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Cerebellar Hypoplasia
Anne M. Kennedy, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Definitions

              • Hypoplasia refers to small but complete anatomical structure with congenital volume diminution
              • Atrophy refers to initially normal cerebellum with progressive increase in size of fissures compared to size of folia
              • Agenesis refers to absence of structure; may be partial or complete

            IMAGING

            • General Features

              • Ultrasonographic Findings

                • MR Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        CLINICAL ISSUES

                        • Presentation

                          • Natural History & Prognosis

                            DIAGNOSTIC CHECKLIST

                            • Image Interpretation Pearls

                              • Reporting Tips

                                Selected References

                                1. D'Antonio F et al: Systematic review and meta-analysis of isolated posterior fossa malformations on prenatal ultrasound: Nomenclature, diagnostic accuracy and associated anomalies. Ultrasound Obstet Gynecol. ePub, 2015
                                2. D'Antonio F et al: Systematic review and meta-analysis of isolated posterior fossa malformations on prenatal imaging (part 2): neurodevelopmental outcome. Ultrasound Obstet Gynecol. ePub, 2015
                                3. Fiori S et al: Diffusion Tractography Biomarkers of Pediatric Cerebellar Hypoplasia/Atrophy: Preliminary Results Using Constrained Spherical Deconvolution. AJNR Am J Neuroradiol. ePub, 2015
                                4. Hayata K et al: Creation of a cerebellar diameter reference standard and its clinical application to the detection of cerebellar hypoplasia unique to trisomy 18. J Obstet Gynaecol Res. ePub, 2015
                                5. Murakami A et al: A morphometric study to establish criteria for fetal and neonatal cerebellar hypoplasia: A special emphasis on trisomy 18. Pathol Int. ePub, 2015
                                6. Pinto J et al: Delayed rotation of the cerebellar vermis: an important pitfall in early second trimester fetal MR imaging studies. Ultrasound Obstet Gynecol. ePub, 2015
                                7. Poretti A et al: Pre- and Postnatal Neuroimaging of Congenital Cerebellar Abnormalities. Cerebellum. ePub, 2015
                                8. Poretti A et al: Differential Diagnosis of Cerebellar Atrophy in Childhood: An Update. Neuropediatrics. 46(6):359-70, 2015
                                9. Takano M et al: Ratio of fetal anteroposterior to transverse cerebellar diameter for detection of the cerebellar hypoplasia in the second trimester and comparison with trisomy 18. J Obstet Gynaecol Res. 41(11):1757-61, 2015
                                10. Poretti A et al: Outcome of severe unilateral cerebellar hypoplasia. Dev Med Child Neurol. 52(8):718-24, 2010
                                11. Kapur RP et al: Normal and abnormal anatomy of the cerebellar vermis in midgestational human fetuses. Birth Defects Res A Clin Mol Teratol. 85(8):700-9, 2009
                                12. Malinger G et al: The fetal cerebellum. Pitfalls in diagnosis and management. Prenat Diagn. 29(4):372-80, 2009
                                13. Sherer DM et al: Nomograms of the axial fetal cerebellar hemisphere circumference and area throughout gestation. Ultrasound Obstet Gynecol. 29(1):32-7, 2007
                                14. Tilea B et al: Comparison between magnetic resonance imaging and fetopathology in the evaluation of fetal posterior fossa non-cystic abnormalities. Ultrasound Obstet Gynecol. 29(6):651-9, 2007
                                15. Guibaud L et al: Plea for an anatomical approach to abnormalities of the posterior fossa in prenatal diagnosis. Ultrasound Obstet Gynecol. 27(5):477-81, 2006
                                16. Limperopoulos C et al: Diagnosis of inferior vermian hypoplasia by fetal magnetic resonance imaging: potential pitfalls and neurodevelopmental outcome. Am J Obstet Gynecol. 194(4):1070-6, 2006
                                17. Paladini D et al: Posterior fossa and vermian morphometry in the characterization of fetal cerebellar abnormalities: a prospective three-dimensional ultrasound study. Ultrasound Obstet Gynecol. 27(5):482-9, 2006
                                18. Siebert JR: A pathological approach to anomalies of the posterior fossa. Birth Defects Res A Clin Mol Teratol. 76(9):674-84, 2006
                                19. Zalel Y et al: The development of the fetal vermis: an in-utero sonographic evaluation. Ultrasound Obstet Gynecol. 19(2):136-9, 2002
                                20. Malinger G et al: The fetal cerebellar vermis: normal development as shown by transvaginal ultrasound. Prenat Diagn. 21(8):687-92, 2001
                                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

