RadloGraphlcs Index terms:

NEUROLOGIC IMAGING
#{149}
BraIn
PEDIATRIC
#{149}
Neurologlc
IMAGING Congenital central nervous
CumulatIve Index terms:
BraIn, abnormalItIes
system anomalies
Holoprosencephaly
BraIn, hernIa
Corpus callosum,
abnormalIties
Nervous system,
abnormalitIes Larry B. Poe, M.D.

Linda L. Coleman, M.D.

Faruq Mahmud, M.D.

Abstract: Magnetic resonance Imaging, because oflts multiplanar

capablilties and exquisite contrast differentiation, has risen above all
other forms ofln vlvo Imaging for the classification and determination of
congenital cenfral nervous system (CNS) anomalies. We briefly discuss
pertinent aspects 01CN$ embiyoiogy and, using a recently proposed
classification ofcentrai nervous system anomalies, present examples of
a spectrum ofabnormailties that one mayencounter in practice. These
anomalies include: the Chiari malformations, encephaioceles,
hoioprosencephaly, septooptic dysplasia, Dandy.Waiker variant,
hydranencephaly, phakomatoses, schizencephaly, agyria orpachygyria,
and dysgenesls of the corpus caiiosum.

THIS EXHIBIT WAS DISPLAYED AT

THE 74TH SCIENTIFIC ASSEMBLY
AND ANNUAL MEETING OF THE PA-
DIOLOGICAL SOCIETY OF NORTH
AMERICA. NOVEMBER 27-DECEM-
BER 2. 1988, CHICAGO, ILLINOIS. IT
WAS RECOMMENDED BY THE PEDI- Introduction
ATRIC IMAGING PANEL AND WAS
ACCEPTED FOR PUBLICATION AF-
Recently, van den Knaap and Valk (71) proposed a modification
TER PEER REVIEW AND REVISION
ON MARCH 21. 1989. of the Volpe classification of congenital central nervous system
(CNS) anomalies. This is a useful scheme to relate specific congenital
anomalies to the timing of common embryopathologic
derangements. This classification is based on MRI appearances and
is organized in terms of the timing of gestational disturbances. The
underlying etiology, in over 60% of congenital CNS structural
anomalies, is unclear; but inherited factors account for 20%;
chromosomal anomalies, 10%; and environmental factors, 10% (27).
From the Department of While the distinct disruptive events may be obscure, the great
Radiology, Geisinger Medical
significance of these lesions is not; one-third of all major anomalies
Center, Danville, PA.
involve the central nervous system (78). Magnetic resonance
Address reprint requests
to L. L. Coleman, M.D., De- imaging, because of its multiplanar capabilities and exquisite
partment of Radiology, Gei- contrast differentiation, has created a new standard for examining
singer Medical Center, North congenital anomalies and provides anatomic information in vivo that
Academy Ave., Danville, PA was not attainable with earlier types of Imaging.
17822.

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0
U

.
Table I
0
C Specific Anomalies Presented in
This Discussion include: (after Timing of
van den Knoap (71 ) Gestational Defect

1 Dorsal Induction
.

A. Chiani malformations 4 weeks

B. Encephaloceles 4 weeks
2. Ventral Induction
A. Holoprosencephaly 5-6 weeks
B. Septooptic dysplasia 6-7 weeks
C. Dandy-Walker malformation 7-1 0 weeks
3. Neuronal Proliferation and Histogenesis
A. Neurofibromatosis 5 weeks-6 months
B. Tubenous sclerosis 5 weeks-6 months
C. Primary hydranencephaly 3 months or later
4. Migration
A. Schizencephaly 2 months
B. Agynia and pachygynia 3 months
C. Gray maffer heterotopias 5 months
D. Dysgenesis of corpus callosum 2-5 months

I. Disorders of Dorsal Induction

The development of the human brain be- A. CHIARI I MALFORMATION

gins as the notochordal process and primitive
mesoderm induce the neural plate. The neural The hallmark of a Chiari I malformation is
plate, through growth and invagination, even- the herniation of the cerebellar tonsils below
tually gives rise to the neural tube and ulti- the foramen magnum. Slight tonsillar ectopia is
mately to the brain and spinal cord. This pro- commonly seen on midsagittal MR images in
cess, referred to an neurulation, occurs within normal patients, but depending on how the
the third and fourth weeks of gestation (70,72). measurement is taken, only ectopia greater
Dorsal induction anomalies include all defects than 3-5 mm is considered to be significant
of closure of the neural tube such as anen- (1,5). Symptoms in this disorder are related pri-
cephaly, cephaloceles, spinal dysraphic states manly to compression of the spinal cord or cere-
and hydromyelia. The Chiani malformations are bellum or to associated syningohydromyelia
included in this category, although it is unclear
how they are related.

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(55,78). Symptoms usually do not become B. CHIARI II MALFORMATION
manifest until early adulthood.
0
Caudal herniation of the cerebeliar tonsils The Chiani II malformation is a complex of
through the foramen magnum may occasion- anomalies involving almost all parts of the neu- 0

ally extend as low as 03. This obliterates the ral axis (56). The hallmark of this malformation is 3
0
cisterna magna. Syringohydromyelia of the dysgenesis of the hindbrain manifested by a
0
cervical cord is seen in up to 75% of cases on caudally displaced fourth ventricle and brain
MRI. The lower brain stem may have a slight stem, with cerebellar tonsillar, and vermian
anterior angulation at the level of the foramen herniation through the foramen magnum. This
magnum. Despite caudal elongation of the is almost always associated with meningomye-
tonsils, the fourth ventricle is normal in position, locele and obstructive hydrocephalus. Grossly,
though it may be slightly distorted in shape most of the changes in the posterior fossa
(Figure 1). There is an association of the Chiani I might be ascribed to the limited space avail-
malformation with craniovertebral junction ab- able for development and growth, since the
normalities such as basilar impression, occipita- posterior fossa is small. This causes the devel-
lization of the atlas, and Kippel-Feil deformity. oping bone, dura and brain parenchyma to
Hydrocephalus is found in up to 44% of cases mold and to be molded by surrounding struc-
(17,26,27,55,56,69,78). Since brain stem tures (17,53,54,56,76). The tentonium is dysplas-
changes are variable, the mamillopontine dis- tic; its free edge is very wide and U-shaped and
tance may be normal or reduced (26,56). its caudal edge infenionly is inserted close to the
foramen magnum. This allows the cerebellum
to extend above the incisura, creating what
has been referred to as a “pseudomass” or
“towering cerebellum” (Figure 2). Alternative-

Figure 2
Chiarl II malformation Ti weight-
ed MR image Note the towering
cerebellum above the dysplastic
tentonium (arrows). There are also
distortion of the cerebellar folio
and hydrocephalus.
- ------ I Imalformatlon
Ti weighted midsagiffal MR
image This scan exhibits tonsillar herniation; ante-
nor angulation of the medulla at its junction with the
spinal cord, a normal fourth ventricle and a normal
mamillopontine distance.

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0
a
E ly, the posteroinfenior cerebrum may drop with poor visualization of the cerebellar folia
0 through the wide incisura, flattening the supe- on sagittal images (76). The cerebellum grows,
a nor portion of the cerebellum (26) (Figure 3). or migrates, anteriorly and laterally around the
For this reason, the straight sinus tends to be brain stem creating a so-called “triple peak”
much more vertically oriented and shorter on transaxial images (56). The cerebellopon-
a than normal. The cerebellum is hypoplastic tine angle cisterns and the cisterna magna are
0 and poorly differentiated, with a characteristic obliterated, and there is petrous bone scallop-
craniocaudal elongation. This is associated ing in 70-90% of cases (55,56) (Figure 4).

