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; E. Boltshauser

doi:10.1055/s-2002-34498

Neuropediatrics, Table of Contents

Neuropediatrics 2002; 33(4): 209-214
DOI: 10.1055/s-2002-34498

Original Article

Georg Thieme Verlag Stuttgart · New York

Rhombencephalosynapsis: Clinical Findings and Neuroimaging in 9 Children

S. P. Toelle¹ , C. Yalcinkaya² , N. Kocer² , T. Deonna³ , W. C. G. Overweg-Plandsoen⁴ , T. Bast⁵ , R. Kalmanchey⁶ , P. Barsi⁷ , J. F. L. Schneider¹ , A. Capone Mori¹ , E. Boltshauser¹

¹ University Children's Hospital, Zurich, Switzerland
² Department of Neurology, Cerrahpasa Medical School, Istanbul, Turkey
³ University Children's Hospital, Lausanne, Switzerland
⁴ Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands
⁵ University Children's Hospital, Heidelberg, Germany
⁶ University Children's Hospital, Budapest, Hungary
⁷ National Institute of Psychiatry and Neurology, Budapest, Hungary

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.

Key words

Rhombencephalosynapsis - Magnetic Resonance Imaging - Cerebellum - Ataxia - Hydrocephalus

Full Text

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Prof. E. Boltshauser

Department of Neurology, University Children's Hospital

Steinwiesstrasse 75

8032 Zurich

Switzerland

Email: eugen.boltshauser@kispi.unizh.ch