CONGENITAL BRAIN

ANOMALIES

DR. DEV LAKHERA

• Embryology

• Hindbrain Herniations /Malformations

• Disorders of Commissural development

• Disorders of Cortical development

• Disorders of Diverticulation/Cleavage
DEVELOPMENT OF THE CENTRAL NERVOUS SYSTEM

• EARLY (>3rd wk): NEURULATION NEURAL TUBE CLOSURE

NEURONAL PROLIFERATION MIGRATION

• LATER (>11th wk): OPERCULIZATION, GYRAL AND SULCAL DEVELOPMENT

CNS DEVELOPMENT
NEURONAL
PROLIFERATION
AND
MIGRATION

Peak migration 11-15 wks

Posterior fossa herniation/malformations

• CHIARI MALFORMATION

• DANDY WALKER MALFORMATION

• MEGA CISTERNA MAGNA

• RHOMBOENCEPHALOSYNAPSIS

• JOUBERT’S SYNDROME
CHIARI MALFORMATION- I

• Herniation of cerebellar tonsils into cervical canal

• Incidental (50 % asymptomatic)

• Valsalva-induced suboccipital headache, neck pain

 IMAGING FEATURES

• Elongated, peg-shaped cerebellar tonsils

• Tonsillar descent below basion-opisthion line

• Diminished/absent CSF flow at posterior FM

• Crowded foramen magnum

 Associated conditions

 Hydrocephalus in up to 30% of cases-

 In ~35% -associated skeletal anomalies :

 platybasia/basilar invagination/reduced clival

length

 atlanto-occipital assimilation

 syndromic associations

Klippel-Feil syndrome, Achondroplasia, Marfans

CHIARI II

• Complex hindbrain malformation with myelomeningocele

Etiology
• Posterior neuropore closure disorder
• Paraxial mesodermal abnormalities
IMAGING

• Small posterior fossa

• Inferiorly displaced medulla, vermis

• “Straw shaped” fourth ventricle

• Prominent massa intermedia

o Lacunar skull
o Abnormal dura (gaping FM, fenestrated falx)
o o “Towering” and “creeping” cerebellum
 Chiari malformation
type III

o Small posterior fossa

o Caudally displaced brainstem
o Low occipital or upper cervical bony defect
o Cephalocele with herniation of meninges,
dysplastic brain, ventricles
Hindbrain Malformations
Dandy-Walker Spectrum

•Dandy-Walker malformation (“classic”)

•Dandy-Walker variant

• isolated inferior vermian hypoplasia

•Persistent Blake pouch cyst (BPC)

•Mega cisterna magna (MCM)

 CLASSIC DANDY WALKER ON
MRI

 Large posterior fossa (PF)

 Cyst extending posteriorly from fourth ventricle

 Variable vermian, cerebellar hypoplasia

 High-inserting venous confluence

BLAKE POUCH CYST MEGA CISTERNA MAGNA
 Dandy-Walker variant
Hypoplastic Rotated Vermis
 PF normal size
 “Keyhole” opening of fourth ventricle

Differential Retro-cerebellar arachnoid cyst

 No communication with 4th ventricle

 DWM DWV Persistent Mega cisterna
Blake’s pouch magna
protrusion of the
fourth ventricle
through the
foramen of
Magendie
Retro-cerebellar cyst
Vermis Hypo-plastic Hypo-plastic No or mild No or mild
Rotated upwards hypoplasia hypoplasia
4th ventricle Markedly dilated Dilated Dilated Normal

Posterior fossa Expanded Normal size Normal size Normal size

hydrocephalus 75 % of cases 25% of cases Present No

 Rhombencephalosynapsis

• Midline brain malformation

• Absent cerebellar vermis
• Apparent fusion of the cerebellar
hemispheres

• VACTERL association
Joubert’s Syndrome (Congenital Vermian Hypoplasia)

• AR syndrome

• Associated ocular, renal , digital anomalies may be seen

IMAGING
Commissural maldevelopment

Major Commissures

 Corpus callosum (13th wk)

 Anterior (8th wk)

 Posterior (11th wk)

Incidental, Seizure disorder,

Developmental disorder
 Corpus Callosum agenesis

Common congenital brain disorder

Corpus callosum
agenesis

Complete corpus Partial corpus

callosum agensis callosum agenesis

Splenium &
rostrum absent

Genu & body

present
 COMPLETE
AGENESIS
Complete absence of corpus callosum
(CC) = agenesis
o Hippocampal commissure (HC) absent
o Anterior commissure (AC) often present
 IMAGING

