Pontocerebellar Hypoplasia

  • Etiology: Genetically diverse group of congenital neurodegenerative diseases
  • Imaging:
    — Volume loss of pons and cerebellum with cerebellar hemispheres affected greater than cerebellar vermis
    — Posterior fossa not enlarged
    — Normal gyration
  • DDX:
  • Complications:
  • Treatment:
  • Clinical: Relentless neurologic and radiologic progression

Radiology Cases of Pontocerebellar Hypoplasia

MRI of pontocerebellar hypoplasia
Sagittal T1 MRI without contrast of the brain shows severe hypoplasia of the pons and cerebellum. The fourth ventricle is enlarged and the posterior fossa is of normal size.