2), the occipital lobe “stenogynia” (arrowheais),

Chiarl II malformation Ti weighted parasagiltal MR poorly identified cerebellar folia and nonvisualization
images (A) Note the elongation of the fourth yen- of the cerebral aqueduct. (B) Also, note the tempo-
tnicle; the low lying cerebellar tonsils and vermis, ropanietal herniation through the dysplasfic fenton-
beaked tectum (arrow 1 ), and concave clivus; the ium which flattens the superior portion of the core-
absence of the splenium of corpus callosum (arrow bellum (arrow 3).

lateral migration or “growth” of the cerebellum

4A (Magnified for greater detail) around the brain stem obliterating the perimesence-
Figure 4 phalic cistern infenionly (B, arrowheads). Note the
Chiari II malformation Sequential Ti weighted “bullet” shaped cerebellum. There is also a “heart
transverse MR images reveal petrous bone scallop- shaped brain stem secondry to tectal beaking (C,
ing inferionly (A, short arrows). There is anterior and long arrow).

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The midbrain is stretched increasing the structures, not only at the fonamen magnum,
mamillopontine distance (26). The fourth yen- but at the significantly smaller arch of Cl
tnicle is thin and elongated and, in some cases, (53,54,56). Because of molding, the fonamen 0
completely obliterated as it herniates caudally magnum is enlarged in 75% of patients. The 0
(Figure 5). The herniation of the medulla poste- collicular plate becomes fused creating a 3
nor to the spinal cord creates a cervicomedul- beaked tectum that invaginates into the cene- 0
lary kink in up to 70% (65) (Figure o). The cas- 0
bellum, and there is concave scalloping of the 3
cade of herniating brain stem, fourth ventricle, clivus in up to 80% of cases (55).

Flgur. 6

Figure 5
Chiarl II malformation This Ti weighted midsagittal MR image of a
different patient, reveals the beaked tectum, the nearly obliterated and
elongated fourth ventricle, the large massa intermedia of the thalamus
partially obliterating the third ventricle, and characteristic craniocaudal
elongation of the cerebellum. Despite the small posterior fossa, which
creates an anterior compression of the medulla and cerebellum at the
level of the foramen magnum, there is still a prominent prepontine cis-
tern. The midbrain has been stretched considerably as manifested by
the increase in mamillopontine distance (arrows).

Figure 6
Chiari II malformation This midsagittal image of the spine reveals
the herniation of the medulla posterior to the spinal cord creating the
“cervicomedullary kink” (long arrow). Note also the syringohydro-
myelia (arrowhead).

Figure 7
Chiari II malformation This Ti weighted transverse MR image shows
the classic asymmetric enlargement of the lateral ventricles, designat-
ed “colpocephaly.” A shunt enters from the left.

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0
a
E Although in the usual case, the fourth ventni- The falx is always abnormal and may be fen-
0 cle will be greatly attenuated, in 5% of cases, estrated on partially absent, leading to gyral in-
a the fourth ventricle becomes isolated with bal- tendigitation across the midline in 20-80% of
loon-like dilatation, presumably secondary to cases (55,56,76,78) (Figure 10).
adhesions (56). Over 90% of patients have hy-
a drocephalus, which may not become evident
0 until after the meningomyelocele has been re-
paired. There is asymmetric enlargement of
the lateral ventricles in a typical colpocepha-
lic pattern (Figure 7). The third ventricle may
be only slightly enlarged, but it has a bicon-
cave appearance created by enlargement of
the massa intermedia of the thalami (Figure 8).
The anterior horns of the lateral ventricles may
be pointed infeniorly (Figure 9), because of
prominent impressions from the caudate nu-
clei. This appearance may also be seen in the
40% of these patients in whom the septum pel-
lucidum is absent (10,17,26,55,56,76). Hydro-
cephalus is associated with a dysfunctional
aqueduct of Sylvius, but the aqueduct is not
necessarily mechanically obstructed. Nonvi- Figure 8
sualization of the cerebral aqueduct is present Chiari II malformation A Ti weighted midsagiffal
in up to 70% of cases on MR imaging (55,56), MR image reveals hindbnain abnormalities similar to
and there is a wide prepontine cistern, as well those seen in Figure 2. In addition, there is thinning
as a wide, supracenebeilan, CSF-containing of the corpus callosum, prominence of the massa in-
space that enlarges after ventricular shunting termedia of the thalamus (short arrow), elevation of
the hypothalamus (long arrow), and vertical onienta-
(53,76).
tion of the straight sinus (arrowhead). The last find-
ing indicates inferior insertion of the tentorium. Note
the caudal migration of the occipital lobe.

Figure 10
Figure 9
Chiari II malformation Ti weighted coronal (A)
Chiarl II malformation A coronal Ti weighted MR
and transverse (B) images reveal the dysplastic falx
image demonstrates inferior pointing of the frontal
with intendigitation of the gyni. (A ventricular shunt is
horns despite the presence of a stretched septum
present in the left lateral ventricle).
pellucidum. There are prominent impressions pro-
duced by the caudate nuclei (arrowheads).

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The Chiani Ii malformation is associated with

other central nervous system anomalies, in-
cluding dysgenesis of the corpus callosum, syr-
ingohydnomyelia and excessive gyration of the
cortex. Excessive gyration leads to either so-
called “stenogyria” (normal cortex histologi-
cally) or “polymicrogynia” (abnormal cortex
histologically) (76) (Figure 3). These abnormali-
ties emphasize the involvement not only of the
hindbrain but of other portions of the neural
axis as well.
it has been stated that Chiani I and II malfor-
mations are unrelated (55,78), yet from MR im-
ages, there seems to be a spectrum of inter-
mediate anomalies between Chiani I and
Chiari II (26,65,69).

C. ENCEPHALOCELES
Figure 1 1
Encephalocele refers to a protrusion of Occipital encephaioceie This parasagittal MR im-
age reveals brain panenchyma that has herniated
meninges and brain substance through a de-
through a posterior calvanial defect. Although the
fect in the skull. Encephalocystomeningocele
protrusion contains a large vessel, represented by a
refers to the protrusion of some portion of the
linear signal void, it is difficult to identify possible
ventricles, as well as brain panenchyma. In the ventricular structures because of distortion.
United States, encephaloceles are most com-
monly occipital in location (70%), but they
may be panietal (10-20%), frontal (10%), on mation” specifies a cenebellar herniation
basal (10%). An encephalocele may simply ne- through a cervicooccipital defect
suit from a cranial defect, on it may occur con- (15,17,23,28,55). The exquisite contrast nesolu-
currently along with other more complex brain tion of MRI should allow easy differentiation be-
anomalies. The contents of an encephalocele tween a CSF filled herniation and one filled
often undergo significant notation and diston- with brain parenchyma, especially at the skull
tion (Figure 11). The so-called “Chiari Ill malfor- base.

ii. Disorders of Ventral induction

Ventral induction refers to the induction of systems. These inductive events also lead to
events in the nostral end of the primitive brain the development of the optic vesicies, the 01-
that are intimately tied to the development of factory bulbs, the third ventricle, hypothala-
the face. These inductive events lead to the mus and thalami. These events occur between
formation of the prosencephalon (forebrain), five and ten weeks of gestation.
mesencephalon (midbrain), and rhomben- Disorders of ventral induction include the ho-
cephalon (hindbrain). The forebrain becomes loprosencephalies, septooptic dysplasia, and
the telencephalon which divides into two cer- agenesis of the septum pellucidum.
ebral hemispheres and two lateral ventricular

