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Rhombencephalosynapsis
Anne M. Kennedy, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Rhombencephalosynapsis (RES)
            • Definitions

              • Midline fusion of cerebellar hemispheres with partial or complete loss of vermis

            IMAGING

            • Ultrasonographic Findings

              • MR Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Gross Pathologic & Surgical Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Consider

                                  • Image Interpretation Pearls

                                    Selected References

                                    1. Kobayashi Y et al: Gómez-López-Hernández syndrome in a Japanese patient: a case report. Brain Dev. 37(3):356-8, 2015
                                    2. Passi GR et al: Rhombencephalosynapsis. Pediatr Neurol. 52(6):651-2, 2015
                                    3. Poretti A et al: Cerebellar hypoplasia: Differential diagnosis and diagnostic approach. Am J Med Genet C Semin Med Genet. 166(2):211-26, 2014
                                    4. 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
                                    5. Cagneaux M et al: Severe second-trimester obstructive ventriculomegaly related to disorders of diencephalic, mesencephalic and rhombencephalic differentiation. Ultrasound Obstet Gynecol. 42(5):596-602, 2013
                                    6. Démurger F et al: Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis. Mol Syndromol. 4(6):267-72, 2013
                                    7. Tully HM et al: Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis. Mov Disord. 28(14):2019-23, 2013
                                    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. Barth PG: Rhombencephalosynapsis: new findings in a larger study. Brain. 135(Pt 5):1346-7, 2012
                                    10. Bekiesińska-Figatowska M et al: Rhombencephalosynapsis - isolated anomaly or complex malformation? Pol J Radiol. 77(3):35-8, 2012
                                    11. 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
                                    12. Paprocka J et al: Isolated rhomboencephalosynapsis - a rare cerebellar anomaly. Pol J Radiol. 77(1):47-9, 2012
                                    13. Koprivsek KM et al: Partial rhombencephalosynapsis: prenatal MR imaging diagnosis and postnatal follow up. Acta Neurol Belg. 111(2):157-9, 2011
                                    14. Striano P et al: Rhombencephalosynapsis in a patient with mental retardation, epilepsy, and dysmorphisms. Neurol Sci. 32(1):193-4, 2011
                                    15. Sukhudyan B et al: Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria. Eur J Pediatr. 169(12):1523-8, 2010
                                    16. Takano T et al: Aprosencephaly with rhombencephalosynapsis and hamartomatous midbrain dysplasia. Neuropathol Appl Neurobiol. Epub ahead of print, 2010
                                    17. 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
                                    18. Koljonen V et al: Atypical craniosynostosis with torticollis and neurological symptoms: a rhombencephalosynapsis sequence. Case Rep Med. 2009:919463, 2009
                                    19. Kruer MC et al: Truncal ataxia, hypotonia, and motor delay with isolated rhombencephalosynapsis. Pediatr Neurol. 41(3):229-31, 2009
                                    20. Pasquier L et al: Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases. Acta Neuropathol. 117(2):185-200, 2009
                                    21. Poretti A et al: Cognitive outcome in children with rhombencephalosynapsis. Eur J Paediatr Neurol. 13(1):28-33, 2009
                                    22. di Vera E et al: Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy. J Assist Reprod Genet. 25(11-12):577-80, 2008
                                    23. McAuliffe F et al: Rhombencephalosynapsis: prenatal imaging and autopsy findings. Ultrasound Obstet Gynecol. 31(5):542-8, 2008
                                    24. Tan TY et al: Prenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature. Am J Med Genet A. 138(4):369-73, 2005
                                    25. Boltshauser E: Cerebellum-small brain but large confusion: a review of selected cerebellar malformations and disruptions. Am J Med Genet. 126A(4):376-85, 2004
                                    26. Napolitano M et al: Prenatal magnetic resonance imaging of rhombencephalosynapsis and associated brain anomalies: report of 3 cases. J Comput Assist Tomogr. 28(6):762-5, 2004
                                    27. Sener RN et al: Rhombencephalosynapsis and a Chiari II malformation. J Comput Assist Tomogr. 27(2):257-9, 2003
                                    28. Patel S et al: Analysis and classification of cerebellar malformations. AJNR Am J Neuroradiol. 23(7):1074-87, 2002
                                    29. Toelle SP et al: Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children. Neuropediatrics. 33(4):209-14, 2002
                                    30. Yachnis AT: Rhombencephalosynapsis with massive hydrocephalus: case report and pathogenetic considerations. Acta Neuropathol (Berl). 103(3):301-4, 2002
                                    Related Anatomy
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                                    Related Differential Diagnoses
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                                    References
                                    Tables

                                    Tables

                                    KEY FACTS

                                    • Terminology

                                      • Imaging

                                        • Top Differential Diagnoses

                                          • Clinical Issues

                                            • Diagnostic Checklist

                                              TERMINOLOGY

                                              • Abbreviations

                                                • Rhombencephalosynapsis (RES)
                                              • Definitions

