk-cord union (43). Detailed description seen on the overlying skin. Associated visceral or-
of the saccular form is beyond the scope of this gan anomalies can be present and may include the
article and can be found elsewhere (44,45). urinary, anorectal, and cardiovascular systems (48).
MRI demonstrates involvement of one seg-
Segmental Spinal Dysgenesis.—Segmental spinal ment of the spine, with normal vertebrae below
dysgenesis (SSD) is a rare congenital abnormality and above the anomaly and a characteristic
characterized by localized agenesis or dysgenesis of kyphotic deformity. Agenesis or hypogenesis of
the spine and spinal cord. It can affect any seg- the involved vertebral body may be associated
ment of the spine but is more frequent in the lower with other vertebral abnormalities, like aplastic or
levels, with higher prevalence in the thoracolumbar hypoplastic vertebra, hemivertebra, and butterfly
and upper lumbar spine (46). vertebra (46,48). The spinal cord at the level of
It is believed that SSD results from de­ the deformity is thinned or completely absent,
regulated apoptotic events during gastrulation with a normal spinal cord above the segment.
in which wrongly specified cells are eliminated Usually, a bulky and low-lying cord can be found
owing to incorrect positional imprinting during below the abnormality.
chordal-mesodermal cell migration through the The main differential diagnosis for SSD in-
primitive pit, leading to embryonic segmental cludes CRS. Despite sharing a similar embryologic
malformation (1,46,47). basis, CRS represents a different condition (46).
574  March-April 2021 radiographics.rsna.org

Figure 15.  Type II caudal regres-

sion syndrome and lipomyelo­
schisis. Sagittal (a) and axial (b)
T2-weighted images of the lum-
bosacral spine show partial agen-
esis of the sacrococcygeal spine
(arrowhead in a), with some up-
per sacral vertebral segments still
visible. The spinal cord is tethered
at the L4-L5 level and anchored to
an intradural lipoma (thick arrow),
which communicates with the fat
from the posterior sacral subcuta-
neous tissue (thin arrow in a).

Multiple SDs.—Multiple SD forms or multiple- Acknowledgments.—The authors thank G.D.G. and T.d.A.L.F.
for the exceptional technical and scientific support, André
site neural tube defects are rare, accounting for Maia Ribeiro for collaborating with the creative process of the
less than 1% of neural tube defects (49,50), and manuscript, and Rodrigo Tonan for enriching the content of
are defined by the presence of more than one the manuscript through impeccable medical illustrations.
malformation with normal neural tissue between
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