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A. HOLOPROSENCEPHALY holovententnicle is often distorted by an

enlarged “dorsal cyst”, the origin of which is
Holopnosencephaly results when the poorly understood (17,29). There is most
forebrain (prosencephalon) fails to undergo commonly a “pancake” variety of brain
diverticulation . The anterior telencephalon parenchyma anteriorly, the most posterior
fails to divide into cerebral hemispheres and a margin of which is defined by a band of tissue
monoventnicle results. The diencephalon fails that is usually not identifiable on a CT scan
to diverticulate into separate thalami, and the (29). The cerebral mantle is pachygyric. No
olfactory bulbs fail to develop. The third ventricle, Sylvian fissure, opercular cortex,
development of the face is intimately related falx, intenhemisphenic fissure, corpus callosum,
to development of the brain, so a spectrum of on tentonium exist. The fused thalami and basal
facial defects occurs ranging from mild ganglia are seen as bumps at the base of the
hypotelonism to large midline clefts and holoventnicle anteriorly in the midline (Figures
cyclopia. There are three forms of 12 and 13). The cerebellum and brain stem
holoprosencephaly, which are classified as to may be normal in gross appearance, but they
the degree of brain cleavage present. These are often associated with the presence of
are alobar, semilobar and lobar cysts, on other structural or histologic defects.
(2 17,28,29,49,55,57) .Holoprosencephaly is The internal cerebral veins, superior and
often associated with chromosomal inferior sagittal sinuses, straight sinuses, and
abnormalities of which tnisomy 13 is the most vein of Galen are absent. Aloban
common (27). holoprosencephaly can be distinguished from
Aloban holoprosencephaly, in which there massive hydrocephalus and hydrocephaly,
is no diverticulation of ventricles on cerebral because in massive hydnocephalus, unlike
mantle is the most severe form. In it, there is a aloban holopnosencephaly, the falx and
single holoventnicle, which may be horseshoe interhemisphenic fissure are present, and in
shaped in the coronal plane, and no hydranencephaly, the thalami are not fused
differentiation of the ventricular system (2,17,28,29,49,55,57).
occurs. The posterior margin of the

I 2B
Figure 12
Aiobar holoprosencephaiy Nonsequential transverse CT scans re-
veal a monoventnicle with anteriorly fused thalami (arrow). There is
absence of the interhemisphenic fissure, third ventricle and corpus
callosum. A crescent shaped anterior cerebral mantle represents the
undivided prosencephalon, the posterior margin of which cannot be
identified on the CT scan. The monoventnicle is distorted by a large
compression dorsal cyst, the anterior borden of which is approximat-
ed by the hippocampal fonnix (arrowheads).

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0
In semilobar holoprosencephaly, there is septooptic dyspiasia may occur with no 0
beginning formation of the occipital or accompanying nadiologic changes (74). When .
temporal horns or both, and there is some radiologic changes are present they include 3
0
development of the interhemisphenic fissure absence of the septum pellucidum. isolated .
0
and falx posteriorly. The venous sinuses may be absence of the septum peilucidum has been 3.
0
more developed than in aloban said to be a normal variant, but in a review of 1<

holoprosencephaly (17,29,49,55). 2,000 cases examined by MRI, Barkovich found

In lobar holoprosencephaly, there is nearly none in which it occurred as an isolated entity.
complete cleavage of the forebrain with a Absence of the septum peliucidum should,
shallow anterior interhemisphenic fissure. therefore, alert one to the possibility of other
Histologically, there is some fusion of the two structural defects (10). Also, in septooptic
hemispheres anteriorly. The septum pellucidum dysplasia, the frontal horns are usually dilated,
is absent, and the corpus callosum may be appear to be squared off dorsally, and are
dysgenetic on normal. There may be pointed inferiorly on coronal imaging. The
hypoplasia of the optic vesicles and olfactory optic nerves and chiasm may be small, and
bulbs (17,29,49,55). the optic chiasm may be distorted because
Septooptic dysplasia is a rare anterior the decussation may be rotated 90#{176}
to the
midline anomaly that is often considered to be vertical (Figures 14 and 15). There is often
a mild form of loban holoprosencephaly, since dilatation of the chiasmatic and suprasellar
it results from abnormal ventral induction and cisterns with dysgenesis of the hypothalamus
diverticulation (28,48,55) .Clinical findings as well as dilatation of the anterior recesses of
include optic nerve hypoplasia, hypotelonism, the third ventricle. The fornix may be lower
hypopituitanism (with diabetes insipidus in than normal, and in patients with diabetes
50%), seizures, nystagmus, and hypotonia. insipidus, there may be enlargement of the
There is no consistent relationship between the pituitary stalk (17,27,28,29,44,48,55).
clinical findings and the findings on CT, and

Figure 13
Aiobar boioprosencephaiy Nonsequential sonographic images, in
the same patient as in Figure 1 2, reveal the monoventnicle which is tu-
bulan shaped anteriorly (A) and slightly horseshoe shaped more pos-
teniorly (B). The fused thalami indent the holoventnicle infeniorly (B,
arrow).

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a
0.
.
U
C
0
0
0.
Figure 14
0 Septooptic dyspiasia This Ti weighted midsagittal
0 MR image reveals severe hypoplasia of the optic chi-
asm, hypothalamus, lamina tenminalis, and anterior
commissune. There is dilatation of the anterior re-
cess of the third ventricle. The pituitary gland is 4
small, and the infundibulum is not identifiable on this
3 mm section.

‘If ,-*

Figure 15
Septooptic dyspiasia Nonconti-
guous coronal Ti weighted MR im-
ages reveal absence of the septum
pellucidum and squared off frontal
horns which have inferior points
(A, arrowheads). The optic hiasm
is not identifiable in its expected
location above the diminutive pitu-
itary gland (B, arrow).
I 5A I 5B (Magnified for greater detail)

B. THE DANDY-WALKER MALFORMATION tion of the tentonium (35,37,60). Hydnocephalus

is variable at birth, but usually develops over
The Dandy-Walker syndrome is a hindbnain time (37). The posterior medullary velum forms
malformation that is characterized by variable the cyst wall (78).
hypopiasia of the vermis, and cystic dilatation The Dandy-Walker variant occurs much
of the fourth ventricle, which communicates more commonly than the true Dandy-Walker
with a posterior fossa cyst. In a true Dandy- cyst (Figure 16). In the “variant” condition, the
Walker cyst, the fonamen of Magendie is oblit- fourth ventricle is smaller and better formed,
enated, and no communication exists be- the retrocerebeilar cyst is smaller, and there
tween the Dandy-Walker fourth ventricle cyst may be communication between the fourth
and the subanachnoid space. Some of the su- ventricle and the subarachnoid space through
penior vermis is usually present; it is superiorly a patent foramen of Magendie
displaced toward the tentonium by the retno- (17,35,37,55,60,78).
cenebellan cyst. This cyst also displaces anteni-
only and laterally the cenebellar hemispheres,
which may be hypoplastic. The posterior fossa
is enlarged, and there is elevation of the insen-

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0
3
0.
Over 60% of cases of Dandy-Walker cyst tion of the Dandy-Walker cyst is trapping of
or variant will have other associated congeni- the cyst above the tentorium, which causes
0
tal, central nervous system anomalies includ- the cyst to assume a characteristic “keyhole”
ing agenesis of the corpus collosum and holo- configuration as it extends above the incisura
prosencephaly (37). A well known complica- (75).
0
0
Figure 16 3
Dandy-Walker variant (A) This 0
Ti weighted midsagittal MR image 0
reveals a grossly dilated fourth 3

ventricle that communicates with a

retrocerebellan cyst. There is hypo-
piasia of the inferior vermis and the
superior vermis is displaced into
the incisura. The third ventricle is
dilated (arrow). There is complete
absence of the corpus collosum.
(B) This Ti weighted transverse
MR image reveals the enlarged
fourth ventricle communicating
with the retnocenebellar cyst. The
cerebellar hemispheres are dis-
placed anteriorly and laterally by
the cyst.

ill. Disorders of Histogenesis

Histogenesis refers to the organization of A. NEUROFIBROMATOSIS

cells into tissues. Disorders of histogenesis in-
dude neoplasms and vascular malformations. Neurofibromatosis is the most common of
The phakomatoses are also related to abnon- the phakomatoses and may occur either spon-
mal histogenesis and include neurofibromato- taneously or from an autosomal dominant in-
sis and tubenous sclerosis. henitance with variable expressivity. In the cen-
tral nervous system, this disorder affects the
mesodermal and ectodermal tissues. Tradition-
ally, neurofibromatosis has been divided into
central and peripheral types with many cases
presenting findings of both groups. Recently,
the NIH Concensus Development Conference
has classified the disorder as neunofibromatosis
I (von Recklinghausen’s disease) and neunofi-
bromatosis 2 (bilateral acoustic neuromas).

