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

Research output: Contribution to journalArticle

70 Citations (Scopus)

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

Fingerprint

Neuroimaging
Cerebellar Nuclei
Aptitude
Cerebral Palsy
Ataxia
Hydrocephalus
Intellectual Disability
Magnetic Resonance Imaging

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., ... Boltshauser, E. (2002). Rhombencephalosynapsis: Clinical findings and neuroimaging in 9 children. Neuropediatrics, 33(4), 209-214. https://doi.org/10.1055/s-2002-34498

Rhombencephalosynapsis : Clinical findings and neuroimaging in 9 children. / 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, Eugen.

In: Neuropediatrics, Vol. 33, No. 4, 01.08.2002, p. 209-214.

Research output: Contribution to journalArticle

Toelle, SP, Yalcinkaya, C, Kocer, N, Deonna, T, Overweg-Plandsoen, WCG, Bast, T, Kalmanchey, R, Barsi, P, Schneider, JFL, Capone Mori, A & Boltshauser, E 2002, 'Rhombencephalosynapsis: Clinical findings and neuroimaging in 9 children', Neuropediatrics, vol. 33, no. 4, pp. 209-214. https://doi.org/10.1055/s-2002-34498
Toelle SP, Yalcinkaya C, Kocer N, Deonna T, Overweg-Plandsoen WCG, Bast T et al. Rhombencephalosynapsis: Clinical findings and neuroimaging in 9 children. Neuropediatrics. 2002 Aug 1;33(4):209-214. https://doi.org/10.1055/s-2002-34498
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, Eugen. / Rhombencephalosynapsis : Clinical findings and neuroimaging in 9 children. In: Neuropediatrics. 2002 ; Vol. 33, No. 4. pp. 209-214.
@article{874663dc087246ada685bbc4484afae6,
title = "Rhombencephalosynapsis: Clinical findings and neuroimaging in 9 children",
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.",
keywords = "Ataxia, Cerebellum, Hydrocephalus, Magnetic Resonance Imaging, Rhombencephalosynapsis",
author = "Toelle, {S. P.} and C. Yalcinkaya and N. Kocer and T. Deonna and Overweg-Plandsoen, {W. C G} and T. Bast and R. Kalmanchey and P. Barsi and Schneider, {J. F L} and {Capone Mori}, A. and Eugen Boltshauser",
year = "2002",
month = "8",
day = "1",
doi = "10.1055/s-2002-34498",
language = "English",
volume = "33",
pages = "209--214",
journal = "Neuropediatrics",
issn = "0174-304X",
publisher = "Hippokrates Verlag GmbH",
number = "4",

}

TY - JOUR

T1 - Rhombencephalosynapsis

T2 - Clinical findings and neuroimaging in 9 children

AU - Toelle, S. P.

AU - Yalcinkaya, C.

AU - Kocer, N.

AU - Deonna, T.

AU - Overweg-Plandsoen, W. C G

AU - Bast, T.

AU - Kalmanchey, R.

AU - Barsi, P.

AU - Schneider, J. F L

AU - Capone Mori, A.

AU - Boltshauser, Eugen

PY - 2002/8/1

Y1 - 2002/8/1

N2 - 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.

AB - 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.

KW - Ataxia

KW - Cerebellum

KW - Hydrocephalus

KW - Magnetic Resonance Imaging

KW - Rhombencephalosynapsis

UR - http://www.scopus.com/inward/record.url?scp=18544387322&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=18544387322&partnerID=8YFLogxK

U2 - 10.1055/s-2002-34498

DO - 10.1055/s-2002-34498

M3 - Article

VL - 33

SP - 209

EP - 214

JO - Neuropediatrics

JF - Neuropediatrics

SN - 0174-304X

IS - 4

ER -