                                                • Midline fusion of cerebellar hemispheres with partial or complete loss of vermis

                                              IMAGING

                                              • Ultrasonographic Findings

                                                • MR Findings

                                                  • Imaging Recommendations

                                                    DIFFERENTIAL DIAGNOSIS

                                                      PATHOLOGY

                                                      • General Features

                                                        • Gross Pathologic & Surgical Features

                                                          CLINICAL ISSUES

                                                          • Presentation

                                                            • Demographics

                                                              • Natural History & Prognosis

                                                                • Treatment

                                                                  DIAGNOSTIC CHECKLIST

                                                                  • Consider

                                                                    • Image Interpretation Pearls

                                                                      Selected References

                                                                      1. Kobayashi Y et al: Gómez-López-Hernández syndrome in a Japanese patient: a case report. Brain Dev. 37(3):356-8, 2015
                                                                      2. Passi GR et al: Rhombencephalosynapsis. Pediatr Neurol. 52(6):651-2, 2015
                                                                      3. Poretti A et al: Cerebellar hypoplasia: Differential diagnosis and diagnostic approach. Am J Med Genet C Semin Med Genet. 166(2):211-26, 2014
                                                                      4. 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
                                                                      5. Cagneaux M et al: Severe second-trimester obstructive ventriculomegaly related to disorders of diencephalic, mesencephalic and rhombencephalic differentiation. Ultrasound Obstet Gynecol. 42(5):596-602, 2013
                                                                      6. Démurger F et al: Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis. Mol Syndromol. 4(6):267-72, 2013
                                                                      7. Tully HM et al: Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis. Mov Disord. 28(14):2019-23, 2013
                                                                      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. Barth PG: Rhombencephalosynapsis: new findings in a larger study. Brain. 135(Pt 5):1346-7, 2012
                                                                      10. Bekiesińska-Figatowska M et al: Rhombencephalosynapsis - isolated anomaly or complex malformation? Pol J Radiol. 77(3):35-8, 2012
                                                                      11. 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
                                                                      12. Paprocka J et al: Isolated rhomboencephalosynapsis - a rare cerebellar anomaly. Pol J Radiol. 77(1):47-9, 2012
                                                                      13. Koprivsek KM et al: Partial rhombencephalosynapsis: prenatal MR imaging diagnosis and postnatal follow up. Acta Neurol Belg. 111(2):157-9, 2011
                                                                      14. Striano P et al: Rhombencephalosynapsis in a patient with mental retardation, epilepsy, and dysmorphisms. Neurol Sci. 32(1):193-4, 2011
                                                                      15. Sukhudyan B et al: Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria. Eur J Pediatr. 169(12):1523-8, 2010
                                                                      16. Takano T et al: Aprosencephaly with rhombencephalosynapsis and hamartomatous midbrain dysplasia. Neuropathol Appl Neurobiol. Epub ahead of print, 2010
                                                                      17. 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
                                                                      18. Koljonen V et al: Atypical craniosynostosis with torticollis and neurological symptoms: a rhombencephalosynapsis sequence. Case Rep Med. 2009:919463, 2009
                                                                      19. Kruer MC et al: Truncal ataxia, hypotonia, and motor delay with isolated rhombencephalosynapsis. Pediatr Neurol. 41(3):229-31, 2009
                                                                      20. Pasquier L et al: Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases. Acta Neuropathol. 117(2):185-200, 2009
                                                                      21. Poretti A et al: Cognitive outcome in children with rhombencephalosynapsis. Eur J Paediatr Neurol. 13(1):28-33, 2009
                                                                      22. di Vera E et al: Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy. J Assist Reprod Genet. 25(11-12):577-80, 2008
                                                                      23. McAuliffe F et al: Rhombencephalosynapsis: prenatal imaging and autopsy findings. Ultrasound Obstet Gynecol. 31(5):542-8, 2008
                                                                      24. Tan TY et al: Prenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature. Am J Med Genet A. 138(4):369-73, 2005
                                                                      25. Boltshauser E: Cerebellum-small brain but large confusion: a review of selected cerebellar malformations and disruptions. Am J Med Genet. 126A(4):376-85, 2004
                                                                      26. Napolitano M et al: Prenatal magnetic resonance imaging of rhombencephalosynapsis and associated brain anomalies: report of 3 cases. J Comput Assist Tomogr. 28(6):762-5, 2004
                                                                      27. Sener RN et al: Rhombencephalosynapsis and a Chiari II malformation. J Comput Assist Tomogr. 27(2):257-9, 2003
                                                                      28. Patel S et al: Analysis and classification of cerebellar malformations. AJNR Am J Neuroradiol. 23(7):1074-87, 2002
                                                                      29. Toelle SP et al: Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children. Neuropediatrics. 33(4):209-14, 2002
                                                                      30. Yachnis AT: Rhombencephalosynapsis with massive hydrocephalus: case report and pathogenetic considerations. Acta Neuropathol (Berl). 103(3):301-4, 2002