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) .

. where the CSF space is narrow. There is no syrinx in the cervical cord & the 4th ventricle is normal size & configuration.Chiari I Malformation Sagittal MRI (T1) shows cerebellar tonsils 2-3 cm below foramen magnum.

5 cm below the foramen magnum Most patients asymptomatic Some develop hydrocephalus .Chiari I Malformation    Chronic protrusion of the cerebellar tonsils less than 1.

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 .

ataxia. eye movement abnormalities.CEREBELLAR MALFORMATIONS: VERMIAN (PALEOCEREBELLUM)  Joubert syndrome – Clinical manifestations include episodic hyperpnea. cystic dilatation of 4th venticle (but less than DWS) – Microscopically normal cerebellar cortex with numerous subcortical heterotopias . and MR – Familial – Agenesis of vermis.

fetal alcohol syndrome. trisomy 13 Classification: – – – – Alobar Semilobar Lobar Arrinencephaly .Holoprosencephaly   Common associations: TORCH infections.

Most cases sporadic Common associations: maternal diabetes .Holoprosencephaly    Failure of the cerebral hemispheres to separate “face predicts brain”: cyclopia. etc. cleft lip/ palate. proboscis. agnathia.

Holoprosencephaly  Cyclopia and cebocephaly .

Holoprosencephaly    Failure of the cerebral hemispheres to separate “face predicts brain”: cyclopia. proboscis. etc. agnathia. Most cases sporadic Common associations: maternal diabetes . cleft lip/ palate.

Holoprosencephaly .

Holoprosencephaly .

Holoprosencephaly .

-Asymmetric with overlying ulceration . occasionally anterior (frontal) at bridge of nose (“nasal glioma”).Encephalocele -Herniation of brain through skull defect -Usually occipital.

 AGENESIS OF CORPUS CALLOSUM May be total or partial – Partial usually affects posterior (splenium)  May be sporadic or syndromic – Acardi (infantile spasms. polymicrogyria) – Andermann (sensorimotor neuropathy. dysmorphic features) abnl) – Meckel-Gruber (occipital encephalocele. MR. 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 (Batten’s disease) .

5 standard deviation than mean Classification – Primary: familial.MEGALENCEPHALY   Brain weight > 2. neurocutaneous syndromes. isolated – Secondary: leukodystrophies (Alexander’s). errors of metabolism   May be associated with olivary heterotopia in autistic patients 1/3 with macroscopic and 1/3 with microscopic abnormalities . achondroplasia.

CORTICAL DYSPLASIA Polymicrogyria .

CORTICAL DYSPLASIA POLYMICROGYRIA .

TUBEROUS SCLEROSIS .

TUBEROUS SCLEROSIS Wide. flat. firm gyri .

TUBEROUS SCLEROSIS Candle gutterings .

TUBEROUS SCLEROSIS SEGA .

occurring in V1 distribution.Sturge-Weber Disease Port-wine stain or nevus Flammeus tuypical of Sturge-Weber. .

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

Sturge-Weber Disease .

Sign up to vote on this title
UsefulNot useful