Congenital malformations of brain radiology

2. Congenital Malformations Of the
brain
By Dr Abinash Samal
MIMS

6.  Prosencephalon (Forebrain) ----------> Diencephalon + Telencephalon
o (1) Telencephalon ------> Cerebral Hemispheres
o (2) Diencephalon
 Mesencephalon (Midbrain) ---------> (3) Midbrain
 Rhombencephalon (Hindbrain)
o Metencephalon ----------------------> (4) Pons, Cerebellum
o Myelencephalon --------------------> (5) Medulla Oblongata

7. Classification of congenital
malformation of brain
• I.Disorders of organogenesis:
• Neural tube closure
• Divericulation and cleavage
• Sulcation / cellular migration
• Cerebellar hypoplasia / dysplasia
• II.Disorders of Histogenesis:
• Neurocutaneous syndromes( phakomatoses)
• III.Disorders of cytogenesis:
• Congenital vascular malformations
• Congenital neoplasms of brain
• IV.Disorders of myelination
• Leukodystrophies

8. disorder of organogenesis:
neural tube closure defects:
chiari malformations
cephalocoele
Corpus callosum anomalies

9. • I.Disorders of organogenesis :
Chiari malformations
• Chiari I malformation:
• Tonsillar decent 5mm below BOL
• The tonsil appear compressed and pointed(peg like)
instead of gently rounded.
Tonsilar folia are angled odliquely instead of transversly
Retrocerebellar csf spaces at fm/c1 level are effaced.
•

10. • Associated anomalies
• Brain : normal
• Ventricles :
• mild– moderate hydrocephalus
• Spinal cord :
• Syringohydromyelia (30-60%)
• Skeletal anomalies :
• basilar invagination
• klippel feil
• atlanto occipital assimilation

12. Chiari II malformation
• Brain involvement :
• Cascading protrusion of vermian nodules ,fourth
ventricle, choroid plexus and the medulla into the
spinal canal with formation of cervicomedullary spur
and kink
• Upward herniation of cerebellar hemispheres and
vermis through gaping incisura (towering cerebellum)
producing tectal deformity ( beaked tectum )
• Cerebellar hemispheres creep around to engulf the
brainstem
• Large massa intermedia
• Hydrocephalus (90%) with serrated appearance of
lateral ventricles

14. above shows a T1 weighted MRI of patient with Type 1 Chiari malformation: Cerebellar tonsils are displaced
h the foramen magnum (white bar) to the lower aspect of C2. A syrinx (asterisk) is visible extending from C3 to

15. • Spine and cord involvement:
• Myelomeningocele ( nearly 100% )
• Syringohydromyelia (70-90%)
• Diastematomyelia
• Associated anomalies:
• Corpus callosal dysgenesis,heteropias, polynucrogyria

16. evel myelomeningocele (short arrow) is seen in a patient with a Chiari II malformation (long arrow).

17. Sagittal T2-weighted magnetic resonance image in a patient with a Chiari II malformation.
This image shows a thoracic-level myelomeningocele (arrows). The spinal cord, in addition to the
thoracic placode, also extends distally and is further tethered at the sacral level.

18. (3) cascade of an inferiorly displaced vermis behind the medulla; (4) elongated, tubelike fourth ventriclei;
around the brainstem anteriorly; (7) concave clivus; (8) medullary spur; and (9) medullary kink.

19. mputed tomography scan in a patient with a Chiari II malformation. This image shows a gaping
hat heart-shaped tentorial incisura (large arrowheads) that appears to be completely plugged
upwardly herniating cerebellum. The cerebellar hemispheres extend anteromedially
rowheads) and almost completely engulf the brainstem. The petrous ridges are concave (arrows).

20. Sagittal midline T1-weighted magnetic resonance image in a patient with a Chiari II malformation.
This image shows a large massa intermedia (long arrow) and a beaked tectum (short arrow)
. Other posterior fossa abnormalities are also seen in this patient.

