Download PDF
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
Further Information

Publication History

Received: January 10, 2002

Accepted after Revision: May 18, 2002

Publication Date:
07 October 2002 (online)

Also available at
    Permissions and Reprints

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

References

  • 1 Aydingöz Ü, Cila A, Aktan G. Rhombencephalosynapsis associated with hand anomalies.  Br J Radiol. 1997;  70 764-766
    PubMedSearch in Google Scholar
  • 2 Boltenstern M, Konrad A, Jost W, Uder M, Kujat C H. Rhombencephalosynapsis.  Fortschr Röntgenstr. 1995;  163 91-93
    PubMedSearch in Google Scholar
  • 3 Brocks D, Irons M, Sadeghi-Najad A, McCauley R, Wheeler P. Gomez-Lopez-Hernandez syndrome: expansion of the phenotype.  Am J Med Genet. 2000;  94 405-408
    CrossrefPubMedSearch in Google Scholar
  • 4 Danon O, Elmaleh M, Boukobza B, Fohlen M, Hadjnacer K, Hassan M. Rhombencephalosynapsis diagnosed in childhood: clinical and MRI findings.  Magn Reson Imaging. 2000;  18 99-101
    PubMedSearch in Google Scholar
  • 5 Demaerel P, Kendall B E, Wilms G, Halpin S FS, Casaer P, Baert A L. Uncommon posterior cranial fossa anomalies: MRI with clinical correlation.  Neuroradiology. 1995;  37 72-76
    CrossrefPubMedSearch in Google Scholar
  • 6 Gross H, Hoff H. Sur les dysraphies crâniocéphaliques. Heuyer G, Feld M, Gruner J Malformations Congénitales du Cerveau. Paris; Masson 1959: 287-296
    Search in Google Scholar
  • 7 Guyot L L, Kazmierczak C D, Michael D B. Adult rhombencephalosynapsis. Case report.  J Neurosurg. 2000;  93 323-325
    PubMedSearch in Google Scholar
  • 8 Kurihara H, Takeuchi M, Koike S, Fujita K, Nagata N, Katou A, Yoshida T, Matsubara S. Rhombencephalosynapsis diagnosed in adulthood: a patient with mild dementia.  Neuroradiology. 2001;  43 103
    PubMedSearch in Google Scholar
  • 9 Leiz S, Rüdisser K, Hohnecker A, Baumeister F AM, Höpner F, Egger J. Rhombencephalosynapsis: a rare brain malformation.  Neuropediatrics. 2000;  31 A33
    Thieme ConnectPubMedSearch in Google Scholar
  • 10 Michaud J, Mizrahi E M, Urich H. Agenesis of the vermis with fusion of the cerebellar hemispheres, septo-optic dysplasia and associated anomalies. Report of a case.  Acta Neuropathol (Berl). 1982;  56 161-166
    CrossrefPubMedSearch in Google Scholar
  • 11 Montull C, Mercader J M, Peri J, Martinez Ferri M, Bonaventura I. Neuroradiological and clinical findings in rhombencephalosynapsis.  Neuroradiology. 2000;  42 272-274
    CrossrefPubMedSearch in Google Scholar
  • 12 Obersteiner H. Ein Kleinhirn ohne Wurm.  Arb Neurol Inst (Wien). 1914;  21 124-125
    PubMedSearch in Google Scholar
  • 13 Romanengo M, Tortori-Donati P, Di Rocco M. Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: a case report.  Clin Genet. 1997;  52 184-186
    PubMedSearch in Google Scholar
  • 14 Savolaine E R, Fadell R J, Patel Y P. Isolated rhombencephalosynapsis diagnosed by magnetic resonance imaging.  Clin Imaging. 1991;  15 125-129
    CrossrefPubMedSearch in Google Scholar
  • 15 Schachenmayr W, Friede R L. Rhombencephalosynapsis: a Viennese malformation?.  Dev Med Child Neurol. 1982;  24 178-182
    PubMedSearch in Google Scholar
  • 16 Schlachter K, Benninger Ch, Pietz J, von Kummer R, Sartor K, Rating D. Rhombencephalosynapsis. Todt H, Heinicke D Aktuelle Neuropädiatrie 1993. Wehr; Ciba-Geigy 1994: 463-466
    Search in Google Scholar
  • 17 Scroop R, Sage M, Voyvodic F. Rhombencephalosynapsis.  Australas Radiol. 2000;  44 225-227
    CrossrefPubMedSearch in Google Scholar
  • 18 Sener R N. Unusual MRI findings in rhombencephalosynapsis.  Comput Med Imaging Graph. 2000;  24 277-282
    PubMedSearch in Google Scholar
  • 19 Simmons G, Damiano T R, Truwit C L. MRI and clinical findings in rhombencephalosynapsis.  J Comput Assist Tomogr. 1993;  17 211-214
    PubMedSearch in Google Scholar
  • 20 Truwit C L, Barkovich A J, Shanahan R, Maroldo T V. MR imaging of rhombencephalosynapsis: Report of three cases and review of literature.  Am J Neuroradiol. 1991;  12 957-965
    PubMedSearch in Google Scholar
  • 21 Utsunomiya H, Takano K, Ogasawara T, Hashimoto T, Fukushoma T, Okazaki M. Rhombencephalosynapsis: cerebellar embryogenesis.  Am J Neuroradiol. 1998;  19 547-549
    PubMedSearch in Google Scholar
  • 22 Verri A, Uggetti C, Vallero E, Ceroni M, Federico A. Oral self-mutilation in a patient with rhombencephalosynapsis.  J Intellect Disabil Res. 2000;  44 86-90
    CrossrefPubMedSearch in Google Scholar

Prof. E. Boltshauser

Department of Neurology, University Children's Hospital

Steinwiesstrasse 75

8032 Zurich

Switzerland

Email: eugen.boltshauser@kispi.unizh.ch