Overview
- Developmental anomalies affecting the cerebellum and brainstem.
- Can originate at any developmental stage:
- Early disorders of patterning
- Fourth ventricle roof malformations
- Disorders of cerebellar hemisphere and vermis formation
1. Disorders of Patterning
- Occur very early (~5 weeks post-conception).
- Result from disrupted early hindbrain flexures.
- Characterized by:
- Incomplete flexing of hindbrain.
- Residual "kinked brainstem."
- Significant cerebellar anomalies.
2. Disorders of Fourth Ventricle Roof Formation
- Linked to abnormal posterior fossa fluid collections.
- Common underlying mechanism:
- Disrupted mesenchymal-neuroepithelial signaling (Aldinger et al., 2009).
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