Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children

Neuropediatrics. 2002 Aug;33(4):209-14. doi: 10.1055/s-2002-34498.


Rhombencephalosynapsis is a rare congenital abnormality characterised by dorsal fusion of the cerebellar hemispheres, agenesis or hypogenesis of the vermis, fusion of dentate nuclei and superior cerebellar peduncles. We describe 9 children, aged 1.5 to 6 years, with rhombencephalosynapsis. Isolated rhombencephalosynapsis was found in 2 patients, hydrocephalus in 3 children and another 3 children had ventriculomegaly. Additional supratentorial abnormalities were documented in 5 patients. Clinical findings ranged from mild truncal ataxia and normal cognitive abilities to severe cerebral palsy and mental retardation. No correlation between clinical findings and magnetic resonance imaging could be established so far.

Publication types

  • Review

MeSH terms

  • Cerebellum / abnormalities*
  • Cerebellum / pathology*
  • Child
  • Child, Preschool
  • Cognition Disorders / etiology
  • Cognition Disorders / pathology*
  • Female
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Nervous System Diseases / complications
  • Nervous System Diseases / congenital*
  • Nervous System Diseases / pathology*
  • Rhombencephalon / abnormalities*
  • Rhombencephalon / pathology*