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 meningocele

myelomenigocele

SPINA BIFIDA

Sacral dimple: dermal sinus track with spina bifida

MYELOMENINGOCELE

Herniation of malformed cord + meninges through vertebral defect Usually associated with Arnold-Chiari and hydrocephalus Lumbosacral level most common

Myelomeningocele

Chiari II (Arnold Chiari)

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)

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

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 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)

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

Common associations: TORCH infections, fetal alcohol syndrome, trisomy 13 Classification:

Alobar Semilobar Lobar Arrinencephaly

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

Holoprosencephaly

Cyclopia and cebocephaly

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

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

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)
abnl)

Meckel-Gruber (occipital encephalocele, liver/kidney

May be clinically silent

AGENESIS OF CORPUS CALLOSUM

Abnormal cingulate gyrus with radiating gyral pattern

AGENESIS OF CORPUS CALLOSUM

Bat wing shaped lateral ventricles Bundle of Probst

MICROENCEPHALY

MICROENCEPHALY

Small brain Primary

with micro-cephaly (small head)

Secondary
may have normocephaly Neurodegenerative diseases
Ceroid lipofuscinosis (Battens disease)

MEGALENCEPHALY

Brain weight > 2.5 standard deviation than mean Classification

Primary: familial, achondroplasia, isolated Secondary: leukodystrophies (Alexanders), 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 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