Pontocerebellar hypoplasia

Case contributed by Dalia Ibrahim
Diagnosis probable

Presentation

Delayed mental and motor milestones.

Patient Data

Age: 1 year old
Gender: Male
ct

Left cerebellar hemispehere and inferior vermis aplasia with hypoplastic dysplastic right cerebellar hemisphere and superior cerebellar vermis.

Hypoplastic pons with an elongated rostrocaudal length of the ventral pons

Small asymmteric middle and superior cerebellar peduncles.

mri

Left cerebellar hemispehere and inferior vermis aplasia with hypoplastic dysplastic right cerebellar hemisphere and superior cerebellar vermis.

Hypoplastic pons with an elongated rostrocaudal length of the ventral pons

Small asymmteric middle and superior cerebellar peduncles.

Bilateral cerebral subcortical small hypomylination patches of abnormal signal.

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.

This case is courtesy of Dr. Tamer El Bakry. MD of Radiodiagnosis

How to use cases

You can use Radiopaedia cases in a variety of ways to help you learn and teach.

Creating your own cases is easy.