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Review Article

Congenital brain anomalies: Neuroimaging findings

Thangjam Gautam Singh, Vaibhav Srivastav, Pooja Singhania, Shital Mala Devi1
Department of Radiology, Jawaharlal Nehru Medical College, Wardha, Maharashtra, 1Department of Pathology, RIMS,
Imphal, Manipur, India

ABSTRACT
Congenital brain anomalies are rare among the congenital anomalies of various organ systems. It is important to diagnose these conditions
at the earliest due to its far reaching neurological deficit and detrimental outcome. Most of the congenital brain anomalies can be reliably
diagnose by neuroimaging (computed tomography or magnetic resonance imaging) of brain. Radiologist and treating physician should be
aware of various specific imaging appearances and unique signs of these anomalies to avoid delay in diagnosis and thereby further treatment.
A widely accepted classification of brain anomalies with each representative radiological image are illustrated with its distinctive findings.

Key words: Congenital brain anomalies, computed tomography, magnetic resonance imaging

INTRODUCTION a. Holoprosencephaly
b. Lissencephaly
Central nervous system (CNS) anomalies have always c. Cortical dysplasia
fascinated radiologist with its various complicated d. Heterotropia
yet unique imaging findings. Accurate identification e. Schizencephaly.
of CNS anomalies is a prerequisite for proper 3. Posterior fossa malformations include:
management. We present here a comprehensive a. Dandy-Walker malformations
categorization of congenital brain anomalies with its b. Joubert syndrome
representative examples. c. Rhombencephalosynapsis.
4. Disorder of histiogenesis
CLASSIFICATION Common neurocutaneous disorders are:
1. Neurofibromatosis (NF)
Congenital brain anomalies can be classified as:[1] 2. Tuberous sclerosis (TS).
1. Disorders of primary neurulation: These are
mostly neural tube closure defects and early CNS Development of brain and spinal cord is referred to
anomalies occurring during 3rd and 4th gestational as dorsal induction. The basic developmental phases
weeks. These include Chiari malformations, are divided in to:[2]
cephaloceles and myelomeningoceles. 1. Primary neurulation: Refers to formation of brain
2. Disorders of diverticulation, cleavage, sulcation and upper spine which occurs around 3-4 weeks
and cellular migration. These include: gestational weeks.
2. Secondary neurulation: Refers to formation of
Address for correspondence
Dr. Thangjam Gautam Singh,
distal spine.
Department of Radiology, Jawaharlal Nehru Medical College,
Wardha - 442 004, Maharashtra, India. This classification was also similar to that of van der
E-mail: thangjamgautam@gmail.com Knaap and Valk.[3]
Access this article online
Quick Response Code: NEURORADIOLOGICAL FEATURES
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Chiari malformations
DOI:
Chiari 1
10.4103/2277-8632.134827
This group is characterized by herniation of “peg
like” enlongated, pointed cerebellar tonsils through
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Singh, et al.: Neuroimaging of congenital brain anomalies
foramen magnum into upper cervical spinal canal
[Figure 1]. Cerebellar tonsil herniation is considered
abnormal if it protrudes more than 6 mm below
the line joining the opisthion and basion in the first
decade, 5 mm in second/third decades, 4 mm between
fourth-eighth decades and 3 mm by ninth decade.[4]
Computed tomography/magnetic resonance imaging
(CT/MRI) will reveal the tonsillar herniation and
other associated findings such as small posterior
fossa, syringomyelia, atlanto-ocipital assimilation,
platybasia, basilar invagination and fused cervical
vertebrae.[5]
Chiari 2
These are usually accompanied by a lumbar
myelomeningocele with tonsillar herniation below
the foramen magnum [Figure 2]. Other findings
in Chiari 2 are beaked tectum, interdigitating
gyri, hydrocephalus, elongated fourth ventricle,
syringohydromyelia, lacunar skull, fenestrated falx.[6]
Chiari 3
In addition to the Chiari 2 malformation, this condition
always comprises of high cervical and low occipital
encephalocele. [7-9] Cases that do not involve the
upper cervical spinal canal should not be classified
as Chiari 3 malformation but they are simply as
encephaloceles.[9]
Chiari 4
This include severe cerebellar hypoplasia and small
brainstem and large posterior fossa cerebrospinal fluid
spaces.
Figure 1: Chiari malformation I: Sagittal section T2-weighted shows
elongated pointed “peg like” cerebellar tonsils herniating through
foramen magnum into upper cervical spinal canal
78
Two new subtle types has been added:[5]
Chiari 0
This subgroup of people are symptomatic for Chiari 1
