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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

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cns malformations

CNS Malformations

SCOTT KULICH, M.D., Ph.D.

RAFAEL MEDINA-FLORES, M.D.

RONALD L. HAMILTON, M.D.

Division of Neuropathology

anencephaly
Anencephaly

Failure of closure of the anterior neuropore

Common malformation

Frog-like facies

Area cerebrovasculosa

Underdeveloped hypothalamus

Adrenal cortical hyperplasia

Multifactorial-Folic acid supplementation

spina bifida
SPINA BIFIDA
  • myelomenigocele

occulta

meningocele

spina bifida1
SPINA BIFIDA
  • Sacral dimple: dermal sinus track with spina bifida
myelomeningocele
MYELOMENINGOCELE
  • Herniation of malformed cord + meninges through vertebral defect
  • Usually associated with Arnold-Chiari and hydrocephalus
  • Lumbosacral level most common
chiari ii arnold chiari
Chiari II (Arnold Chiari)
  • Cerebellar tonsillar herniation
  • Small posterior fossa
  • Extension of medulla below foramen magnum
  • Kinking of medulla (Z-formation)
  • Beaking of the quadrigeminal plate
  • Hydrocephalus
  • Myelomeningocele
chiari ii arnold chiari1
Chiari II (Arnold-Chiari)
  • Cerebellar tonsillar herniation
  • Small posterior fossa
  • Extension of medulla below foramen magnum
  • Kinking of medulla (Z-formation)
  • Beaking of the quadrigeminal plate
  • Hydrocephalus
  • Myelomeningocele
chiari i malformation
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 malformation1
Chiari I Malformation
  • Chronic protrusion of the cerebellar tonsils less than 1.5 cm below the foramen magnum
  • Most patients asymptomatic
  • Some develop hydrocephalus
dandy walker malformation
Dandy-Walker Malformation
  • 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
cerebellar malformations vermian paleocerebellum
CEREBELLAR MALFORMATIONS: VERMIAN (PALEOCEREBELLUM)
  • 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
Holoprosencephaly
  • Common associations: TORCH infections, fetal alcohol syndrome, trisomy 13
  • Classification:
    • Alobar
    • Semilobar
    • Lobar
    • Arrinencephaly
holoprosencephaly1
Holoprosencephaly
  • Failure of the cerebral hemispheres to separate “face predicts brain”: cyclopia, proboscis, agnathia, cleft lip/ palate, etc.
  • Most cases sporadic
  • Common associations: maternal diabetes
holoprosencephaly2
Holoprosencephaly
  • Cyclopia and cebocephaly
holoprosencephaly3
Holoprosencephaly
  • Failure of the cerebral hemispheres to separate “face predicts brain”: cyclopia, proboscis, agnathia, cleft lip/ palate, etc.
  • Most cases sporadic
  • Common associations: maternal diabetes
encephalocele
Encephalocele

-Herniation of brain through skull defect

-Usually occipital, occasionally anterior (frontal) at bridge of nose (“nasal glioma”).

-Asymmetric with overlying ulceration

agenesis of corpus callosum
AGENESIS OF CORPUS CALLOSUM
  • May be total or partial
    • Partial usually affects posterior (splenium)
  • May be sporadic or syndromic
    • Acardi (infantile spasms, MR, polymicrogyria)
    • Andermann (sensorimotor neuropathy, dysmorphic features)
    • Meckel-Gruber (occipital encephalocele, liver/kidney abnl)
  • May be clinically silent
agenesis of corpus callosum1
AGENESIS OF CORPUS CALLOSUM
  • Abnormal cingulate gyrus with radiating gyral pattern
agenesis of corpus callosum2
AGENESIS OF CORPUS CALLOSUM
  • Bat wing shaped lateral ventricles
  • Bundle of Probst
microencephaly1
MICROENCEPHALY
  • “Small brain”
  • Primary
    • with micro-cephaly (small head)
  • Secondary
    • may have normocephaly
    • Neurodegenerative diseases
      • Ceroid lipofuscinosis (Batten’s disease)
megalencephaly
MEGALENCEPHALY
  • Brain weight > 2.5 standard deviation than mean
  • Classification
    • Primary: familial, achondroplasia, isolated
    • Secondary: leukodystrophies (Alexander’s), neurocutaneous syndromes, errors of metabolism
  • May be associated with olivary heterotopia in autistic patients
  • 1/3 with macroscopic and 1/3 with microscopic abnormalities
cortical dysplasia
CORTICAL DYSPLASIA

POLYMICROGYRIA

tuberous sclerosis1
TUBEROUS SCLEROSIS

Wide, flat, firm gyri

tuberous sclerosis2
TUBEROUS SCLEROSIS

Candle

gutterings

sturge weber disease
Sturge-Weber Disease

Port-wine stain or nevus

Flammeus tuypical of

Sturge-Weber, occurring in

V1 distribution.

sturge weber disease1
Sturge Weber Disease

CT: Calcification of gyrus in the parietooccipital region with focal cortical atrophy & ipsilateral enlargement of the choroid plexus.