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0
0
0
a
E Optic nerve pilocytic astrocytoma (glioma) on MRI or CT scanning are in asymptomatic
0 is one manifestation of central neurofibroma- patients (45). Apparently, when the gliomas in-
.0 tosis. It is the most common tumor in the cen- volve only the optic nerves, their signal intensi-
0 tral nervous system, being found in up to 30% ty is the same as that of adjacent brain on T2
3
of neunofibromatosis patients (12,31,45,55). It is weighted images. MRI is particularly useful in
z commonly bilateral, and in up to 25%, extends following the intracanalicular portions of the
into the optic chiasm, optic tracts and radia- optic nerves. Once the tumor involves the chi-
tions (Figures 17 and 18). Approximately 75% asm and other visual pathways, markedly in-
of these lesions are identified in the first de- creased signal intensity is identified on 12
cade of life. The majority of those discovered weighted imaging (1231,39,59).

hA
Figure 17
Neurofibromatosis (A) This Ti weighted trans-
verse MR image reveals bilaterally enlarged pre-
chiasmatic portions of the optic nerves (arrows).
There is also an off-midline signal void in the vermi-
an region which suggests an enlarged dysplastic
vessel, perhaps secondary to a vascular malforma-
tion (arrowhead). (B) A midsagittal image in the
same patient reveals an enlarged optic chiasm (an-
now). There is a typical “caput medusa” of a venous
angioma identified in the cerebellum (arrowhead).

Figure 18
Neurofibromatosis This T2 weighted transverse
A
MR image of the same patient as in Figure i 7, re- .-‘# L’ . s T
veals abnormal signal intensity bilaterally in the re- - 4’4%, k

gion of the optic tracts and lateral geniculate bodies

(arrows). This abnormal signal extends into the op- ;, . ,, .‘ I
tic radiations. . . ,.
-,,

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z
C
0
Most schwannomas in children are caused ing and greater than that of gray matter on T2
by neunofibromatosis. These may be solitary, weighted imaging. Patients with neurofibroma-
0
but they are often bilateral on multiple. Cranial tosis are also at greaten than normal risk of soli- 3
nerves ill-Xll may be affected, but most com- tary on multiple meningiomas. Both schwanno- 0
monly the eighth nerve and next most com- mas and meningiomas tend to occur in a 0
0
monly the fifth nerve are involved (Figure 19). younger age group in those patients with neun- 0

Forty to eighty percent of eighth nerve ofibromatosis than in those without, and intra-
schwannomas are bilateral (13,31). The signal ventricular meningioma is more common in
intensity of schwannomas is equal to on less these patients than in the general population.
than that of gray matter on TI weighted imag-

Figure 19
Neurofibromatosis (A) A Ti weighted coronal MR
image at the level of the internal auditory canals re-
veals bilateral acoustic schwannomas (arrow-
heads). The lesion on the patient’s right has a
large intracanalicular component, and the lesion on
the left compresses the brain stem and extends exo-
phyticaily into the cerebellopontine angle. (B) in the
expected position of the left fifth nerve, there is a
nodular mass which is suggestive of a schwannoma
(arrow i (C) A more anterior image suggests a
).

left third nerve schwannoma (arrow 2), and a mass

in the region of Meckel’s cave, encasing the vertical
portion of the right internal carotid artery which is
also likely to be a fifth nerve lesion (arrows 3). Any
one of these lesions could possibly be a meninglo-
ma.

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0
0
0
a Other tumors found in these patients with exact nature of these lesions is unclean. They
E
2 neunofibromatosis include brain stem gliomas, may represent dysplastic hamartomas and
.0 pilocytic astrocytomas of the hypothalamus, some cases may represent gliomatosis or dys-
0 ependymomas, and anachnoid cysts. A classic myelination(1213,39). It is also possible that
3
mesodermal change, which may be seen on some of these lesions may be secondary to
z MR1, includes hypoplasia of the sphenoid previous, asymptomatic occlusions of small
wings; this may create a temporal lobe ence- vessels (36). TI weighted MR images usually re-
phalocele, with or without exophthalmus. Vas- veal no abnormalities in these locations.
cular malformations are commonly found, and Dysplastic lesions within the brain, includ-
neurofibromatosis patients are at increased ing neunonal migrational abnormalities and
risk of spinal column abnormalities, including dural ectasia (notably of the internal auditory
gliomas, meningiomas, lateral meningoceles canals) may also be seen (66).
and neurofibromas (13) (Figure 20). A plexiform neurofibroma is pathognomonic
Multiple focal areas of abnormally in- of neurofibromatosis; it usually grows along the
creased signal intensity are found in the major- nerve of origin in a sheet-like extension with
ity of neurofibromatosis patients on T2 weight- compression of adjacent structures (14) (Fig-
ed images. These are free of mass effect and une 22). The signal intensity of these lesions is
commonly involve the globus pallidus, thala- greater than that of normal neural tissues on T2
mus, centrum semiovale, internal capsule, weighted images (63).
brain stem, and cerebellum (Figure 21). The

Figure 21
Neurofibromatosis This T2
weighted transverse MR image
shows multiple focal areas of ab-
normally high signal intensity in the
basal ganglia, thalami, the posteri-
on limb of the internal capsule and
other areas, including the regions
of the lateral geniculate bodies.
These may represent areas of glio-
matosis, dysplastic hamartomas,
atypical glial cells, or possibly pre-
viously unrecognized vascular in-
suits.
Figure 20
Neurofibromatosis This Ti
weighted sagittal MR image of the
thoracic spine reveals an intramed-
ullary astrocytoma with cystic
components (arrow). in the lower
cervical spine, there is a subtle en
plaque meningioma (arrowhead).

Figure 22
Piexiform neurofibroma This Ti weighted coronal
MR image reveals extension of a dumbbell lesion
through a neural fonamen (arrow) into the soft tis-
sues of the neck.

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B. TUBEROUS SCLEROSIS The multiple subependymal nodules are, in

fact, hamartomas composed of giant cells.
Tuberous sclerosis is an autosomal domi- They have MR relaxation times similar to that of
nant neunoectodermal disorder with a high white matter if they are not calcified. Calcifi-
rate of spontaneous mutation. It is character- cation of these lesions is better identified by
ized by a classic clinical triad of adenoma Se- CT than by MRI. These hamartomas (tubers)
baceum, seizures and mental retardation. The may inconsistently be seen as nodules that dis-
complete triad is seldom seen at the time of tort the cortical architecture, on they may be
presentation, however. Other classical findings identified in the subcortical and deep white
include subungual fibnomas, cardiac nhabdo- matter where they may be calcified or have a
myomas, and renal angiomyolipomas. Hamar- cystic component (Figure 23). These lesions
tomas of the brain are present in every case. are frequently and characteristically of high
There are several characteristic central signal intensity on T2 weighted MR imaging. On
nervous system findings in tubenous sclerosis, in- TI weighted imaging, their signal intensities
cluding subependymal nodules, cortical ha- are equal to or less than that of white matter
martomas, white matter abnormalities, giant (13,32,40,43,50,52,64) (Figure 24). This finding of
cell astnocytomas, and ventricular dilatation
(13,52).

weighted F... image reveals a calcified age reveals the low intensity of the subcon-
subependymal nodule in the anterior tical hamartomas on short TR, short TE (Ti
horn ofthe lateral ventricle on the left, weighted) images (arrows).
a lange calcified subcortical lesion
(hamartoma) on the right and at least
two areas of abnormally high signal
intensity in the subcortical white mat-
ten (arrows).