malformations with craniocervical abnormalities of Chiari
1 malformations with arachnoid adhesions and bands
with crowded foramen magnum. They have minimal
or no hindbrain herniation but syringomyelia is present.
It is to be due to differential cerebrospinal fluid (CSF)
pressure in cervicomedullary junction.[10,11]
Chiari 1.5.
This group comprises cases with tonsillar herniation
with absence of brainstem elongation or fourth
ventricle abnormalities. This was used first by
Iskander and Oakes.[12]
Cephaloceles
It is protrusion of part of cranial contents
through a congenital opening in cranium. The
cephalocele may contain only meninges (cranial
meningocele), meninges and brain tissue
(encephalomeningocele or encephalocele) or meninges
with brain tissue and dilated portion of ventricle
(encephalocystocele or hydrencephalomeningocele or
encephalomeningocystocele).
Types of cephalocele are based on its location:
1. Occipital cephalocele.
2. Frontoethmoidal (sincipital) cephalocele (subtypes-
nasofrontal, nasoethmoidal type naso-orbital).
3. Cranial base cephalocele (five types: Transethmoidal
[intranasal, nasopharyngeal], sphenoethmoidal,
a b
c
Figure 2: (a) Sagittal section shows inferior cerebellar herniation
with lumbosacral myelomeningocele. (b) Axial section T2-weighted
shows tectal beaking. (c) Axial T2-weighted shows cerebellum
creeps around the brainstem
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Singh, et al.: Neuroimaging of congenital brain anomalies
sphenopharyngeal/transsphenoidal, spheno-orbital or
frontosphenoidal and sphenomaxillary.
4. Cranial vault cephalocele (interparietal, temporal,
interfrontal cephalocele).
5. Atretic cephalocele. Cephalocele may occur in
association with other malformation such as
Meckel syndrome, amniotic band syndrome,
trisomy 18, Dandy-Walker, Chiari, hydrocephalus,
cleft lip palate, spina bifida, callosal hypoplasia.
CT/MRI may reveal the content of the herniated
intracranial structures, including brain parenchyma,
meninges, and cerebrospinal fluid [Figure 3]. Prognosis
depends on degree of herniated brain parenchyma,
which is usually gliotic and dysplastic. Rarely, ventricle
can herniate.
Corpus callosum anomalies
It comprises of callosal agenesis, hypoplasia and
lipoma. Callosal agenesis can be complete or partial.
When partial, the splenium and rostrum are always
missing. In complete callosal agenesis, the entire
corpus callosum as well as the cingulated gyrus and
sulcus are absent [Figure 4]. Sulci and gyri on the
medial hemispheric surface appear to have a radial,
spoke like configuration. When partial, the splenium
and rostrum are always missing.
White matter axons which do not cross the corpus
callosum transversely courses longitudinally
and are called probst bundles, which indent and
invaginate into the superomedial aspects of the
lateral ventricles. The lateral ventricles are widely
separated and nonconverging. They lie parallel to
Figure 3: Computed tomography axial view: Cephalocele:
Herniation of left frontal lobe through a smooth corticated bony
defect
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each other and often have small pointed frontal
horns with disproportionately enlarged occipital
horns (colpocephaly). The third ventricle is elevated
and lies between the widely separated lateral
ventricles.
Associated anomalies are absence of other
commissural tracts such as anterior, hippocampal
commissures, midline anomalies (interhemispheric
cyst, lipomas), malformations in cortical development
(heterotopias, polymicrogyria, schizencephaly etc.).[13]
Callosal lipoma
Two types are described.[14]
1. Tubulonodular type: Usually, bulky (>2 cm) and
located at anterior part of corpus callosum and
frequently associated with hypogenesis/agenesis
of corpus callosum, frontal lobes anomalies,
frontal encephalocele, calcifications, and/or ocular
anomalies.
2. Curvilinear type: This is ribbon like and involves
posterior part [Figure 5]. They are less frequently
associated with corpus callosum anomalies and/or
other encephalic anomalies.[15,16]
DISORDERS OF DIVERTICULATION,
CLEAVAGE, SULCATION AND
CELLULAR MIGRATION
Holoprosencephaly
It arises due to complete or partial failure in division of
developing cerebrum (prosencephalon) into hemispheres
and lobes. It can be classified into three types: Alobar,
semilobar and lobar holoprosencephaly.[17]
Figure 4: Corpus callosum agenesis: Computed tomography
sag view: Complete absence of corpus callosum with sunburst
configuration
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Singh, et al.: Neuroimaging of congenital brain anomalies

Lobar holoprosencephaly is the least severe variety.

