Transcript CNS Malformations - Division of Neuropathology

CNS Malformations
SCOTT KULICH, M.D., Ph.D.
RAFAEL MEDINA-FLORES, M.D.
RONALD L. HAMILTON, M.D.
Division of Neuropathology
Neural tube defects
Anencephaly
Failure of closure of the anterior
neuropore
Common malformation
Frog-like facies
Area cerebrovasculosa
Underdeveloped hypothalamus
Adrenal cortical hyperplasia
Multifactorial-Folic acid supplementation
Anencephaly
Anencephaly
SPINA BIFIDA
occulta
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myelomenigocele
meningocele
SPINA BIFIDA
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Sacral dimple: dermal
sinus track with spina
bifida
MYELOMENINGOCELE
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Herniation of
malformed cord +
meninges through
vertebral defect
Usually associated with
Arnold-Chiari and
hydrocephalus
Lumbosacral level most
common
Myelomeningocele
Chiari II (Arnold Chiari)
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Cerebellar tonsillar
herniation
Small posterior fossa
Extension of medulla below
foramen magnum
Kinking of medulla (Zformation)
Beaking of the
quadrigeminal plate
Hydrocephalus
Myelomeningocele
Chiari II (Arnold-Chiari)
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Cerebellar tonsillar
herniation
Small posterior fossa
Extension of medulla below
foramen magnum
Kinking of medulla (Zformation)
Beaking of the
quadrigeminal plate
Hydrocephalus
Myelomeningocele
Arnold-Chiari (Chiari II)
Arnold-Chiari (Chiari II)
Arnold-Chiari (Chiari II)
Chiari I Malformation
Sagittal MRI (T1) shows cerebellar tonsils 2-3 cm below foramen
magnum, where the CSF space is narrow. There is no syrinx
in the cervical cord & the 4th ventricle is normal size &
configuration.
Chiari I Malformation
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Chronic protrusion of
the cerebellar tonsils less
than 1.5 cm below the
foramen magnum
Most patients
asymptomatic
Some develop
hydrocephalus
Dandy-Walker Malformation
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Dandy-Walker syndrome
– Agenesis of cerebellar vermis
– cystic dilatation of 4th venticle
– enlargement of posterior fossa
– Variable clinical manifestations
– Hypothesized to result from arrest of cerebellar
development prior to the 3rd month
DANDY-WALKER
SYNDROME
DANDY-WALKER
SYNDROME
CEREBELLAR MALFORMATIONS:
VERMIAN (PALEOCEREBELLUM)
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Joubert syndrome
– Clinical manifestations include episodic
hyperpnea, ataxia, eye movement abnormalities,
and MR
– Familial
– Agenesis of vermis, cystic dilatation of 4th venticle
(but less than DWS)
– Microscopically normal cerebellar cortex with
numerous subcortical heterotopias
Holoprosencephaly
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Common associations:
TORCH infections,
fetal alcohol
syndrome, trisomy 13
Classification:
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Alobar
Semilobar
Lobar
Arrinencephaly
Holoprosencephaly
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Failure of the cerebral
hemispheres to separate
“face predicts brain”:
cyclopia, proboscis,
agnathia, cleft lip/ palate,
etc.
Most cases sporadic
Common associations:
maternal diabetes
Holoprosencephaly
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Cyclopia and cebocephaly
Holoprosencephaly
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Failure of the cerebral
hemispheres to separate
“face predicts brain”:
cyclopia, proboscis,
agnathia, cleft lip/ palate,
etc.
Most cases sporadic
Common associations:
maternal diabetes
Holoprosencephaly
Holoprosencephaly
Holoprosencephaly
Encephalocele
-Herniation of brain
through skull defect
-Usually occipital,
occasionally anterior
(frontal) at bridge of
nose (“nasal glioma”).
-Asymmetric with
overlying ulceration
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AGENESIS OF CORPUS
CALLOSUM
May be total or partial
– Partial usually affects posterior (splenium)
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May be sporadic or syndromic
– Acardi (infantile spasms, MR, polymicrogyria)
– Andermann (sensorimotor neuropathy, dysmorphic
features)
– Meckel-Gruber (occipital encephalocele, liver/kidney
abnl)
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May be clinically silent
AGENESIS OF CORPUS
CALLOSUM
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Abnormal
cingulate
gyrus with
radiating
gyral
pattern
AGENESIS OF CORPUS
CALLOSUM
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Bat wing
shaped
lateral
ventricles
Bundle of
Probst
MICROENCEPHALY
MICROENCEPHALY
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“Small brain”
Primary
– with micro-cephaly (small head)
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Secondary
– may have normocephaly
– Neurodegenerative diseases
» Ceroid lipofuscinosis (Batten’s disease)
MEGALENCEPHALY
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Brain weight > 2.5 standard deviation than
mean
Classification
– Primary: familial, achondroplasia, isolated
– Secondary: leukodystrophies (Alexander’s),
neurocutaneous syndromes, errors of metabolism
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May be associated with olivary heterotopia in
autistic patients
1/3 with macroscopic and 1/3 with
microscopic abnormalities
CORTICAL DYSPLASIA
Polymicrogyria
CORTICAL DYSPLASIA
POLYMICROGYRIA
TUBEROUS
SCLEROSIS
TUBEROUS
SCLEROSIS
Wide,
flat, firm
gyri
TUBEROUS SCLEROSIS
Candle
gutterings
TUBEROUS SCLEROSIS
SEGA
Sturge-Weber Disease
Port-wine stain or nevus
Flammeus tuypical of
Sturge-Weber, occurring in
V1 distribution.
Sturge Weber Disease
CT: Calcification of gyrus in the parietooccipital
region with focal cortical atrophy & ipsilateral
enlargement of the choroid plexus.
Sturge-Weber Disease