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0
0
0

U
multiple confluent and focal areas of abnor- cells within the white matter may be oriented
(I)
0
mally high signal intensity on T2 weighted im- in a radial distribution and seen to extend from
3
0
aging is characteristic of tuberous sclerosis. the subcortical region to the ventricle (13)
Hamartomas are postulated to have this ele- (Figure 25). It is possible that some of these le-
.0
3
vated signal on T2 weighted imaging because sions may be secondary to small vessel occlu-
I.- of associated fibrillany gliosis on demyeiination sive disease (36) on rarely small gliomas.
(13,40,50,52,64). Clusters of hetenotopic giant

Figure 25
Tuberous sclerosis (A) At this level on a trans-
verse T2 weighted MR image, cortical and subcorti-
cal areas of abnormal signal intensity are identified
in the left frontal region, both temporal lobes, and
both cerebellan hemispheres (arrows). (B) At this
higher level, a large number of hyperintense lesions
are again identified. Note the lesions of high signal
intensity radiating from the subcortical region toward
the ventricles (arrows), and the signal voids of cal-
cified subependymal nodules. (C) At a still higher
level in the same patient, more confluent subcortical
white matter abnormalities are identified.

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-S

.
Subependymal nodules (Figure 26) may 0
C
degenerate into giant cell astnocytomas in up 0
(I)
to 10% of tuberous sclerosis patients. These 0
are located most frequently at the foramen of
0
Monro where they cause obstructive hydro- 0
cephalus. The conversion of a subependymal 0

nodule into a giant cell astrocytoma may be

heralded by an increase in MR signal intensity
on T2 weighted images, just as these lesions
are identified on CT by their contrast enhance-
ment (13). Ventricular dilatation may also de-
velop secondary to “dysplasia” (52).
Although the number of subependymal
nodules and the presence of ventricular dila-
tation are unrelated to mental status, there is Figure 26
a suggestion that the number of peripheral le- Tuberous sclerosis This Ti weighted transverse
sions, identified on MRI, is related to the clinical MR image of a 5 month old male infant reveals sub-
ependymal nodules probably representing noncalci-
severity of the disease (13,40).
fied hamartomas. There is also an area of abnormal-
ly low signal intensity in the periventnicular white
C. HYDRANENCEPHALY matter on the left (arrow). (Some periventnicular
high intensity artifact is present.)
Hydranencephaly may be an agenetic or
encephaloclastic central nervous system disor-
den manifested by replacement of the cere-
bnal hemispheres by a thin membranous sac
filled with cerebrospinal fluid and necrotic de-
bnis (19,30,34). The sac represents the relatively
intact leptomeninges and atrophic glial cells
(Figure 27A).

Figure 27A
4,
Hydranencephaiy (A) This parasagittal image re-
veals a fluid filled supratentonial space with relative “5
preservation of the posterior fossa structures and
portions of the occipital lobe. (The supratentorial
space is filled with necrotic debris.)

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a
.C
0.
It has been generally believed that this en- ternal syphilis, cytomegalovinus, Herpes sim-
U
C tity reflects infarction of the supraclinoid inter- plex, toxoplasmosis, and ionizing radiation
C nal carotid arteries, with on without concomi- (18,29,27). In primary hydnanencephaly, the
a tant encephalitis. There are many cases in noxious event apparently affects the brain af-
>1 which these arteries are patent, however, em- ten normal ventral induction and diverticula-
phasizing the diversity of events that may cul- tion (3-6 months); whereas, encephaloclastic
minate in the final morphologic picture (34). hydnanencephaly occurs later. Its occurrence
The vertebral artery system is relatively intact at 3-6 months on later would account for the
in hydranencephaly. As a result, there is usually presence of the falx in hydranencephaly,
significant preservation of posterior fossa struc- which indicates prior cleavage of the telence-
tunes and of the inferior, posterior portions of phalic vesicles into cerebral hemispheres, and
the temporal and occipital lobes (Figure 27A). it is also consistent with the presence of some
The brain stem may be atrophic histologically. residual cerebral cortex (27,61) (Figures 27 C
Characteristically, small round unfused thalam- and D). There may be a spectrum of destruc-
Ic remnants are seen (25,61) (Figure 27B). tion ranging from hydranencephaly to multi-
There are a multitude of agents reported to be cystic encephalomalacia (68) (Figure 28).
responsible for hydnanencephaly including ma-

Figure 27B-D
(B) This transverse image reveals the charactenis-
tic rounded, unfused thalamic masses (arrow-
heads). (C) On a more superior image, portions of
the occipital lobe are identified outlining the posteni-
or aspect of the falx. (D) This transverse CT scan, in
the same patient, better defines the faix, which
helps to differentiate the fluid filled supratentonial
space of hydranencephaly from the dorsal cyst of
holoprosencephaly.

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0.
0
3
.
3
0
.
.5
3.
0

ncephalociastic hydranencephaiy vs muiticystic encephaiomaiacia

Sagiffal and coronal Ti weighted MR images reveal resorption of the
supratentorial parenchyma with a few scattered septations, preserva-
tion of the posterior fossa structures, and presence of the falx. The
findings are similar to those seen in Figure i 2. This child had enceph-
alitis as an infant, and serial CT scans (not shown) demonstrated pro-
gressive cystic destruction to this final endpoint. This suggests that a
spectrum of destructive processes between encephaloclastic hydran-
encephaly and multicystic encephalomalacia may exist.

IV. Disorders of Migration These clefts are defined by a piai-ependymal

seam that may be fused (Type I) (Figure 29) or
Successive waves of primitive neurobiasts open and separate and filled with cerebrospi-
migrate from the germinal matrix to form the nal fluid (Type II) (Figure 30). These clefts are
cerebral cortex and deep nuclei of the brain characteristically lined by heterotopic gray
between two and four months of gestation matter, which differentiates this entity from
(70-7277). Schizencephaly, polymicrogyria, porencephaly. These clefts are usually bilater-
pachygyria, lissencephaly, and simple gray al and symmetric, but may be asymmetric or
matter heterotopias are all interrelated disor- unilateral (6,7,11,58,73,77). They usually occur
dens that have in common abnormal migration close to the central or Sylvian fissures and may
of neuroblasts from the germinal matrix. This ne- be vertically or horizontally oriented. They
suits in abnormal arrangement and thickness may, therefore, escape detection if studied in
of the layered proliferative zones of the brain only one imaging plane (6). There is often as-
(6,58,77). sociated absence of the septum peliucidum
Schizencephaly is characterized by clefts and part of the corpus callosum, especially in
that extend from the subarachnoid space to the open cleft variety (10,17). Care must be
the subependyma of the ventricles. A working taken to identify the contiguity of the cleft
theory of the development of schizencephaly with the ventricle, since reportedly large areas
suggests that there is a segmental failure of of heterotopic gray matter with an anomalous
growth of the neuroblasts of the affected vessel may mimic this condition on MRI 9,).
area, leading to a holohemisphenic cleft.

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0
a

0
0
.
0
0

Figure 29
Type I Schizencephaiy (A) A transverse CT scan after contrast en-
hancement, in a child with a seizure disorder and congenital hemipa-
nesis reveals a lobulated area of moderate attenuation similar to that of
the gray maffer, in the left centrum semiovale (arrow). (B&C) Contig-
uous transverse proton density MR images in the same patient, and at
a similar level, show the lobulated mass on the left to have the same
signal intensity as the gray matter, suggesting heterotopia. A close
lipped cleft is defined by the signal void of an anomalous vessel (B,
arrow). The cleft does not definitely communicate with the ventricle
on these images. The adjacent area of low signal intensity is a biopsy
site (B, arrowhead). There are scattered areas of abnormally high sig-
nal intensity in the deep white matter probably representing gliosis.
(D) A Ti weighted coronal MR image suggests that the closed cleft
communicates with the left lateral ventricle (arrowheads). The hetero-
topic gray matter lining the cleft distorts the ventricle.

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0
0.