21. Coronal T1-weighted magnetic resonance image in a patient with a Chiari II malformation.
This image shows low-lying transverse sinuses (arrows), hydrocephalus, and a small posterior fossa.
A hypoplastic tentorium cerebelli with gaping incisura (arrowhead) is present with a towering cerebellum (sm

22. Axial T2-weighted magnetic resonance image in a patient with a Chiari II malformation. This image
shows a hypoplastic fenestrated falx cerebri with striking interdigitation of the gyri (arrows).

23. Deep scalloping between the bony septations that characterize the lacunar skull (luckenschadel) (arrows
) are best appreciated on an axial computed tomography section, as in this patient with a Chiari II malforma

24. Chiari III malformation
• Features of Chiari II malformation with a low occipital or high
cervical encephalocele
• The encephalocele may contain meninges , cerebellum ,
occipital lobe or brainstem.cisterns and dural sinuses may also
present.

25. Chiari malformation type III. 3D reformatted CT scan shows lacunar skull and a large defect in the occipital re

26. Neonate with Chiari malformation type III. T2-weighted mid-sagittal MRI scan of the patient shows a small
posterior fossa,an deep parieooccipitalis fissure (open arrow), ad a partial callosal agenesis (curved arrow
), and a caudal herniation of part of the brain stem through the foramen magnum, with inferior tip appearin
g between C5 and C6 (closed arrow).

27. Image above shows an axial brain CT image showing herniation of cerebellum through in a
midline occipital bone defect in a type 3 Chiari malformation patient.

28. Image above shows sagittal T2-weighted MR image showing encephalocele in the occipital region and
fusion of C4-5 and C5-6 vertebrae. Note the syringomyelia in craniocervical junction

29. Chiari IV malformation
• Severe cerebellar hypoplasia or dysplasia, small brainstem and
large posterior fossa CSF space
• No hydrocephalus and other CNS anomalies
•

30. Cephalocele
• Characterised by protrusion of intracranial contents through a
congenital defect in the dura and skull
• Usually located at or near the midline
• Pathological classification of cephaloceles (based on the
contents of the herniated sac )
• Meningoceles (leptomeninges and CSF)
• Meningoencephalocele (leptomeninges, CSF and brain)
• Meningoencephalocystocele (leptomeninges,CSF,brain and
ventricles)
• Atretic cephalocele (small nodule of fibrous fatty tissue)
• Gliocele (CSF lined by glial tissue )

31. Anatomic classification of
cephalocele (based on location)
• Occipital –most common
• Parietal
• Temporal
• Frontl or Frontoethemoidal (sincipital)- most common in Asia
• Transsphenoidal –uncommon
• Nasal
• The herniated brain dysgenetic and non-functional
• Absence or erosion of the crista galli with enlargement of
foramen cecum is a constant feature of a nasal cephalocele

32. The radiograph shows a well-defined thinning of the parietal bone (arrow).

33. Encephalocele and cervical meningocele.

34. • Differential diagnosis of a nasal cephalocele includes
congenital masses (dermoid)-crista galli is present but split
• Antenatal ultrasound and MRI are useful in evaluation of
content of the sac.
• CT is useful in demonstrating bony defect
• Associated anomalies :
• Chiari II & III malformation (seen with occipital cephalocele)
• Corpus callosum agenesis , Dandy-walker malformation (seen
with parietal cephalocele)

35. Fronto-ethmoidal-sphenoidal encephaloceleFronto-ethmoidal-sphenoidal encephalocele -MRI (sag

36. Corpus Callosum Agenesis
• Corpus callosum a midline commissure connects 2 cerebral
hemispheres
• Develops in cephalocaudal direction , beginning with genu
then followed by the body and splenium,the rostrum is last to
develop
• 2 types :complete or partial

37. Complete callosal agenesis
• Absence of entire corpus callosum, cingulate gyrus and sulcus
• High riding 3rd ventricle with spoke like orientation of gyri
around it
• Widely separated paralell and non converging lateral ventricles
• Probst bundles (longitudinal white matter tracts ) indent
superomedial lateral ventricles
• Colpocephaly (dilated occipital horns )-common,frontal horns-
small and pointed
• High incidence of dorsal interhemispheric cyst

38. Corpus callosum, agenesis. Sagittal T1-weighted MRI of the brain shows complete absence of
the corpus callosum. The cingulate sulcus is absent, and the medial hemispheric sulci reach the
third ventricle in a radial fashion.

