Rhombencephalosynapsis: Clinical findings and neuroimaging in 9 children

S. P. Toelle, C. Yalcinkaya, N. Kocer, T. Deonna, W. C.G. Overweg-Plandsoen, T. Bast, R. Kalmanchey, P. Barsi, J. F.L. Schneider, A. Capone Mori, Eugen Boltshauser

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Abstract

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.

Original languageEnglish
Pages (from-to)209-214
Number of pages6
JournalNeuropediatrics
Volume33
Issue number4
DOIs
Publication statusPublished - Aug 1 2002

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Keywords

  • Ataxia
  • Cerebellum
  • Hydrocephalus
  • Magnetic Resonance Imaging
  • Rhombencephalosynapsis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

Toelle, S. P., Yalcinkaya, C., Kocer, N., Deonna, T., Overweg-Plandsoen, W. C. G., Bast, T., Kalmanchey, R., Barsi, P., Schneider, J. F. L., Capone Mori, A., & Boltshauser, E. (2002). Rhombencephalosynapsis: Clinical findings and neuroimaging in 9 children. Neuropediatrics, 33(4), 209-214. https://doi.org/10.1055/s-2002-34498