Presentation
Patient presented with nystagmus.
Patient Data
Age: 1 year
Gender: Male
From the case:
Pontocerebellar hypoplasia
{"current_user":null,"step_through_annotations":true,"access":{"can_edit":false,"can_download":true,"can_toggle_annotations":true,"can_feature":false,"can_examine_pipeline_reports":false,"can_pin":false},"extraPropsURL":"/studies/85196/annotated_viewer_json?_c=1669426121\u0026iframe=true\u0026lang=us"}
Complete absence of the cerebellar hemispheres and vermis with few remnants of cerebellar peduncles. The brainstem also appears hypoplastic mainly at the pons.
Case Discussion
Pontocerebellar hypoplasia is hypoplasia of the pons and cerebellum while cerebellar agenesis is isolated cerebellar hypoplasia where total or subtotal absence of the cerebellar hemispheres and vermis occurs.
Patients present with severe developmental motor delay.