CNS Congenital Abnormalities - Pathology

Introduction

• Congenital malformations may involve the spinal cord, brain, meninges, calvaria or vertebral column.
• Abnormalities typically result from defects in neural tube development.
• Congenital malformations are present at or before birth, and manifest as either:
  • Morphological problems
  • Functional problems
    • Tend to arise as biochemical abnormalities, such as the lysosomal diseases or leukodystrophies.
• Causes of congenital abnormalities include:
  • Environmental causes
    • For example, these may be toxic, infectious, nutritional, or physical (e.g. radiation)
    • This is by far the most common cause.
  • Inherited traits.

Cerebellar Defects

• Cerebellar defects include:
  • Cerebellar hypoplasia
  • Cerebellar abiotrophy