39. Corpus callosum, agenesis. Axial nonenhanced CT of the brain shows colpocephaly,
caused by dilation of the atria, and occipital horns of the lateral ventricle. Note the parallel configuration
of the lateral ventricles. Interdigitation of gyri from fenestration of the falx may be noted incidentally.

40. Corpus callosum, agenesis. Sagittal T1-weighted MRI of the brain. Parasagittal section through the
lateral ventricle shows dilatation of the atrium and occipital horn (colpocephaly).

41. Partial callosal agenesis
• Splenium and rostrum absent or hypoplastic
• Genu and body present to various degrees
• Associated anomalies :
• Migration disorders
(Heterotopias,lissencephaly,schizencephaly )
• Chiari II malformation
• Dandy-Walker malformation
• Holoprosencephaly
• Corpus callosal lipoma

42. Corpus callosum, agenesis. Sagittal T1-weighted MRI of the brain shows partial agenesis of the corpus
callosum. The genu and anterior body of the corpus callosum are visualized, whereas the posterior
body, splenium, and rostrum are absent.

43. Corpus callosum, agenesis. Sagittal T1-weighted MRI of the brain shows apparent atypical callosal
dysgenesis in lobar holoprosencephaly. The body and splenium of the corpus callosum are well formed,
whereas the genu and rostrum are hypoplastic.

44. • Diverticulation and cleavage failure:
Holoprosencephalies
Alobar
Semilobar
Lobar

45. Holoprosencephaly
Characterised by complete or partial failure of cleavage and
differentiation of developing cerebrum (prosencephalon ) into
hemispheres and lobes
• Cerebellum and brainstem relatively normal
• Classified into 3 types
• Alobar (most severe )
• Semilobar (moderately severe )
• Lobar (mildest form )

46. Alobar prosencephaly
• Near complete lack of hemispheric cleavage
• Cresent shaped monoventricle
• Absence of septum pellucidum , corpus callosum , falx cerebri
and interhemispheric fissure
• Fused thalami and basal ganglia
• Associated anomalies :Dorsal interhemispheric cyst ,
severe craniofacial anomaly.

47. Fetal magnetic resonance image shows alobar holoprosencephaly

48. Holoprosencephaly in a child with abnormal growth and development. CT coronal images of brain
show (a) alobar holoprosencephaly with a large central monoventricle (asterisk) and
thin cortical mantle (arrow); (b) semilobar holoprosencephaly with H-shaped monoventricle (asterisk)
. Basal ganglia and thalami are partially fused (arrow). Pituitary gland (not shown) appeared normal

49. Semilobar holoprosencephaly
• Partial brain diverticulation
• H shaped holoventricle with rudimentary occipital and
temporal horns.Rudimentary third ventricle may be present.
• Septum pellucidum absent ,callosal splenium may be formed,
falx cerebri and interhemispheric fissure partially developed
posteriorly
• Thalami and basal ganglia partially separated
• Associated anomalies:Dorsal interhemispheric cyst , variable
craniofacial anomalies

52. Lobar Holoprosencephaly
• Nearly complete brain cleavage
• Squared off or box like configuration of frontal horns due to
absence of septum pellucidum .
• variable degree of anterior extention of corpus callosum ,
well formed falx cerebri and interhemispheric fissure with
some anteroinferior fusion of hemispheres
• Thalami and basal ganglia well separated
• Associated anomalies : schizencephaly (most common )

53. Axial T1-weighted magnetic resonance image shows septo-optic dysplasia,
representing a variant of lobar holoprosencephaly.