0
0

0
0
3
,

Figure 30
Type Ii Schizencephaiy (A&B) These noncontiguous transverse Ti
weighted MR images reveal bilateral, slightly asymmetric, clefts in the
frontopanietal regions. They are “open lipped” and appear to commu-
nicate with the enlarged ventricular atria. The clefts are lined by het-
erotopic gray maffer (A, arrows). On the more superior image (B) a
primitive limiting membrane is identified, but it appears discontinuous
(arrowhead). This membrane is likely composed of the primitive
ependyma and pia which are fused. (C) This coronal Ti weighted MR
image reveals the cleft on the patient’s night side. A large area of pa-
chygynic cortex is noted on the opposite side (arrow). There is also
absence of the septum peilucidum, with inferior pointing of the frontal
horns.

,‘
. L1,,..

30C

Agynia and pachygnia (lissencephaly) refer tions of the brain. The complement of white
to a fiat, smooth brain surface caused by the matter is significantly thinned, leading to the
absence of cortical gyni. This is the most severe absence of intendigitation at the gray-white
of the neuronal migrational disorders. The etio- matter junction and hypoplasia of the white
logic insult occurs at about eight weeks of matter tracts including the corticospinal tract
gestation. Specifically, pachygynia refers to (Figure 31). The decreased development of
multiple areas of broad, flat, shallow gyni. A to- the corticospinal tract may be recognized in
tally agynic brain is a rarity, and most cases dis- midsagittal imaging by the decrease in the
play mixed areas of agynia and pachygynia; size of the brain stem. Hetenotopias are corn-
the difference between the two entities being rnonly recognized within the thinned white
merely one of severity. In these conditions, the matter, especially near the corners of the lat-
cortex is abnormally thick, and there is failure eral ventricles (6,16,24,58,77).
of operculization of the insular cortex. As a re- Bankovich has described a thin band of
suIt, the Sylvian fissures are shallow, creating a high signal intensity on 12 weighted imaging
so-called “figure of 8” deformity. The temporal within the thickened cortex which is believed
lobes tend to be less involved than other por- to represent an area of laminar necrosis (6).

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C
0
a
Figure 31
Agyria and pachygyria This T2 weighted coronal
0
MR image reveals thickened agynic cortex in the pan-
0 etal lobe of the right cerebral hemisphere. Note the
.
.5 thinned subcortical white maffer, with failure of inter-
digitation of white matter fibers. In the left hemi-
0
0 sphere, there is a large area of pachygyric cortex
(arrow) superiorly with a more normal appearance
of folded cortex and subcortical white matter infeni-
only.

Polymicnogynia is characterized by exces- cause, in a sense, dysgenesis of the corpus

sive thickness and by excessively numerous callosum results not only from abnormal induc-
convolutions of the cerebral cortex. In this ie- tion but from migration of cells and their axons
sion, the cortex is histologically abnormal. The away from the midline on paramidline regions.
disorder is commonly found at necropsy asso- it is also very commonly associated with neur-
ciated with more generalized anomalies such oblast migrational disorders (schizencephaly,
as the Chiani II malformation on schizencephaly. lissencephaly, etc.) Not all authors would clas-
The numerous tiny gyri may fuse, paradoxically sify dysgenesis of the corpus callosum in this way.
giving an impression of smooth cortex (6,58). Normally, axons from the cerebral hemi-
Stenogynia, by contrast, is also characterized spheres enter the commissural plate region
by an excessive number of gyni, but in steno- and cross to the opposite side. Failure of de-
gynia they are histologically normal. Stenogynia velopment of the corpus caliosum prevents
is also reported to occur in Chiani II malfonma- the crossing of the axonal fibers. As a result,
tions (76). they continue along the medial walls of the
lateral ventricles as bundles that terminate
randomly in the occipital and temporal lobes.
V. Dysgenesis of the Corpus Caliosum These are called the bundles of Probst (42). A
constellation of findings results from these ba-
The corpus callosum is the largest white sic defects, and the deformities found in this
matter commissune connecting the two cere- entity vary depending on whether caliosal ab-
bnal hemispheres. Its embryogenesis is corn- sence is partial on complete.
plex, but complete callosal presence appears With complete dysgenesis, the absence of
to be dependent upon the successful closure the corpus callosum can be easily identified in
of the anterior neunopone and the induction of all planes of imaging. On midsagittal imaging,
the precursors of the commissural plate (i.e., it creates circumferentially radiating gyri per-
the massa commissunalis) from the rostral wail pendiculan to the third ventricle in a “sunburst”
of the telecephalon (the primitive lamina ten- pattern. There is failure of normal conver-
minalis) (8,33,42,70,72). Since the corpus callo- gence of the calcanine and panietooccipital
sum is developed in the region of the commis- suici. The cingulate gyrus is not identifiable on
sunal plate by 12 to 13 weeks of gestation, in- midsagittal imaging because it has rotated in-
suIts to its precursors must occur earlier than 12 feniorly and laterally (everted) (Figures 32 and
weeks for absence to be complete. This dison- 33). One may also note elevated internal cer-
den is included with migrational disturbances ebral veins and “wandering” anterior cerebral
by van den Knaap and Valk presumably be- artery branches (3,8,33,42).

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0
0
‘a
C
0
0
0
0
0
C
3
a
1<

3
.0
0

I_. 32
Dysgenesis of the corpus caiio-
sum This Ti weighted midsagittal
MR image reveals complete absence
of the corpus callosum, and absence
of the cingulate gyrus in the midsagit-
tal plane. The cingulate and pericallo-
sal sulci are also absent. The adjacent
cortical gyri are radiating in a “sun-
burst” paffern perpendicular to the di-
lated third ventricle (arrows). The cal-
carine and parietooccipital sulci fail to
converge and are not distinct.
F
Dysgenesis of the corpus callo-
sum A parasagittal MR image in the
same patient as in Figure 32 reveals a
fenestrated fornix (arrow) and an
everted cingulate gynus, bulging into
the lateral ventricle anteriorly (arrow-
head) off the midline.

Coronal and axial imaging reveals that the

lateral ventricles are widely separated and
may be infeniorly pointed. The Probst-bundie-
cingulate gyrus-fornix complex medially, in-
dents the lateral ventricles creating a con-
cave “Viking helmet” deformity (33) (Figure
34). This is best seen anteriorly where the fibers
are thickest. The thalami are widely spaced
secondary to a dilated third ventricle, which is
interposed between the lateral ventricles and
is in continuity with the interhemisphenic fissure
(Figure 35). A cyst, which may be the dilated Figure 34
third ventricle or an arachnoid cyst, is found in Dysgenesis of the corpus caiio-
the interhemisphenic fissure in up to 30% of sum This Ti weighted coronal
cases (67). The development of the limbic sys- MR image reveals a typical “Viking
tern is intimately related to the development helmet” deformity of the lateral
ventricles. The medial concavity is
of the corpus callosum and, therefore, associ-
created by the impression of the
ated malformations include focal narrowing of
inferionly and laterally notated cm-
the cingulum; hypoplasia of the fornix and sep- gulate gyri and the Probst bun-
turn pellucidum; and hypoplasia of the hippo- die-fonnix complex (arrow). The
campal formations, creating patulous tempo- interhemisphenic fissure extends
ral horns with a “keyhole” deformity (Figure to the dilated and elevated third
36). The anterior commissune is usually hypo- ventricle.

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al.

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0
.
C
.
0
>1

E
3
0
0
a
0
0
3
0.
0
0

Figure 35 Dysgenesis of the corpus callo-

Dysgenesis of the corpus cailo- sum This proton density trans-
sum This T2 weighted transverse verse MR image reveals the so
MR image, in a patient with almost called “keyhole deformity” of the
complete absence of the corpus temporal horns secondary to hypo-
cailosum, reveals the Probst bun- plasia of the hippocampal forma-
dies lining the medial aspects of tion (arrow).
the lateral ventricles (arrows).
There is preferential enlargement
of the occipital horns of the lateral
ventricles which are separated.
The third ventricle is in a high posi-
tion interposed between the lateral
ventricles.

plastic, but rarely may be enlarged (3,8,4255).