Various imaging findings squared-off frontal horns
(due to absence of septum pellucidum), well-
formed falx, separated/fused thalami and fusion of
hemispheres in anteroinferior part only [Figure 6].

Alobar variety is the most severe form and is

characterized by fused ventricle (monoventricle)
with “horseshoe” brain, fused thalami and basal
ganglia, and absence of septum pellucidum, corpus
callosum, falx cerebri and interhemispheric fissure and
associated with severe craniofacial anomalies.

Holoprosencephaly may be associated with cyclops Figure 5: Corpus callosum lipoma: Sagittal T1-weighted shows
curvilinear hyperintensity along the corpus callosal margin
with ethmocephaly, dorsal brain cyst or olfactory
nerve hypoplasia. Septum pellucidum is absent
in all three forms. Extracranial anomalies such
as polydactyly, renal dysplasia, omphalocele and
hydrops may be associated. Myelination may be
delayed.

Semilobar holoprosencephaly has variable facial

anomalies like rudimentary occipital horns of lateral
ventricles and partial falx.

Syntelencephaly is middle interhemispheric variant.[18]

In this mild sub type of holoprosencephaly, there
is midline fusion of the cerebral hemispheres
between the posterior frontal and parietal lobes. The
sylvian fissures on both sides are interconnected
over fused brain of corpus callosum normally
Figure 6: Lobar holoprosencephaly: Computed tomography
scan axial: Shows fused frontal lobes across midline without
interhemispheric fissure in anteroinferior region

formed but there may be absence of body of corpus

callosum. [19] Hypothalamus and lentiform nuclei
normally separated. Heterotopic gray matter may be
present.

Cortical dysplasia
Cortical dysplasia includes lissencephaly and
nonlissencephalic cortical dysplasia. Findings on
CT/MRI are diffuse or focal areas of thickened,
abnormal cortex that has irregular, bumpy gyral
pattern with relative decrease in underlying white
matter volume.

Lissencephaly Figure 7: Magnetic resonance imaging axial T1-weighted shows

Lissencephaly has three types.[20] thickened cortex with broad flat gyri consistent with lissencephaly