54. Disorders of sulcation and
cellular migration
Lissencephaly
Non-lissencephalic cortcal dysplasia
Hterotopia
Schinzencephaly

55. lissencephaly
• Lissencephaly (Agyria-Pachygyria)
• Smooth brain with absent or poor sulcation
• Complete (agyria ) or incomplete (pachygyria )
• Intermediate
• Three types : I,II,III
• Type I (classical ) lissencephaly :
• Typical figure 8 configuration of brain with oblique and
shallow sylvian fissures.
• Thickened cortex with flat broad gyri and smooth grey-
white matter interface
• Colpocephaly
• Associated with Miller-Dieker syndrome

58. • Type II (cobblestone ) lissencephaly :
• Thickened cortex with polymicrogyric appearance .
• Concurrent hypomyelination of underlying white matter
present.
• Associated with fukuyama congenital muscular dystrophy
,walker-warburg syndrome and muscle – eye-brain syndrome.
• Type III (Cerebrocerebellar) lissencephaly
• microcephaly with moderately thickened cortex and
hypoplastic cerebellum and brainstem

59. Nonlissencephalic cortical
dysplasia
• Two types : polymicrogyria and pachygyria
• Polymicrogyria :
• Characterised by diffusely thickened cortex with irregular
bumpy gyral pattern
• MRI :Thick cortex with flat surface , irregular grey white
matter junction.

60. Postnatal axial T2-weighted image demonstrates volume loss and polymicrogyria involving
the left frontal and parietal lobes (arrow).

61. • Pachygyria :
• focal areas of thickened and flattened cortex with blurred
grey-white matter junction
• Both types of cortical dysplasia show relative paucity and
marked T2 prolongation of underlying white matter.

63. Heterotopias
• Presence of normal neurons at abnormal sites
• 2 types : Nodular type (common ),
• Band(laminar ) type(uncommon )
• Nodular type :
• Multiple masses of grey matter – variable sizes
• Common location : subependymal
• subcortical
• Focal or diffuse
• Subependymal focal nodules – indent ventricular wall
• Diffuse heterotopias border the walls of lateral ventricle

64. • Differential diagnosis : subependymal nodules tuberous
sclerosis
• Subcortical heterotopias are less frequent
• Band or laminar type :
• A layer of neurons interposed b/w ventricle and cortex ,
seen as alternating layer of grey and white matter band
• The cortex overlying the heterotypia is nearly always abnormal
with pachygyria or polymicrogyria

65. multiple nodular heterotopia (arrows) lining the frontal horn of the right lateral ventricle and extending
into the center of the frontal white matter. The right hemisphere is reduced in size. The overlying
cortex is thin and has a reduced number of sulci. The sulci present are abnormally shallow.
The corpus callosum is agenetic.

66. Axial T2-weighted MR image shows thick band heterotopia, the so-called double cortex

67. Schizencephaly (Split Brain )
• Presence of herotopic grey matter lined cleft that extends
from the ventricular ( ependyma) to periphery ( pial surface )
of brain , traversing through the white matter
• Unilateral / bilateral
• 2 types : closed lip ( type I ), open lip ( type II )
• Closed lip type :
• Walls of the cleft oppose each other & no intervening CSF
• Imaging : outpouching or nipping at the ependymal
surface of the cleft

68. Axial T2-weighted MRI in unilateral closed-lip (type I) schizencephaly. The cleft is lined by gray matte
r and extends from the pial surface to the lateral ventricle.

69. • Open lip type :
• walls of the cleft is widely separated and cleft is occupied by
CSF
• Severe form of open lip schizencephaly – “basket brain “
• closest differential is porencephalic cyst – CSF space is lined by
gliotic white matter

70. . Axial T2-weighted MRI demonstrates a small open-lip schizencephaly. The septum pellucidum is absent.

