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Cerebellar Hypoplasia
Anne 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
                • Vermian, global, unilateral, pontocerebellar subtypes
              • 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 (dysgenesis) or complete

            IMAGING

            • 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. Aldinger KA et al: Redefining the etiologic landscape of cerebellar malformations. Am J Hum Genet. 105(3):606-15, 2019
                              2. Atallah A et al: Fetal and perinatal outcome associated with small cerebellar diameter based on second- or third-trimester ultrasonography. Prenat Diagn. 39(7):536-43, 2019
                              3. Pertl B et al: The fetal posterior fossa on prenatal ultrasound imaging: normal longitudinal development and posterior fossa anomalies. Ultraschall Med. 40(6):692-721, 2019
                              4. Pinchefsky EF et al: Developmental outcomes in children with congenital cerebellar malformations. Dev Med Child Neurol. 61(3):350-8, 2019
                              5. Gonçalves FG et al: Tubulinopathies. Top Magn Reson Imaging. 27(6):395-408, 2018
                              6. Leibovitz Z et al: The cerebellar "tilted telephone receiver sign" enables prenatal diagnosis of PHACES syndrome. Eur J Paediatr Neurol. 22(6):900-9, 2018
                              7. Zou Z et al: Prenatal diagnosis of posterior fossa anomalies: additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia. Prenat Diagn. 38(2):91-8, 2018
                              8. 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. 47(6):690-7, 2016
                              9. 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. 48(1):28-37, 2016
                              10. Murakami A et al: A morphometric study to establish criteria for fetal and neonatal cerebellar hypoplasia: a special emphasis on trisomy 18. Pathol Int. 66(1):15-22, 2016
                              11. Pinto J et al: Delayed rotation of the cerebellar vermis: an important pitfall in early second trimester fetal MR imaging studies. Ultrasound Obstet Gynecol. 48(1):121-4, 2016
                              12. Poretti A et al: Pre- and postnatal neuroimaging of congenital cerebellar abnormalities. Cerebellum. 15(1):5-9, 2016
                              13. 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. 41(12):1899-904, 2015
                              14. 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
                              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
                                            • Vermian, global, unilateral, pontocerebellar subtypes
                                          • 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 (dysgenesis) or complete

                                        IMAGING

                                        • 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. Aldinger KA et al: Redefining the etiologic landscape of cerebellar malformations. Am J Hum Genet. 105(3):606-15, 2019
                                                          2. Atallah A et al: Fetal and perinatal outcome associated with small cerebellar diameter based on second- or third-trimester ultrasonography. Prenat Diagn. 39(7):536-43, 2019
                                                          3. Pertl B et al: The fetal posterior fossa on prenatal ultrasound imaging: normal longitudinal development and posterior fossa anomalies. Ultraschall Med. 40(6):692-721, 2019
                                                          4. Pinchefsky EF et al: Developmental outcomes in children with congenital cerebellar malformations. Dev Med Child Neurol. 61(3):350-8, 2019
                                                          5. Gonçalves FG et al: Tubulinopathies. Top Magn Reson Imaging. 27(6):395-408, 2018
                                                          6. Leibovitz Z et al: The cerebellar "tilted telephone receiver sign" enables prenatal diagnosis of PHACES syndrome. Eur J Paediatr Neurol. 22(6):900-9, 2018
                                                          7. Zou Z et al: Prenatal diagnosis of posterior fossa anomalies: additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia. Prenat Diagn. 38(2):91-8, 2018
                                                          8. 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. 47(6):690-7, 2016
                                                          9. 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. 48(1):28-37, 2016
                                                          10. Murakami A et al: A morphometric study to establish criteria for fetal and neonatal cerebellar hypoplasia: a special emphasis on trisomy 18. Pathol Int. 66(1):15-22, 2016
                                                          11. Pinto J et al: Delayed rotation of the cerebellar vermis: an important pitfall in early second trimester fetal MR imaging studies. Ultrasound Obstet Gynecol. 48(1):121-4, 2016
                                                          12. Poretti A et al: Pre- and postnatal neuroimaging of congenital cerebellar abnormalities. Cerebellum. 15(1):5-9, 2016
                                                          13. 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. 41(12):1899-904, 2015
                                                          14. 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