                                          • Definitions

                                            • Hypoplasia refers to small but complete anatomical structure with congenital volume diminution
                                            • Atrophy refers to initially normal cerebellum with progressive increase in size of fissures compared to size of folia
                                            • Agenesis refers to absence of structure; may be partial or complete

                                          IMAGING

                                          • General Features

                                            • Ultrasonographic Findings

                                              • MR Findings

                                                • Imaging Recommendations

                                                  DIFFERENTIAL DIAGNOSIS

                                                    PATHOLOGY

                                                    • General Features

                                                      CLINICAL ISSUES

                                                      • Presentation

                                                        • Natural History & Prognosis

                                                          DIAGNOSTIC CHECKLIST

                                                          • Image Interpretation Pearls

                                                            • Reporting Tips

                                                              Selected References

                                                              1. D'Antonio F et al: Systematic review and meta-analysis of isolated posterior fossa malformations on prenatal ultrasound: Nomenclature, diagnostic accuracy and associated anomalies. Ultrasound Obstet Gynecol. ePub, 2015
                                                              2. D'Antonio F et al: Systematic review and meta-analysis of isolated posterior fossa malformations on prenatal imaging (part 2): neurodevelopmental outcome. Ultrasound Obstet Gynecol. ePub, 2015
                                                              3. Fiori S et al: Diffusion Tractography Biomarkers of Pediatric Cerebellar Hypoplasia/Atrophy: Preliminary Results Using Constrained Spherical Deconvolution. AJNR Am J Neuroradiol. ePub, 2015
                                                              4. Hayata K et al: Creation of a cerebellar diameter reference standard and its clinical application to the detection of cerebellar hypoplasia unique to trisomy 18. J Obstet Gynaecol Res. ePub, 2015
                                                              5. Murakami A et al: A morphometric study to establish criteria for fetal and neonatal cerebellar hypoplasia: A special emphasis on trisomy 18. Pathol Int. ePub, 2015
                                                              6. Pinto J et al: Delayed rotation of the cerebellar vermis: an important pitfall in early second trimester fetal MR imaging studies. Ultrasound Obstet Gynecol. ePub, 2015
                                                              7. Poretti A et al: Pre- and Postnatal Neuroimaging of Congenital Cerebellar Abnormalities. Cerebellum. ePub, 2015
                                                              8. Poretti A et al: Differential Diagnosis of Cerebellar Atrophy in Childhood: An Update. Neuropediatrics. 46(6):359-70, 2015
                                                              9. Takano M et al: Ratio of fetal anteroposterior to transverse cerebellar diameter for detection of the cerebellar hypoplasia in the second trimester and comparison with trisomy 18. J Obstet Gynaecol Res. 41(11):1757-61, 2015
                                                              10. Poretti A et al: Outcome of severe unilateral cerebellar hypoplasia. Dev Med Child Neurol. 52(8):718-24, 2010
                                                              11. Kapur RP et al: Normal and abnormal anatomy of the cerebellar vermis in midgestational human fetuses. Birth Defects Res A Clin Mol Teratol. 85(8):700-9, 2009
                                                              12. Malinger G et al: The fetal cerebellum. Pitfalls in diagnosis and management. Prenat Diagn. 29(4):372-80, 2009
                                                              13. Sherer DM et al: Nomograms of the axial fetal cerebellar hemisphere circumference and area throughout gestation. Ultrasound Obstet Gynecol. 29(1):32-7, 2007
                                                              14. Tilea B et al: Comparison between magnetic resonance imaging and fetopathology in the evaluation of fetal posterior fossa non-cystic abnormalities. Ultrasound Obstet Gynecol. 29(6):651-9, 2007
                                                              15. Guibaud L et al: Plea for an anatomical approach to abnormalities of the posterior fossa in prenatal diagnosis. Ultrasound Obstet Gynecol. 27(5):477-81, 2006
                                                              16. Limperopoulos C et al: Diagnosis of inferior vermian hypoplasia by fetal magnetic resonance imaging: potential pitfalls and neurodevelopmental outcome. Am J Obstet Gynecol. 194(4):1070-6, 2006
                                                              17. Paladini D et al: Posterior fossa and vermian morphometry in the characterization of fetal cerebellar abnormalities: a prospective three-dimensional ultrasound study. Ultrasound Obstet Gynecol. 27(5):482-9, 2006
                                                              18. Siebert JR: A pathological approach to anomalies of the posterior fossa. Birth Defects Res A Clin Mol Teratol. 76(9):674-84, 2006
                                                              19. Zalel Y et al: The development of the fetal vermis: an in-utero sonographic evaluation. Ultrasound Obstet Gynecol. 19(2):136-9, 2002
                                                              20. Malinger G et al: The fetal cerebellar vermis: normal development as shown by transvaginal ultrasound. Prenat Diagn. 21(8):687-92, 2001