Colpocephaly is present owing to the lack of
support of the splenium of the corpus callo-
sum. Figure 37
Although complete absence of the corpus Dysgenesis of the corpus callo-
caliosum, may occur in isolation, associated sum This Ti weighted midsagit-
anomalies occur in 80-90% of cases (3,8). In tal MR image reveals the absence
those patients with central nervous system of the corpus cailosum posteriorly,
anomalies, the corpus callosum is absent in up with a very bright posterior nodule
to 50% (8). These associated anomalies in- in the midline above the cerebel-
lum, representing a lipoma. Most
dude Dandy-Walker syndrome (Figure 16),
central nervous system lipomas
Chiari I and Chiani II malformations, neuronal occur within the intenhemisphenic
migrational disorders, basal encephaloceles, fissure adjacent to a partially ab-
holoprosencephaly, midline central nervous sent corpus callosum. Occasional-
system lipomas (Figure 31), posterior fossa ly, a lipoma may reside within the
cysts, facial clefts, and various metabolic dis- quadnigeminal plate cistern as in
orders (8,20,2242). this case.

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Summary

Magnetic resonance imaging has be- and, therefore, will likely be encountered in
come the imaging procedure of choice in the even the smallest imaging practice. We have
evaluation of congenital central nervous sys- reviewed the recent literature and presented
tem anomalies. Even though a given anomaly representative cases to illustrate the scope of
may itself be rare, central nervous system these pathologic conditions.
anomalies on the whole are not uncommon

References

I . Aboulezz AO. Sartor K. Geyer CA. Godo MH. PositIon of cerebellor tonsils In 27. Foerber EN. CranIal computed tomography In Infants and children. PhIIa-
tire normal populatIon and in patients with chianl malformatIon: A quantl- deiphia: Lippincoff. 1986; 42-81.
tafive approach wIth MR. J Compuf Assist Tomogr 1985: 9:1033-1036. 28. FItz CR. MIdlIne anomalies of the brain and spine. ROdIOI ClIn North Am
2. Altman NR. Altman DH. Sheldon JJ. Leboegne J. Holoprosencephaly classi- 1982; 20:95-104.
fled by computed tomography. AJNR 1984; 5:433-437. 29. Fltz CR. Holoprosencephaly and related entitles. Neuroradlology 1983;
3. Atlas SW. Zimmerman RA. Bilaniuk LI. et at. Corpus callosum and lImbIc sys- 25:225-238.
tern: Neuroanatomlc MR evaluation of developmental anomalIes. Radlol- 30. Fowler M. Dow R. WhIte TA. et 01, CongenItal hydrocepholus-hydronence-
ogy 1986; loO:355-362. phaly In fIve siblIngs. with autopsy studIes: A new dIsease. Dev Med ChIld
4. Bamberger-Bozo C. Ihe ChIarl II malformation: Arnold Chiarl of the Iltera- Neurol 1972; 14:173-188.
ture. J Neuroradiot 1982; 9:47-70. 31. Gardeur D. Palmierl A. Mashaly R. Cranial computed tomography In the
5. Barkovich AJ. Wlppold FJ. Sherman JL. Cltrln CM. SignifIcance of cerebellar phakomatoses. Neuorodlology 1983; 25:293-304.
tonslllar posItion on MR. AJNR 1986: 7:795-799. 32. Garrlck R. Gomez MR. Houser OW. Demyellnatlon of the brain In tuberous
6. Barkovich AJ. Chuang SH. Norman D. MR of neuronal rnigratlon anomalIes. sclerosis: Computed tomography evIdence. Mayo ClIn Proc 1979; 54:685-
AJNR 1987; 8:1009-1017. 689.
7. Barkovich AJ. Norman D. MR ImagIng of schlzencephaty. AJNR 1988; 33. Gulbert-Tranler F. Plton J. Bilierey J. Collie JM. Agenesis of the corpus collo-
9:297-302. sum. J Neuroradlol 1982; 9:135-160.
8. Barkovlch AJ. Norman D. Anomalies of the corpus callosurn: Correlation 34. Halsey JH Jr. Allen N. ChamberlIn HR. Morphogenesis of hydronencephaly.
with further anomalies of the brain. AJNR 1988; 9:493-501. J Neural Sd 1971; 12:187-217.
9. Barkovlch AJ. Abnormal vascular drainage In anomalies of neuronal migro- 35. Hart MN. Molamud N. Ellis WG. The Dandy-Woilcer syndrome: A cllnlcopath-
tion. AJNR 1988; 9:939-942. ologicol study based on 28 cases. Neurology 1972; 22:771-780.
10. Barkovich AJ. Norman D. Absence of the septum pellucidum: A useful sign 36. Hllal SK. Solomon GE. Gold AP. et 01, PrImary cerebral arterIal occlusive dls-
in the diagnosis of congenital brain malformations. AJNR 1988; 9:1107- ease In children. II. Neurocutaneous syndromes. Radiology 197 1; 99:87-94,
1114. 37. Hirsch JF. PIerre-Kahn A. Renler D. Salnte-Rose C. Hoppe-Hlrsch E. The Don-
I I . Bird CR. Gilles FH. Type I schizencephaly: CI and neuropathologic findings. dy-Walker malformation: A review of 40 cases. J Neurosurg 1984; 61:515-
AJNR 1987; 8:451-454. 522.
12. Bognanno JR. Edwards MK. Lee TA. et al. Cranial MR imaging In neuroflbro- 38. Halt JF. Neuroflbromafosis In children. AJR 1978; 130:615-639.
matosis. AJNR 1988; 9:461-648. 39. Hurst RW. Newman SA. Coil WS. Multlfocal IntracranIal MR abnormalIties In
13. Braffman BH. Bilaniuk LI. Zimmerman RA: The central nervous system mani- neuroflbromatosis. AJNR 1988; 9:293-296.
festatlons of the phakomatoses on MR. Radlol Ctln North Am 1988; 26:773- 40. lnoue V. Nokajlma S. Fukuda I. et 01. MagnetIc resonance Images of tu-
800. berous sclerosis. Neuroradlology 1988; 30:379-384.
14. Burk DL Jr. Brunberg JA. Kanal E. Latchaw RE. Wolf GL. Spinal and para- 41. Kallfa GL. Chiron C. Seiller N. ci at. Hemimegalencepholy: MR Imaging In
spinal neuroflbromatosis: Surface coil MR imaging at I .5 1. Radiology 1987; five children. RadIOlOgy 1987; 165:29-33.
162:797-801. 42. Kendall BE. Dysgenesis of the corpus callosum. Neurorodlology 1983;
15. Byrd SE. Harwood-Nash DC. Fltz CR. Rogovltz DM. Computed tomography 25:239-256.
In the evaluation of encephaloceles in infants and children. J Comput As- 43. Kingsley ORE. Kendall BE. Fltz CR. Tuberous sclerosis: A cllnicorodlologlcal
51st Tomogr 1978; 2:81-87. evaluation of I 10 cases wIth particular reference to atypical presento-
16. Byrd SE. Bohon TP. Osborn RE. Naldich TP. CT and MR evaluation of lissen- tion. Neurorodiology 1986; 28:38-46.
cephaly. AJNR 1988; 9:923-927. 44. Krause-Brucker W. Gardner DW. Optic nerve hypopiaslo associated wIth
17, Byrd SE. Naldich TP. Common congenital brain anomalies. Radlol Clin absent septum pellucidum and hypopltultarism. Am J Ophtholmol 1980:
North Am 1988; 26:755-772. 89:113-120.
18. ChrIstie JD. Rakusan IA. Martinez MA. et at. Hydranencephaly caused by 45. LewIs RA. Gerson LP. Axelson KA. Riccardl VM. Whitford RP. Von Reckling-
congenital Infection with herpes simplex virus. Pediatr Infect Dis 1986; hausen neuroflbromatosis. I. Incidence of optic gliomata. Ophthalmology
5:473-478. 1984: 91:929-935.
19. Crome L. Hydranencephaly. Dev Med Child Neurol 1972; 14:224-226. 46. LewIs IT. Kingsley DPE. Magnetic resonance Imaging of multiple spinal
20. Curnes JT. Laster DW. Koubek ID. Moody DM. Ball MR. Wltcofski RL. MRI of neuroflbromato-neuroflbromatosls. Neuroradlology 1987: 29:562-564.
corpus callosal syndromes. AJNR 1986; 7:617-622. 47. Lourle GL. Osborne DR. Klrks DR. Involvement of posterIor visual pathways
21. Davidson HD; Abraham R; Steiner RE. Agenesis of the corpus callosum: by optic nerve gliomas. Pedlatr Rodlol 1986: 16:271-274.
Magnetic resonance Imaging. Radiology 1985; 155:371-373. 48. Manelfe C. Rochiccioli P. CT of septo-optic dysplasla. AJR 1979: 133:1157-
22. Dean B. Drayer BP. Beresini DC. et 01. MR imaging of pericallosal lipoma. 1160.
AJNR 1988; 9:929-931. 49, Manetfe C. Sevely A. Neurorodiological study of holoprosencepholies. J
23. Diebler C. Dulac 0. Cephaloceles: Clinical and neuroradlological appear- Neurorodlol 1982: 9:15-45.
once-associated cerebral malformations. Neuroradiology 1983; 25:199- 50. MartIn N. de Broucker T. Cambier J. Marsault C. Nahum H. MRI evaluation
216. of tuberous sclerosis. Neurorodiology 1987: 29:437-443.
24. Dobyns WB. McCluggage CW. Computed tomographic appearance of 51. Mayer JS. Kulkarni MV. yeakley JW. Craniocervlcal manIfestatIons of neur-
lissencephaly syndromes. AJNR 1985; 6:545-550. ofibromotosis: MR versus CT studies. J Comput Assist Tomogr 1987: 11:839-
25. Dublin AB. French BN. Diagnostic image evaluation of hydranencephaly 844.
and pictorially similar entitles. with emphasis on computed tomography. 52. McMurdo 5K Jr. Moore 5G. Brandt-Zawodzkl M. et 01. MR Imaging of intro-
Radiology 1980; 137:81-91. cranial tuberous sclerosis. AJNR 1987; 8:77-82.
26. El Gammal I. Mark EK. Brooks BS. MR imaging of Chiarl II malformation. 53, Noidich TP: Cranial CT signs of the Chiorl II malformation. J Neuroradiol
AJNR 1987; 8:1037-1044. 1981; 8:207-227.