Type I: Thickened cortex, broad flat gyri, smooth grey Type II: Severe disorganized cortex, agyric, poor
white matter [Figure 7] interface, shallow slyvian corticomedullary demarcation, polymicrogyric
fissure [Figure 8], colpocephaly. appearance.
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Singh, et al.: Neuroimaging of congenital brain anomalies
Figure 8: Axial T2-weighted view shows multiple smooth nodular,
noncalcified area all along the margin of bilateral lateral ventricles
(subependymal region) consistent with grey matter heterotropias
Type III: Cerebrocerebellar type, hypoplastic
cerebellum, brainstem, microcephaly, enlarged
ventricles.
Focal cortical dysplasia
It is further classified (histopathologically)[21] into:
1. architectural dysplasia
2. Cytoarchitectural dysplasia
3. Taylor’s Focal cortical dysplasia (FCD):
a. Without balloon cells,
b. With balloon cells.
Magnetic resonance imaging findings of Taylor’s
FCD[22-25] are:
1. Focal cortical thickening,
2. blurring of the gray-white matter junction, and
3. marked hyperintensity of the subcortical white
matter on T2-weighted images, which often
appeared hypointense on T1-weighted images.
In addition, the white matter signal intensity
alterations often tapered toward the ventricle.
Magnetic resonance imaging findings in architectural
or cytoarchitectural dysplasias (non-Taylor ’s
FCD):[22-25]
1. Focal brain hypoplasia, shrinkage
2. Moderate signal intensity changes in subcortical
white matter (architectural dysplasia).
The lesion was generally extratemporal in Taylor’s
FCD and temporal in architectural dysplasia.
Ipsilateral hippocampal sclerosis was often present in
architectural dysplasia (dual abnormality).
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Heterotopia
Grey matter heterotopias are basically normal neurons
at abnormal site due to impair normal neuronal
migration along radial glial fibers. [26] It can be
periventricular, subcortical and laminar.
Periventricular (subependymal) heterotopias
These are nodular grey matter foci in subependymal
area which shows signal intensity similar to cortex
on all MR sequences and doesnot enhance [Figure 8].
Subcortical heterotopias
They can be nodular, curvilinear or mixed
in morphology and are usually seen within the
subcortical or deep white matter. The overlying
cortex may be thinned with shallow sulci. Nodular
subcortical heterotopias (SCH) appear as nodules
or larger mass like lesion that extend from the
ventricular surface outward into the white matter
without continuity with the cerebral cortex.
Curvilinear SCH appears as heterogeneous curvilinear
masses of gray matter that extends from the cortical
surface into the white matter. Blood vessels, CSF may
be seen within the layer of the gray matter.
Laminar heterotopias
It is the extra neuronal bands in between cortex and
ventricles, which on MRI appears as continuous
double cortex with the cortex and bilateral symmetric
circumferential subcortical layer of band heterotopia
separated from each other by a thin white matter
band. The cortex may be relatively normal or
pachygyric.[27-30]
Schizencephaly
Cerebrospinal fluid cleft lined by grey matter. It
extends from ependymal area to pia surfaces.
Two types:
1. Open type: Cleft walls in apposition [Figure 9]
2. Closed type: Cleft walls far apart [Figure 10].
POSTERIOR FOSSA MALFORMATIONS
Dandy-Walker malformation [31] is characterized
by enlarged posterior fossa with cystic dilatation
of fourth ventricle and upward displacement of
transverse sinuses, tentorium and torcular herophili
(lambdoid-torcular inversion) associated with
varying degree of vermian aplasia or hypoplasia
[Figure 11].
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Dandy-Walker variant
Mild vermian hypoplasia (VH) with variable
sized cystic space caused by communication of
posteroinferior fourth ventricle and cistern magna
through an enlarged vallecula (key hole appearance).
Joubert syndrome
The most important component Joubert syndrome[32]
is the dysgenetic vermis which may appear split
or segmented. The inferior and superior cerebellar
peduncles are often small and fourth ventricular roof
appears superiorly convex giving the classical “molar
tooth” appearances on CNS imaging [Figure 12].
Other morphologic features include: Dysgenesis
of the isthmic portion of the brain stem at the
pontomesencephalic junction, and sagittal vermic
clefting.
Figure 9: Computed tomography axial view: Open type of
schizencephaly: Larger size cleft
b
Figure 11: Dandy-Walker malformation: Computed tomography
scan, (a) axial section shows dilated bilateral lateral ventricles and
cystically dilated fluid filled fourth ventricle with hypoplastic vermis
and cerebellar hemispheres (b) sagittal section shows in additional
elevation of torcular herophili and hypoplastic corpus callosum
82
Associated supratentorial findings include hippocampal
malrotation, callosal dysgenesis, migration disorders,
cephaloceles, and ventriculomegaly.
The term Joubert syndrome and related disorder (JSRD)
refers to all conditions having molar tooth sign (MTS).
MTS and VH causing distortion and enlargement of the
fourth ventricle[33-35] are mandatory diagnostic criteria as
they are the most consistent finding in JSRD.
The “Joubert-plus anomaly”[34] comprises the Joubert
malformation plus additional anomalies of the
mesencephalon or fourth ventricle;
Rhombencephalosynapsis
It comprises of agenesis of vermis leading to midline
fusion of the cerebellar hemispheres, peduncles
Figure 10: Schizencephaly: Computed tomography scan axial view:
Closed type schizencephaly: Cerebrospinal fluid cleft lined wall are
in closed apposition
Figure 12: Jouberts syndrome: Magnetic resonance imaging axial
section T2-weighted shows mildly hypoplastic dysplastic vermis with
fourth ventricle communicates directly through a narrow interhemi-
spheric cleft with the cisterna magna and elongated fourth ventricle
giving the classical “Molar tooth sign”
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Singh, et al.: Neuroimaging of congenital brain anomalies

