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Unclassified Cerebellar Dysplasias
Blaise V. Jones, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Synonyms

              • Diffuse cerebellar dysplasia
              • Cerebellar cortical dysplasia
            • Definitions

              • Focal or diffuse dysplasias of cerebellar hemispheres or vermis not associated with other known malformations or syndromes
                • Excludes Dandy-Walker spectrum, Lhermitte-Duclos disease, rhombencephalosynapsis, molar tooth malformations, and congenital muscular dystrophies

            IMAGING

            • General Features

              • CT Findings

                • MR Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Gross Pathologic & Surgical Features

                          • Microscopic Features

                            • Associated Findings

                              CLINICAL ISSUES

                              • Presentation

                                DIAGNOSTIC CHECKLIST

                                • Consider

                                  • Reporting Tips

                                    Selected References

                                    1. González G et al: Location of periventricular nodular heterotopia is related to the malformation phenotype on MRI. AJNR Am J Neuroradiol. 34(4):877-83, 2013
                                    2. Sajan SA et al: Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. PLoS Genet. 9(10):e1003823, 2013
                                    3. Massoud M et al: Prenatal diagnosis of cerebellar cortical dysplasia associated with abnormalities of foliation. Ultrasound Obstet Gynecol. 40(2):243-4, 2012
                                    4. Pereira ER et al: Cerebellar cortical dysplasia, chronic headache, and tremor in Proteus syndrome. Arq Neuropsiquiatr. 70(3):236, 2012
                                    5. Bolduc ME et al: Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review. Dev Med Child Neurol. 51(4):256-67, 2009
                                    6. Poretti A et al: Cerebellar cleft: a form of prenatal cerebellar disruption. Neuropediatrics. 39(2):106-12, 2008
                                    7. Demaerel P: Abnormalities of cerebellar foliation and fissuration: classification, neurogenetics and clinicoradiological correlations. Neuroradiology. 44(8):639-46, 2002
                                    8. Soto-Ares G et al: Cerebellar cortical dysplasia: MR findings in a complex entity. AJNR Am J Neuroradiol. 21(8):1511-9, 2000
                                    9. Barkovich AJ: Neuroimaging manifestations and classification of congenital muscular dystrophies. AJNR Am J Neuroradiol. 19(8):1389-96, 1998
                                    10. Demaerel P et al: MR of cerebellar cortical dysplasia. AJNR Am J Neuroradiol. 19(5):984-6, 1998
                                    11. Rorke LB et al: Cerebellar heterotopia in infancy. J Neuropathol Exp Neurol. 27(1):140-1, 1968
                                    Related Anatomy
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                                    Related Differential Diagnoses
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                                    References
                                    Tables

                                    Tables

                                    KEY FACTS

                                    • Terminology

                                      • Imaging

                                        • Pathology

                                          • Clinical Issues

                                            • Diagnostic Checklist

                                              TERMINOLOGY

                                              • Synonyms

                                                • Diffuse cerebellar dysplasia
                                                • Cerebellar cortical dysplasia
                                              • Definitions

                                                • Focal or diffuse dysplasias of cerebellar hemispheres or vermis not associated with other known malformations or syndromes
                                                  • Excludes Dandy-Walker spectrum, Lhermitte-Duclos disease, rhombencephalosynapsis, molar tooth malformations, and congenital muscular dystrophies

                                              IMAGING

                                              • General Features

                                                • CT Findings

                                                  • MR Findings

                                                    • Imaging Recommendations

                                                      DIFFERENTIAL DIAGNOSIS

                                                        PATHOLOGY

                                                        • General Features

                                                          • Gross Pathologic & Surgical Features

                                                            • Microscopic Features

                                                              • Associated Findings

                                                                CLINICAL ISSUES

                                                                • Presentation

                                                                  DIAGNOSTIC CHECKLIST

                                                                  • Consider

                                                                    • Reporting Tips

                                                                      Selected References

                                                                      1. González G et al: Location of periventricular nodular heterotopia is related to the malformation phenotype on MRI. AJNR Am J Neuroradiol. 34(4):877-83, 2013
                                                                      2. Sajan SA et al: Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. PLoS Genet. 9(10):e1003823, 2013
                                                                      3. Massoud M et al: Prenatal diagnosis of cerebellar cortical dysplasia associated with abnormalities of foliation. Ultrasound Obstet Gynecol. 40(2):243-4, 2012
                                                                      4. Pereira ER et al: Cerebellar cortical dysplasia, chronic headache, and tremor in Proteus syndrome. Arq Neuropsiquiatr. 70(3):236, 2012
                                                                      5. Bolduc ME et al: Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review. Dev Med Child Neurol. 51(4):256-67, 2009
                                                                      6. Poretti A et al: Cerebellar cleft: a form of prenatal cerebellar disruption. Neuropediatrics. 39(2):106-12, 2008
                                                                      7. Demaerel P: Abnormalities of cerebellar foliation and fissuration: classification, neurogenetics and clinicoradiological correlations. Neuroradiology. 44(8):639-46, 2002
                                                                      8. Soto-Ares G et al: Cerebellar cortical dysplasia: MR findings in a complex entity. AJNR Am J Neuroradiol. 21(8):1511-9, 2000
                                                                      9. Barkovich AJ: Neuroimaging manifestations and classification of congenital muscular dystrophies. AJNR Am J Neuroradiol. 19(8):1389-96, 1998
                                                                      10. Demaerel P et al: MR of cerebellar cortical dysplasia. AJNR Am J Neuroradiol. 19(5):984-6, 1998
                                                                      11. Rorke LB et al: Cerebellar heterotopia in infancy. J Neuropathol Exp Neurol. 27(1):140-1, 1968