Coronal

o “Viking helmet” or “moose head”

appearance

o “High-riding” third ventricle

o Probst bundles
Axial
• o Parallel lateral ventricles
• nonconverging, widely separated
 Malformations of Cortical Development

Abn Glial
Abn Neuronal migration Abn Postmigration development
proliferation/apoptosis

• Microcephaly • Heterotropia • Polymicrogyria

• Megalencephaly • Lissencephaly spectrum • Schizencephaly
• Cortical dysgenesis • Focal cortical dysplasia
Malformations Secondary to Glial/Neuronal Proliferation or Apoptosis

Microcephaly

Primary- genetic
Secondary –Infection. Ischemia, Maternal DM, Trauma

Imaging
Small cranial vault
Closely opposed sutures
Cortex may be normal or show simplified gyration
 Hemimegaloencephaly

Enlarged right
hemisphere, hemicranium
Enlarged WM in the
corona radiata
Hyperintense WM
Abnormal Neuronal migration

Heterotopias:
- Characterized by the presence of normal neurons at abnormal sites

Nodular type(common) Diffuse(uncommon)

Subependymal/ Periventricular Lissencephaly

Subcortical Band type

-Nodular type:

Focal subependymal nodules - indent the ventricular wall

Diffuse subependymal nodules - border the walls of the lateral ventricle.

Do not enhance on administration of intravenous contrast.

Subcortical
heterotropia

focal subcortical mass of heterotopic

gray matter

Thin overlying cortex

Band Heterotopia

Double cortex syndrome

Affects Females

Imaging
Band of GM deep to cortex
Lissencephaly pachygyria spectrum

Refers to “smooth brain” with absent or poor sulcation.

Due to neuronal under migration

 type I (classic) lissencephaly

 type II (cobblestone complex) lissencephaly
 Classic
Lissencephaly

CT APPEARANCE

• smooth, nearly agyric surface

• shallow sylvian fissures (Axial)

 Classic
Lissencephaly

MRI APPEARANCE

• Thin cortical ribbon

• Hyperintense cell-sparse zone

• Thickened cortex

• Agyria
 Type 2
Lissencephaly

Cobblestone appearance
Associated with muscular dystrophy
syndromes
 Abnormalities of Postmigrational Development

Polymicrogyria
• Irregular cortex with multiple small convolutions
• Shallow sulci
• Irregular GWM interface
• Similar to Lissencephaly type II
Schizencephaly

• Cleft extending from ventricle to the pial surface lined by

gray matter

• Types

 Close lipped

 Open lipped
Open lipped
Schizencephaly
ANOMALIES OF VENTRAL PROSENCEPHALON
DEVELOPMENT

• Holoprosencephaly and variants

• Septo-optic dysplasia
HOLOPROSENCEPHALY
Incomplete separation of the two hemispheres

‘Holo’ –Single

 alobar holoprosencephaly
 semilobar holoprosencephaly
 lobar Holoprosencephaly

 Can effect diencephalic structures

Alobar Holoprosencephaly

• single midline monoventricle

absent midline structures

• absent septum pellucidum

• agenesis or hypoplasia of the corpus callosum

• absent interhemispheric fissure and falx cerebri

• More cephalad
Differential - Hydranencephaly

• occurs in-utero
• Causes
Infarction, Infection, hypoxic ischemic
encephalopathy

• The falx is usually present

Semilobar holoprosencephaly

• absence of septum pellucidum

• monoventricle with partially developed occipital

and temporal horns

• rudimentary falx cerebri: absent anteriorly

• incompletely formed interhemispheric fissure

 Lobar Holoprosencephaly

• fusion of the frontal horns of the lateral

ventricles
• wide communication of this fused segment
with the third ventricle
• absence of septum pellucidum
 • middle interhemispheric variant
Syntelencephaly (MIHV), is a mild subtype
of holoprosencephaly

Mids frontal and parietal lobes are fused across the midline
 Septooptic dysplasia

• Optic nerve hypoplasia

• Absence of septum pellucidum
• Two-thirds of patients hypothalamic-
pituitary dysfunction.
THANK YOU
 Normal brain
development
Neurulation Regionalization
Cortico-genesis
(neural tube formation (vesicle formation & Myelination
& dysjunction) cleavage) (histogenesis & migration)

Proliferation

Migration

Organization