Presentation
Seizures.
Patient Data
Infratentorial:
Hypoplastic pons appears flat with an elongated rostrocaudal length of the ventral pons. Small middle and superior cerebellar peduncles. Figure-8 appearance of the midbrain. Mild cerebellar vermis hypoplasia with abnormal foliation.
Supratentorial:
Dysgenetic thinned corpus callosum. Reduced white matter volume.
Case Discussion
Pontocerebellar hypoplasia is a rare autosomal recessive neurodegenerative disease that implies a reduced volume of pons and cerebellum (not necessarily affecting the brainstem and cerebellum equally).
The midsagittal view is particularly important for assessing brainstem morphology, vermian size and lobulation, and some supratentorial anomalies, e.g. agenesis/dysgenesis of the corpus callosum, reduced white matter volume, and a simplified gyral pattern.