71. Hemimegalencepaly
• Hamartomatous overgrowth of a part or all of one cerebral
hemisphere
• MR shows enlargement of a part or whole of one
cerebralhemisphere , ipsilateral ventricle is frequently dilated
and the frontal horn is stretched
• Cortex – diffuse migration anomaly (polymicrogyria or
pachygyria )
• White matter is gliotic and dysmyelinated
• Total hemimegalencephaly
• Heterotopias may present
• Associated anomalies : Epidermal nevus syndrome , Klippel-
trenauny-weber syndrome, Neurofibromatosis type I

73. THANK YOU

74. Disorders of cerebellar
hypoplasia / dysplasia
• Dandy-walker complex :
• Dandy walker malformation and Dandy walker varient
• Dandy walker malformation :
• Large posterior fossa with cystic dilatation of the fourth
ventricle , that elevates the tentorium , torcular herophili and
the transverse sinuses above the lambdoid suture (lambdoid
torcula inversion )

75. • Partial or complete vermian agenesis associated with
hypoplastic cerebellar hemispheres
• The hypoplastic superior vermis is everted above the cyst and
the hemispheres- are displaced anterolaterally against the
petrous ridge – ‘’winged outward ‘’
• Brainstem compressed against the clivus
• Hydrocephalus present in 80% of untreated cases
• Associated anomalies : corpus callosum agenesis,
heterotopias, schizencephaly, cephaloceles
• Closest differentials : mega cisterna magna , posterior fossa
arachnoid cyst

76. arrow). The hypoplastic vermis is everted over the posterior fossa cyst (long arrow). The cerebellar hemisphe

77. alus, a large cerebrospinal fluid cyst in the posterior fossa, thinned occipital bone (arrows), and hypoplastic ce

78. • Dandy walker variant :
• Inferior vermian hypoplasia with communication of fourth
ventricle and cistern magna through an enlarged vallecula –
Key hole deformity
• Tentorial position and posterior fossa size are normal
• Brainstem –N & hydrocephalus –uncommon

79. hypoplastic inferior vermis in a 13-year-old girl with thoracal scoliosis and Dandy-Walker variant. The fourth ve

80. Mega cistern magna
• Variable size dilatation of cistern magna – communicates with
both the fourth ventricle and adjacent subarachnoid spaces
( straight sinus superiorly & C1-C2 inferiorly)
• severe cases – enlargement of posterior fossa and
scalloping of occipital sqamae +nt
• Fourth ventricle , vermis , cerebellar hemispheres are normal .
No hydrocephalus
• Vermian hypoplasia may mimic maga cistern magna – look for
size of vermis

83. Posterior fossa arachnoid cyst
• A collection within the layers of arachnoid membrane – not
communicates fully with fourth ventricle or adjacent
subarachnoid spaces
• 4th ventricle , vermis , cerebellar hemispheres are normal –
displaced by the cyst
• Imaging – non enhancing round to oval lesion attenuation and
signal intensity – closely parallels CSF
• DDs : Dandy walker malformation , mega cistern magna

84. MRI image of the brain in a 28-year-old woman with an incidental finding of a superior cerebellar cistern arac

85. Joubert’s syndrome ( congenital
vermian hypoplasia )
• Inherited vermian dysgenesis , enlarged superior cerebellar
peduncles and high riding fourth ventricle
• MR imaging : vermis is completely or partially absent.
• Superior 4th ventricle is bat-wing or umbrella shaped (on axial
) has convex roof (on Sagittal)
• The superior cerebellar peduncles are elongated, thin ,running
parallel to each other
• Isthmus is narrow
• Midbrain – molar tooth appearance
• Hydrocephalus is absent
• All pts should screened for occipital encephalocele, callosal
dysgenesis , cortical dysplasia , hypothalamic hamartomas and
occular, hepatic & renal diseases

87. Rhombencephalosynapsis
• Vermian agenesis / hypogenesis combined with midline fusion
of cerebellar hemispheres , peduncles and dentate nuclei
• MR imaging : folia and sulci are continuous throughout the
midline ( on axial ) monolobated cerebellum lies in mid sagittal
plane ( on sagittal ) posterior fossa is small.
• Associated anomalies : ventriculomegaly (common ), callosal
dysgenesis , absent septum pellucidum , cephalocele and
schizencephaly.

