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Rhombencephalosynapsis
Luke L. Linscott, MD; Blaise V. Jones, MD; Anne G. Osborn, MD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Rhombencephalosynapsis (RES)
            • Definitions

              • Congenital continuity (lack of division) of cerebellar hemispheres
                • Complete or partial absence of vermis
                • Varying degrees of midline fusion of cerebellar hemispheres, dentate nuclei
                  • Hemispheres usually continuous across midline
                  • May be partial, affect any part(s) of hemispheres
                • Best classified as abnormal induction of dorsal cerebellar midline

            IMAGING

            • General Features

              • Radiographic Findings

                • CT Findings

                  • MR Findings

                    • Ultrasonographic Findings

                      • Imaging Recommendations

                        DIFFERENTIAL DIAGNOSIS

                          PATHOLOGY

                          • General Features

                            • Staging, Grading, & Classification

                              • Gross Pathologic & Surgical Features

                                CLINICAL ISSUES

                                • Presentation

                                  • Demographics

                                    • Natural History & Prognosis

                                      • Treatment

                                        DIAGNOSTIC CHECKLIST

                                        • Consider

                                          • Image Interpretation Pearls

                                            • Reporting Tips

                                              Selected References

                                              1. Aldinger KA et al: Rhombencephalosynapsis: fused cerebellum, confused geneticists. Am J Med Genet C Semin Med Genet. 178(4):432-9, 2018
                                              2. Kline-Fath BM et al: Prenatal aqueduct stenosis: association with rhombencephalosynapsis and neonatal outcome. Prenat Diagn. 38(13):1028-34, 2018
                                              3. Chapman T et al: Diagnostic imaging of posterior fossa anomalies in the fetus and neonate: part 2, posterior fossa disorders. Clin Imaging. 39(2):167-75, 2015
                                              4. Passi GR et al: Rhombencephalosynapsis. Pediatr Neurol. 52(6):651-2, 2015
                                              5. Poretti A et al: Fetal diagnosis of rhombencephalosynapsis. Neuropediatrics. 46(6):357-8, 2015
                                              6. Poretti A et al: Cerebellar hypoplasia: differential diagnosis and diagnostic approach. Am J Med Genet C Semin Med Genet. 166(2):211-26, 2014
                                              7. Whitehead MT et al: Rhombencephalosynapsis as a cause of aqueductal stenosis: an under-recognized association in hydrocephalic children. Pediatr Radiol. 44(7):849-56, 2014
                                              8. Weaver J et al: Rhombencephalosynapsis: embryopathology and management strategies of associated neurosurgical conditions with a review of the literature. J Neurosurg Pediatr. 11(3):320-6, 2013
                                              9. Ishak GE et al: Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. Brain. 135(Pt 5):1370-86, 2012
                                              10. Tully HM et al: Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. Am J Med Genet A. 158A(10):2393-406, 2012
                                              11. Alkan O et al: Malformations of the midbrain and hindbrain: a retrospective study and review of the literature. Cerebellum. 8(3):355-65, 2009
                                              12. Barkovich AJ et al: A developmental and genetic classification for midbrain-hindbrain malformations. Brain. 132(Pt 12):3199-230, 2009
                                              13. Dill P et al: Fetal magnetic resonance imaging in midline malformations of the central nervous system and review of the literature. J Neuroradiol. 36(3):138-46, 2009
                                              14. Jellinger KA: Rhombencephalosynapsis with and without associated malformations. Acta Neuropathol. 117(2):219, 2009
                                              15. Michael GA et al: Reactivity to visual signals and the cerebellar vermis: evidence from a rare case with rhombencephalosynapsis. Behav Neurosci. 123(1):86-96, 2009
                                              16. Pasquier L et al: Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases. Acta Neuropathol. 117(2):185-200, 2009
                                              17. Poretti A et al: Cognitive outcome in children with rhombencephalosynapsis. Eur J Paediatr Neurol. 13(1):28-33, 2009
                                              18. Elliott R et al: Rhombencephalosynapsis associated with autosomal dominant polycystic kidney disease Type 1. J Neurosurg Pediatr. 2(6):435-7, 2008
                                              19. Demaerel P et al: Partial rhombencephalosynapsis. AJNR Am J Neuroradiol. 25(1):29-31, 2004
                                              20. Patel S et al: Analysis and classification of cerebellar malformations. AJNR Am J Neuroradiol. 23(7):1074-87, 2002
                                              21. Toelle SP et al: Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children. Neuropediatrics. 33(4):209-14, 2002
                                              Related Anatomy
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                                              Related Differential Diagnoses
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                                              References
                                              Tables

                                              Tables

                                              KEY FACTS

                                              • Terminology

                                                • Imaging

                                                  • Top Differential Diagnoses

                                                    • Pathology

                                                      • Diagnostic Checklist

                                                        TERMINOLOGY

                                                        • Abbreviations

                                                          • Rhombencephalosynapsis (RES)
                                                        • Definitions

