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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. Neural tube defects. Anencephaly. Failure of closure of the anterior neuropore Common malformation Frog-like facies Area cerebrovasculosa

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CNS Malformations

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  1. CNS Malformations SCOTT KULICH, M.D., Ph.D. RAFAEL MEDINA-FLORES, M.D. RONALD L. HAMILTON, M.D. Division of Neuropathology

  2. Neural tube defects

  3. Anencephaly Failure of closure of the anterior neuropore Common malformation Frog-like facies Area cerebrovasculosa Underdeveloped hypothalamus Adrenal cortical hyperplasia Multifactorial-Folic acid supplementation

  4. Anencephaly

  5. Anencephaly

  6. SPINA BIFIDA • myelomenigocele occulta meningocele

  7. SPINA BIFIDA • Sacral dimple: dermal sinus track with spina bifida

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

  9. Myelomeningocele

  10. 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

  11. 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

  12. Arnold-Chiari (Chiari II)

  13. Arnold-Chiari (Chiari II)

  14. Arnold-Chiari (Chiari II)

  15. 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.

  16. Chiari I Malformation • Chronic protrusion of the cerebellar tonsils less than 1.5 cm below the foramen magnum • Most patients asymptomatic • Some develop hydrocephalus

  17. 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

  18. DANDY-WALKER SYNDROME

  19. DANDY-WALKER SYNDROME

  20. 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

  21. Holoprosencephaly • Common associations: TORCH infections, fetal alcohol syndrome, trisomy 13 • Classification: • Alobar • Semilobar • Lobar • Arrinencephaly

  22. 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

  23. Holoprosencephaly • Cyclopia and cebocephaly

  24. 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

  25. Holoprosencephaly

  26. Holoprosencephaly

  27. Holoprosencephaly

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

  29. 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

  30. AGENESIS OF CORPUS CALLOSUM • Abnormal cingulate gyrus with radiating gyral pattern

  31. AGENESIS OF CORPUS CALLOSUM • Bat wing shaped lateral ventricles • Bundle of Probst

  32. MICROENCEPHALY

  33. MICROENCEPHALY • “Small brain” • Primary • with micro-cephaly (small head) • Secondary • may have normocephaly • Neurodegenerative diseases • Ceroid lipofuscinosis (Batten’s disease)

  34. 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

  35. CORTICAL DYSPLASIAPolymicrogyria

  36. CORTICAL DYSPLASIA POLYMICROGYRIA

  37. TUBEROUS SCLEROSIS

  38. TUBEROUS SCLEROSIS Wide, flat, firm gyri

  39. TUBEROUS SCLEROSIS Candle gutterings

  40. TUBEROUS SCLEROSIS SEGA

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

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

  43. Sturge-Weber Disease

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