and fusion of dentate nuclei and variable fusion of • Shagreen patch

colliculi [Figure 13].[36]
In partial rhombencephalosynapsis,[37] there is normal
anterior vermis and nodulus with absent posterior
vermis and partial fusion of the inferior part of the
cerebellar hemispheres.
DISORDER OF HISTIOGENESIS
Tuberous sclerosis
The classic clinical triad consists of papular
facial nevus, seizure and mental retardation. CNS
manifestation includes cortical tubers, white matter
lesions, subependymal nodules (along lateral
ventricles along striothalamic groove) [Figure 14]
and subependymal giant cell astrocytoma (located
in foramen of monro).[38] Non-CNS lesions are renal
angiomyolipoma, cardiac rhabdomyomas, hepatic
leiomyomas, hepatic, pancreatic adenomas, shagreen
patches, subungual fibromas and facial angofibromas.
The diagnostic criteria is modified from those of
Roach et al.:[39]
• Definitive TS complex: Either 2 major features or
1 major and 2 minor
• Probable TS complex: 1 major and 1 minor
• Possible TS complex: Either 1 major or 2 or more
minor.
Major features
• Facial angiofibroma or forehead plaque
• Nontraumatic ungual or periungual fibroma
• Hypomelanotic macules (3 or more)
• Multiple retinal nodular hamartomas
• Cortical tuber
• Subependymal nodule
• Subependymal giant cell astrocytoma
• Cardiac rhabdomyoma
• Lymphangiomyomatosis
• Renal angiomyolipoma.
Minor features
• Dental pits: Multiple and randomly distributed
• Rectal polyps: Hamartomatous
• Bone cysts
• Cerebral white matter migration lines
• Gingival fibromas
• Nonrenal hamartoma
• Retinal achromic patch
• “Confetti” skin lesions
• Multiple renal cysts.
Tubers typically appear as areas of increased signal
intensity in the cortical and subcortical regions on
T2-weighted and fluid attenuated inversion recovery
MRI. It enhances in 3-4 % of cases.[40]
Subependymal nodules are located along the walls of
lateral ventricle. It may enhance rarely.
Subependymal giant cell astrocytoma. [40] It
usually arises near the foramen of monro leading
to obstruction and hydrocephalus. It appears has
heterogeneous signal intensity on T1- and T2-
weighted sequences. It enhances heterogeneously on
postcontrast study.

b
Figure 13: Rhombencephalosynapsis: (a) Computed tomography Figure 14: Tuberous sclerosis: Computed tomography scan axial
axial section, (b) axial fluid attenuated inversion recovery shows view reveals bilateral subependymal nodules and at caudate
absence of vermis with midline fusion of cerebellar hemispheres nucleus which are calcified

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Singh, et al.: Neuroimaging of congenital brain anomalies
b
Figure 15: Neurofibroma (a) Axial T1-weighted: Widening of
bilateral neural foramina with intradural, predominantly
extramedullary tortuous, worm like masses arising along the axis
of peripheral nerves exiting through it extending up to the periphery,
which is isointense on T1-weighted causing compression of cord
(b) Coronal T2-weighted: Hyperintense thickened nerve roots exiting
neural foramina on both sides
Neurofibromatosis
These are heterogeneous group of diseases included in
neurocutaneous syndrome/phakomatoses. Two main types:
Neurofibromatosis Type I: (Von Recklinghausen
disease)
Diagnostic criteria: 2 or more of following findings:[41]
1. 6 or more 5 mm or larger café-au-lait spots
2. 1 plexiform neurofibroma or 2 or more
neurofibromas of any type [Figure 15]
3. 2 or more lisch nodules
4. Axillary/inguinal region freckling
5. Optic nerve glioma
6. First degree relative with NF1
7. Bone lesion — Dysplasia of greater wing of
sphenoid, pseudoarthrosis.
Neurofibromatosis Type II
The criteria for definite diagnoses of neurofibromatosis
Type II[42] are as follows
1. Bilateral CN VIII schwannomas [Figure 16]. On
MRI or CT scan (no biopsy necessary)
2. First-degree relative with NF2 and either unilateral
early-onset CN VIII schwannoma (age <30 year)
or any two of the following:
a. Meningioma
b. Glioma
c. Schwannoma
d. Juvenile posterior subcapsular lenticular
opacity (juvenile cortical cataract).
84
Figure 16: Neurofibromatosis Type II axial T1-weighted contrast:
Heterogeneous well defined lobulated lesions in bilateral
cerebellopontine angles (with broad base toward dura) extending
and enlarging bilateral internal auditory canal a with cerebrospinal
fluid clefts around with effacement of fourth ventricle
Presumptive diagnoses of neurofibromatosis Type II
1. Early onset of unilateral CN VIII schwannomas
on MRI or CT scan detected in patients younger
than 30 years and one of the following:
a. Meningioma
b. Glioma
c. Schwannoma
d. Juvenile posterior subcapsular lenticular
opacity.
2. Multiple meningiomas (>2) and unilateral CN VIII
schwannoma or one of the following:
a. Glioma
b. Schwannoma
c. Juvenile posterior subcapsular lenticular
opacity.
CONCLUSION
Identification of distinctive neuroimaging findings of
various congenital brain anomalies are immensely
helpful in diagnosing the anomalies and further
management.
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How to cite this article: Singh TG, Srivastav V, Singhania P, Devi SM.
Congenital brain anomalies: Neuroimaging findings. J NTR Univ Health
Sci 2014;3:77-85.
Source of Support: Nil. Conflict of Interest: None declared.
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