                                                          • Congenital continuity (lack of division) of cerebellar hemispheres
                                                            • Complete or partial absence of vermis
                                                            • Varying degrees of midline fusion of cerebellar hemispheres, dentate nuclei
                                                              • Hemispheres usually continuous across midline
                                                              • May be partial, affect any part(s) of hemispheres
                                                            • Best classified as abnormal induction of dorsal cerebellar midline

                                                        IMAGING

                                                        • General Features

                                                          • Radiographic Findings

                                                            • CT Findings

                                                              • MR Findings

                                                                • Ultrasonographic Findings

                                                                  • Imaging Recommendations

                                                                    DIFFERENTIAL DIAGNOSIS

                                                                      PATHOLOGY

                                                                      • General Features

                                                                        • Staging, Grading, & Classification

                                                                          • Gross Pathologic & Surgical Features

                                                                            CLINICAL ISSUES

                                                                            • Presentation

                                                                              • Demographics

                                                                                • Natural History & Prognosis

                                                                                  • Treatment

                                                                                    DIAGNOSTIC CHECKLIST

                                                                                    • Consider

                                                                                      • Image Interpretation Pearls

                                                                                        • Reporting Tips

                                                                                          Selected References

                                                                                          1. Aldinger KA et al: Rhombencephalosynapsis: fused cerebellum, confused geneticists. Am J Med Genet C Semin Med Genet. 178(4):432-9, 2018
                                                                                          2. Kline-Fath BM et al: Prenatal aqueduct stenosis: association with rhombencephalosynapsis and neonatal outcome. Prenat Diagn. 38(13):1028-34, 2018
                                                                                          3. Chapman T et al: Diagnostic imaging of posterior fossa anomalies in the fetus and neonate: part 2, posterior fossa disorders. Clin Imaging. 39(2):167-75, 2015
                                                                                          4. Passi GR et al: Rhombencephalosynapsis. Pediatr Neurol. 52(6):651-2, 2015
                                                                                          5. Poretti A et al: Fetal diagnosis of rhombencephalosynapsis. Neuropediatrics. 46(6):357-8, 2015
                                                                                          6. Poretti A et al: Cerebellar hypoplasia: differential diagnosis and diagnostic approach. Am J Med Genet C Semin Med Genet. 166(2):211-26, 2014
                                                                                          7. Whitehead MT et al: Rhombencephalosynapsis as a cause of aqueductal stenosis: an under-recognized association in hydrocephalic children. Pediatr Radiol. 44(7):849-56, 2014
                                                                                          8. Weaver J et al: Rhombencephalosynapsis: embryopathology and management strategies of associated neurosurgical conditions with a review of the literature. J Neurosurg Pediatr. 11(3):320-6, 2013
                                                                                          9. Ishak GE et al: Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. Brain. 135(Pt 5):1370-86, 2012
                                                                                          10. Tully HM et al: Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. Am J Med Genet A. 158A(10):2393-406, 2012
                                                                                          11. Alkan O et al: Malformations of the midbrain and hindbrain: a retrospective study and review of the literature. Cerebellum. 8(3):355-65, 2009
                                                                                          12. Barkovich AJ et al: A developmental and genetic classification for midbrain-hindbrain malformations. Brain. 132(Pt 12):3199-230, 2009
                                                                                          13. Dill P et al: Fetal magnetic resonance imaging in midline malformations of the central nervous system and review of the literature. J Neuroradiol. 36(3):138-46, 2009
                                                                                          14. Jellinger KA: Rhombencephalosynapsis with and without associated malformations. Acta Neuropathol. 117(2):219, 2009
                                                                                          15. Michael GA et al: Reactivity to visual signals and the cerebellar vermis: evidence from a rare case with rhombencephalosynapsis. Behav Neurosci. 123(1):86-96, 2009
                                                                                          16. Pasquier L et al: Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases. Acta Neuropathol. 117(2):185-200, 2009
                                                                                          17. Poretti A et al: Cognitive outcome in children with rhombencephalosynapsis. Eur J Paediatr Neurol. 13(1):28-33, 2009
                                                                                          18. Elliott R et al: Rhombencephalosynapsis associated with autosomal dominant polycystic kidney disease Type 1. J Neurosurg Pediatr. 2(6):435-7, 2008
                                                                                          19. Demaerel P et al: Partial rhombencephalosynapsis. AJNR Am J Neuroradiol. 25(1):29-31, 2004
                                                                                          20. Patel S et al: Analysis and classification of cerebellar malformations. AJNR Am J Neuroradiol. 23(7):1074-87, 2002
                                                                                          21. Toelle SP et al: Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children. Neuropediatrics. 33(4):209-14, 2002