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cerebral malformations

Wednesday 28 May 2003

Etiology

- monogenic diseases
- chromosomal diseases
- inborn errors of metabolism
- exogenous causes

  • teratogenic chemical agents
  • teratogenic physical agents
  • teratogenic infectious agents
  • maternal diseases

Types

- neurulation failures

- failure of neural tube growth (defects in the differentiation of medial structures)

  • prosencephalon growth failure (prosencephalies)
    • holoprosencephalies (holoprosencephaly)
    • aprosencephaly
    • Corpus callosum agenesis
    • anomalies of the septum pellucidum
    • anomalies of the wall of the lateral ventricles

- anomalies of neuronal migration (cytoarchitectonic anomalies)

  • neuronal heterotopias
  • anomalies of the cortical plate
  • agyria-pachygyria
    • lissencephaly
      • isolated lissencephaly
      • lissencephaly type 1-four layered-Miller-Dieker syndrome
      • lissencephaly type 2-cortical dysplasia-Walker-Warburg syndrome
      • lissencephaly type 3-micrencephaly-cytoarchitectonic anomalies
  • microgyria
  • polymicrogyria
  • status verrucosus simplex

- microencepahly and micrencephaly

- megalencephaly

- defects of the ventricular system (congenital hydrocephalus)

  • obstructive hydrocephalus
  • cerebral malformations associated hydrocephalus
  • hydrocephalus with genetically transmitted disorders

- brainstem and cerebellum growth failure

  • brainstem anomalies
  • cerebellar malformations

- cerebral cysts

  • arachnoid cysts
  • choroid plexus cysts
  • subependymal pseudocysts

- cerebral vascular malformations

  • cerebral arterioveinous malformations

See also:

- spinal cord malformations


- The Atlas of Syndromic CNS Malformations, by Alex R. Paciorkowski, M.D.