88. The cerebellar hemispheres are fused, without a normal vermis identified.

89. Tectocerebellar dysraphism
• Vermian hypoplasia , occipital cephalocele , marked
deformation of quadrigeminal plate and the brainstem
• Fusion of colliculi forms a tectal beak – points towards the site
of the cephalocele
• Cerebellar hemispheres – engulf the brainstem
• Associated anomalies : hydrocephalus , supratentorial
abnormalities

90. Lhermitte-Duclos disease
• Known as dysplastic gangliocytoma of cerebellum
• Gross thickening of cerebellar folia with or without mass effect
• MR imaging : pseudomas having laminated or folia pattern of
incrased signal on T2W.
• May/may not enhance on contrast
• Mass effect & displacement of fourth ventricle
• Calcification / hydrocephalus +nt
• Associated anomalies : cowden syndrome (common ) ,
megalencephaly , heterotopias, cortical dysplasia, multiple
visceral hamartomas and neoplasms

91. 2WI showed a mixed intensity lesion in the inferior right cerebellar hemisphere which contained some “dark s

92. Disorders of histogenesis
• Neurocutaneous syndromes or phakomatoses
• Cutaneous lesions + CNS anomalies
• Neurofibromatosis : 2 types
• Neurofibromatosis type I ( NF I )
• known as Von Recklinghausen disease or peripheral
neurofibromatosis
• >90% of all NF cases
• Incidence : 1:2000 to 3000 live births

93. Diagnostic criteria ( 2 or more +nt)
• 6 or more café –au-lait spots ( >5mm in pre pubertal children ,
>15mm in post pubertal )
• One plexiform neurofibroma or 2 or more neurofibromas of
any type
• 2 or more pigmented iris hamartomas ( Lisch nodule )
• Optic nerve glioma
• Osseous lesions – dysplasia of greater wing of sphenoid ,
pseudoarthrosis
• First degree relative with NF I

94. CNS lesions ( 15-20 % )
• Optic nerve glioma ( most common ) – optic chiasma , optic
tract, optic radiation and lateral geniculate bodies
• Non optic gliomas – brainstem , tectum , periaquiductal region
• Plexiform neurofibroma – hallmark of NF I
• Unencapsulated neurofibroma along the path of major
cutaneous nerve of the scalp and neck –first division of
trigeminal nerve. associated with dysplasia of sphenoid bone
& bony orbit.
• Non neoplastic hamartomatous lesions (80%)
• Astrocytic proliferation of retina , intracranial aneurysms ,
vascular ectasia
• Spinal lesions : cord astrocytoma / hamartoma , dural ectasia
& lateral / anterior intrathoracic meningoceles
• Skeletal dysplasias : hypoplasia of sphenoid bone , bony orbit ,

95. Frontal skull radiograph in a patient with NF1 shows asymmetry of the orbits but a normal sphenoid ridge.

96. ed unenhanced MRI scan in a 28-year-old woman shows dural ectasia and a large lobulated anterior sacral m

97. CT scan through the orbits in a patient with NF1 shows a right optic glioma.

98. gliomas (arrows), as well as a right temporal lobe and left brainstem lesions, which may represent additional

99. Neurofibromatosis type 2
• Known as central neurofibromatosis
• Incidence : 1:50,000 live births
• Cutaneous manifestations rare
• CNS manifestations ( 100% cases )
• Bilateral acoustic schwannomas , hallmark of NF 2
• Schwannomas of other cranial nerves – trigeminal
• Meningiomas – multiple
• Choroid plexus calcification
• Spinal lesions- cord ependymomas , meningiomas , multilevel
bulky schwannomas of exiting roots

