rhombencephalosynapsis

Introduction

congenital anomaly of the cerebellum

Etiology

• fetal insult day 28-44 of gestation

Epidemiology

• very rare

Pathology

• absence of cerebellar vermis absence
• continuity of cerebellar hemispheres, dentate nuclei, & superior cerebellar peduncles
• transversely oriented single lobed cerebellum
• may occur as an isolated anomaly (rare) or as part of wider cerebral malformation

Clinical manifestations

• variable degrees of neurological impairment ranging from early death to variable cerebellar dysfunction & neurodevelopmental delay
• some patients may reach adulthood

Radiology

• MRI of brain (neuroimaging)
  • absent anterior cerebellar vermis
  • deficient posterior cerebellar vermis
  • fusion of cerebellar hemispheres
  • fusion of dentate nuclei
  • fusion of superior cerebellar peduncles

* MRI images

More general terms

• congenital anomaly (birth defect)
• developmental disorder
• disease/disorder primarily affecting brain