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54. Noidich TP. McLone DG. Fulling KH. The Chiari II malformation. Part IV. The 67. Sarwar M, Virapongse C. Bhimani S. Freilich M. lnterhemispherlc fissure sign
hindbroin deformity. Neurorodiology 1983; 25:179-197. of dysgenesis of the corpus callosum. J Comput Assist Tomogr 1984;
. 55. Naidich TP. Zimmerman RA. Common congenital malformations of the 8:637-644.
brain. In: Brondt-Zawedzki M.. Norman D.. eds. Magnetic resonance imog- 68. SchmItt HP. Multicystic encephalopathy-a polyetlologlc condition in ear-
Ing of the central nervous system. New York: Raven Press. 1987: 131-151. ly Infancy: Morphologic. pathogenetic and clinical aspects. Brain 0ev
56. Naidich TP. Radkowskl MA. Berstein RA. Ian WS. Congenital malformations 1984; 6:1-9.
of the posterior fossa. In: Toveras JM. Ferrucci JT. eds. Radiology. Vol 3. 69. SpInos E. Laster OW. Moody DM. Ball MR. Wltcofskl RL. Kelly DL Jr. MR evalu-
Philadelphia: Lipplncott. 1988; 1-17. atlon of Chiari I malformations at 0. 151. AJNR 1985; 6:203-208.
57. Nyberg DA. Mack LA. Bronstein A. Hirsch J. Pogon RA. Holoprosencephaly: 70. Iuchman-Duplessls H. Auroux M. Haegel P. Human embryology. Nervous
prenatal sonographic diagnosis. AJNR 1987:8:871-878. system and endocrine glands. New York: Springer-Verlag. 1975.
58. Osbom RE. Byrd SE. Naldich TP. Bohan TP. Friedman H. MR Imaging of neu- 71. Von der Knaap MS. Valk J. Classification of congenital abnormalities of
ronol migrational disorders. AJNR 1988; 9:1101-1106. the CNS. AJNR 1988; 9:315-326.
59. Pomeronz SJ. Shelton JJ. Tobias J. Soila K. Altman D. Viamonte M. MR of vi- 72. Volpe JJ. Normal and abnormal human brain development. Clin Perinatol
suol pathways In patients with neurofibromatosis. AJNR 1987: 8:831-836. 1977; 4:3-30.
60. Raybaud C. Cystic malformations of the posterior fossa: Abnormalities as- 73. Williams JP. Blalock CP. Dunaway CL. Cholhub EG. Schizencephaly. CT
sociated with the development of the roof of the fourth ventricle and ad- 1983; 7:135-139.
Jocent meningeal structures. J Neuroradiol 1982:9:103-133. 74. WIlson DM. Enzmann DR. Hintz RL. Rosenfeld G. Computed tomogrophic
61. Rayboud C. Destructive lesions of the brain. Neurorodiology 1983; 25:265- findings In septo-optic dysplasia: Discordance between clinical and radio-
29l. logical findings. Neurorodlology 1984; 26:279-283.
62. Relnarz SJ. Coffman CE. Smoker WR. Godersky JC. MR Imaging of the cor- 75. Wolfson BJ. Foerber EN, Truex RC Jr. The ‘keyhole”: A sign of herniation of
pus catlosum: Normal and pathologic findings and correlation with CI. a trapped fourth ventricle and other posterior fossa cysts. AJNR 1987:
AJNR 1988; 9:649-656. 8:473-477.
63. Rlccardi VM. Von Reckllnghausen neurofibromatosis. N Engi J Med 1981; 76. Wolpert SM. Anderson M. Scott RM. Kwan ES. Runge VM. Chiarl If molforma-
305:1617-1627. tlon: MR ImagIng evaluatIon. AJNR 1987; 8:783-792.
64. Roach ES. Williams WP. Laster DW. Magnetic resonance imaging in tuber- 77. Zimmerman RA. Bilonluk LI. Grossman RI. Computed tomography In migra-
ous sclerosis. Arch Neurol 1987; 44:301-303. tory disorders of human development. Neuroradlology 1983; 25:257-263.
65. Samuelson L. Bergstrom K. Thomas KA. Hemmingsson A. Wallensten R. MR 78. ZImmerman RA. Bilonink LI. Pediatric central nervous system. In: Stork DO;
imaging of syrlngohydromyelia and Chiari malformations in myelomenin- Brodley WG. Magnetic resonance imaging. St. Louis: Mosby. 1988.
gocele patients with scollosis. AJNR 1987; 8:539-546.
66. Sarwar M. Swlschuck LE. Bilateral Internal auditory canal enlargement due
to dural ectasia in neurofibromatosis. AJR 1977; 129:935-936.

We wish to thank Anthony J. Pileggi. M.D.. and Thomas M. Yarnell. M.D. for their as-
sistance in studying the subjects In Figures 30 and 16 respectively.
We also would like to thank the Department of Medical Photography, supervised
by Joseph Mentrikoski. and the Medical Transcriptionists. supervised by Lisa Kanour for
their assistance in the preparation of this manuscript.

826 RadioGraphics September,

#{149} 1989 #{149} Volume 9, Number 5