100. ory canal-enhancing masses that are diagnostic for neurofibromatosis type 2 (NF2). No biopsy is necessary fo

101. ncing extra-axial meningioma (arrow) anterior to the cord with a complex enhancing mass (arrowheads) that r

102. Tuberous sclerosis
• Known as Bourneville disease or multiple hamartomatous
syndrome
• Incidence : 1:10,000 to 50,000 live births
• Classical triad of popular facial lesions (adenoma sebaceum) ,
seizure disorder and mental retardation
• CNS lesions :
• Cortical tubers or hamartomas (95% cases)
• MR imaging : lesions can expand and distort the affected gyri
and show age-related signal changes
• Enhancement on contrast (<5%cases )
• Calcifications

103. • Subependymal nodules or hamartomas –(95% cases ) located
on ventricular surface of caudate nucleus , just behind the
foramen of Manro followed by atria, temporal horn of lateral
ventricles , 3rd & 4th ventricle
• MR imaging : hypointense to white matter on T2W show
minimal contrast enhancement
• Closest differential : nodular heterotopias

104. • Subependymal gaint cell astrocytoma – (15% cases )
• located at or near foramen Manro
• MR imaging : intense uniform contrast enhancement .
• Frequently calcified
• Obstructive hydrocephalus – common

105. • Dysplastic / disorganised benign white matter lesions
• MR imaging :
• straight curvilinear bands extends from the ventricle
through the white matter to the cortex
• wedge shaped lesions
• tumefactive / conglomerate foci
• cerebellar radial bands
• Other CNS lesions : retinal hamartomas , intracranial
aneurysms , vascular ectasia
• Non CNS lesions : hamartomatous growths in multiple organ
system

106. ymal calcifications. A hypointense right frontal lesion represents a white matter lesion or tuber; it extends from

107. enhanced head CT scan reveals a low-attenuating cortical tuber (arrow) in a 10-year-old patient with tuberou

108. Sturge- weber syndrome
• Encephalotrigeminal angiomatosis
• Facial port wine vascular nevus flammeus in the trigeminal
nerve distribution (1st division), leptomeningeal venous
angiomatosis of ipsilateral brain , hemiparesis , homonymous
hemianopia and seizure
• Pathology : leptomeningeal venous angiomatosis with
congenital absence of cortical veins  blood is shunted
towards hypertrophied deep medullary veins & to choroid
plexus venous stasis and vascular congestion with hypoxia of
affected cortex
• Occipital and posterior parietal lobe on the side of facial
angioma –most commonly involved
• Tram-track or gyriform pattern of cortical calcification
-diagnostic

109. • Severe cortical atrophy – marked dilatation of ipsilateral
ventricle , thickening of calvarium , prominence of ipsilateral
sinuses
• The pial angiomas , cortical infarcts and enlarged ipsilateral
choroid plexus show intense post contrast enhancement
• Ocular lesions : sclera and choroid angiomas
• Associated anomalies : Klippel –Trenaunyay syndrome

110. the occipital horns of the lateral ventricles shows right cerebral atrophy and an enlarged right choroid plexus i

111. ows asymmetry of the skull with a smaller hemicranium on the affected side. Note the underlying tramline gyr

112. Von Hippel – Lindau syndrome
• Multisystem disease – cysts , angiomas , neoplasms of the CNS
and abdominal viscera
• CNS lesions :
• Cerebellar (75%), retinal (50%), spinal cord (25%)
hemangiblastomas
• MR imaging :
• majority have cystic appearance with intensely enhancing
mural nodule.
• angiographic appearance of the hemangioblastoma –tangles
of tightly packed vessels that become opacified in early arterial
phase

113. cans show a midline cerebellar cystic lesion with an enhancing nodule (arrow) due to cerebellar hemangioblas

114. eighted transaxial gadolinium-enhanced MRIs of the same patient as in the previous image show a well-define

115. T1-weighted contrast enhanced MRI shows an intensely enhancing cerebellar lesion (red arrow) with a large c

116. THANK YOU