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Unclassified Cerebellar Dysplasias
Usha D. Nagaraj, MD; Blaise V. Jones, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Synonyms

              • Cerebellar polymicrogyria, cerebellar heterotaxia
            • Definitions

              • Descriptive term referring to abnormal morphology of cerebellum not associated with other known posterior fossa malformations, syndromes, or pathologic spectrums
                • Excludes Dandy-Walker spectrum, Lhermitte-Duclos disease, rhombencephalosynapsis, Joubert syndrome and related disorders (JSRD) (a.k.a. molar tooth malformations), dystroglycanopathies, described genetic or nongenetic syndromes involving cerebellum and brainstem (e.g., PHACES, tubulinopathies, pontocerebellar hypoplasia)
                • Excludes infectious (e.g., cytomegalovirus), metabolic etiologies (including inherited, e.g., congenital disorders of glycosylation-1a), or sequelae of perinatal insult/injury (included infarct, hemorrhage, trauma)
              • Includes malformations and disruptions
                • Global findings suggest malformation
                • Focal findings suggest disruptive lesion

            IMAGING

            • General Features

              • CT Findings

                • MR Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Gross Pathologic & Surgical Features

                          • Microscopic Features

                            • Associated Findings

                              • Causes

                                CLINICAL ISSUES

                                • Presentation

                                  DIAGNOSTIC CHECKLIST

                                  • Consider

                                    • Reporting Tips

                                      Selected References

                                      1. Bosemani T et al: Congenital abnormalities of the posterior fossa. Radiographics. 35(1):200-20, 2015
                                      2. Massoud M et al: Prenatal unilateral cerebellar hypoplasia in a series of 26 cases: significance and implications for prenatal diagnosis. Ultrasound Obstet Gynecol. 44(4):447-54, 2014
                                      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. 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
                                      5. 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
                                      6. Massoud M et al: Prenatal diagnosis of cerebellar cortical dysplasia associated with abnormalities of foliation. Ultrasound Obstet Gynecol. 40(2):243-4, 2012
                                      7. Pereira ER et al: Cerebellar cortical dysplasia, chronic headache, and tremor in Proteus syndrome. Arq Neuropsiquiatr. 70(3):236, 2012
                                      8. Bolduc ME et al: Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review. Dev Med Child Neurol. 51(4):256-67, 2009
                                      9. Poretti A et al: Cerebellar cleft: a form of prenatal cerebellar disruption. Neuropediatrics. 39(2):106-12, 2008
                                      10. Demaerel P: Abnormalities of cerebellar foliation and fissuration: classification, neurogenetics and clinicoradiological correlations. Neuroradiology. 44(8):639-46, 2002
                                      11. Soto-Ares G et al: Cerebellar cortical dysplasia: MR findings in a complex entity. AJNR Am J Neuroradiol. 21(8):1511-9, 2000
                                      12. Barkovich AJ: Neuroimaging manifestations and classification of congenital muscular dystrophies. AJNR Am J Neuroradiol. 19(8):1389-96, 1998
                                      13. Demaerel P et al: MR of cerebellar cortical dysplasia. AJNR Am J Neuroradiol. 19(5):984-6, 1998
                                      14. 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

                                                  • Cerebellar polymicrogyria, cerebellar heterotaxia
                                                • Definitions

                                                  • Descriptive term referring to abnormal morphology of cerebellum not associated with other known posterior fossa malformations, syndromes, or pathologic spectrums
                                                    • Excludes Dandy-Walker spectrum, Lhermitte-Duclos disease, rhombencephalosynapsis, Joubert syndrome and related disorders (JSRD) (a.k.a. molar tooth malformations), dystroglycanopathies, described genetic or nongenetic syndromes involving cerebellum and brainstem (e.g., PHACES, tubulinopathies, pontocerebellar hypoplasia)
                                                    • Excludes infectious (e.g., cytomegalovirus), metabolic etiologies (including inherited, e.g., congenital disorders of glycosylation-1a), or sequelae of perinatal insult/injury (included infarct, hemorrhage, trauma)
                                                  • Includes malformations and disruptions
                                                    • Global findings suggest malformation
                                                    • Focal findings suggest disruptive lesion

                                                IMAGING

                                                • General Features

                                                  • CT Findings

                                                    • MR Findings

                                                      • Imaging Recommendations

                                                        DIFFERENTIAL DIAGNOSIS

                                                          PATHOLOGY

                                                          • General Features

                                                            • Gross Pathologic & Surgical Features

                                                              • Microscopic Features

                                                                • Associated Findings

                                                                  • Causes

                                                                    CLINICAL ISSUES

                                                                    • Presentation

                                                                      DIAGNOSTIC CHECKLIST

                                                                      • Consider

                                                                        • Reporting Tips

                                                                          Selected References

                                                                          1. Bosemani T et al: Congenital abnormalities of the posterior fossa. Radiographics. 35(1):200-20, 2015
                                                                          2. Massoud M et al: Prenatal unilateral cerebellar hypoplasia in a series of 26 cases: significance and implications for prenatal diagnosis. Ultrasound Obstet Gynecol. 44(4):447-54, 2014
                                                                          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. 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
                                                                          5. 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
                                                                          6. Massoud M et al: Prenatal diagnosis of cerebellar cortical dysplasia associated with abnormalities of foliation. Ultrasound Obstet Gynecol. 40(2):243-4, 2012
                                                                          7. Pereira ER et al: Cerebellar cortical dysplasia, chronic headache, and tremor in Proteus syndrome. Arq Neuropsiquiatr. 70(3):236, 2012
                                                                          8. Bolduc ME et al: Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review. Dev Med Child Neurol. 51(4):256-67, 2009
                                                                          9. Poretti A et al: Cerebellar cleft: a form of prenatal cerebellar disruption. Neuropediatrics. 39(2):106-12, 2008
                                                                          10. Demaerel P: Abnormalities of cerebellar foliation and fissuration: classification, neurogenetics and clinicoradiological correlations. Neuroradiology. 44(8):639-46, 2002
                                                                          11. Soto-Ares G et al: Cerebellar cortical dysplasia: MR findings in a complex entity. AJNR Am J Neuroradiol. 21(8):1511-9, 2000
                                                                          12. Barkovich AJ: Neuroimaging manifestations and classification of congenital muscular dystrophies. AJNR Am J Neuroradiol. 19(8):1389-96, 1998
                                                                          13. Demaerel P et al: MR of cerebellar cortical dysplasia. AJNR Am J Neuroradiol. 19(5):984-6, 1998
                                                                          14. Rorke LB et al: Cerebellar heterotopia in infancy. J Neuropathol Exp Neurol. 27(1):140-1, 1968