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Other Cerebellar Malformations
Usha D. Nagaraj, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          TERMINOLOGY

          • Abbreviations

            • Rhombencephalosynapsis (RS)
            • Lhermitte-Duclos disease (LDD)
            • Joubert syndrome & related disorders (JSRD)
          • Synonyms

            • LDD: Cowden syndrome, dysplastic cerebellar gangliocytoma, diffuse hypertrophy of cerebellar cortex
            • JSRD: Molar tooth malformation
          • Definitions

            • RS: Incomplete separation of cerebellar hemispheres with absence or hypoplasia of vermis
            • LDD: Focal enlargement (probably hamartomatous) of cerebellar cortex
            • JSRD: Absence of decussation of superior cerebellar peduncles leading to molar tooth sign

          IMAGING

          • General Features

            • Radiographic Findings

              • CT Findings

                • MR Findings

                  • Ultrasonographic Findings

                    • Imaging Recommendations

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Staging, Grading, & Classification

                            • Gross Pathologic & Surgical Features

                              CLINICAL ISSUES

                              • Presentation

                                • Demographics

                                  • Natural History & Prognosis

                                    • Treatment

                                      DIAGNOSTIC CHECKLIST

                                      • Consider

                                        • Image Interpretation Pearls

                                          • Reporting Tips

                                            Selected References

                                            1. 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
                                            2. Barkovich AJ et al: Pediatric neuroimaging. 5th e. Philadelphia, PA. Lippincott Williams & Wilkins. 473-83, 2012
                                            3. Poretti A et al: Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol. 32(8):1459-63, 2011
                                            4. Shinagare AB et al: Case 144: Dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease). Radiology. 251(1):298-303, 2009
                                            5. Kumar R et al: Lhermitte-Duclos disease. Childs Nerv Syst. 23(7):729-32, 2007
                                            6. van Beek EJ et al: Case 25: Joubert syndrome. Radiology. 216(2):379-82, 2000
                                            7. Quisling RG et al: Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome. J Child Neurol. 14(10):628-35; discussion 669-72, 1999
                                            8. Utsunomiya H et al: Rhombencephalosynapsis: cerebellar embryogenesis. AJNR Am J Neuroradiol. 19(3):547-9, 1998
                                            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

                                                    TERMINOLOGY

                                                    • Abbreviations

                                                      • Rhombencephalosynapsis (RS)
                                                      • Lhermitte-Duclos disease (LDD)
                                                      • Joubert syndrome & related disorders (JSRD)
                                                    • Synonyms

                                                      • LDD: Cowden syndrome, dysplastic cerebellar gangliocytoma, diffuse hypertrophy of cerebellar cortex
                                                      • JSRD: Molar tooth malformation
                                                    • Definitions

                                                      • RS: Incomplete separation of cerebellar hemispheres with absence or hypoplasia of vermis
                                                      • LDD: Focal enlargement (probably hamartomatous) of cerebellar cortex
                                                      • JSRD: Absence of decussation of superior cerebellar peduncles leading to molar tooth sign

                                                    IMAGING

                                                    • General Features

                                                      • Radiographic Findings

                                                        • CT Findings

                                                          • MR Findings

                                                            • Ultrasonographic Findings

                                                              • Imaging Recommendations

                                                                DIFFERENTIAL DIAGNOSIS

                                                                  PATHOLOGY

                                                                  • General Features

                                                                    • Staging, Grading, & Classification

                                                                      • Gross Pathologic & Surgical Features

                                                                        CLINICAL ISSUES

                                                                        • Presentation

                                                                          • Demographics

                                                                            • Natural History & Prognosis

                                                                              • Treatment

                                                                                DIAGNOSTIC CHECKLIST

                                                                                • Consider

                                                                                  • Image Interpretation Pearls

                                                                                    • Reporting Tips

                                                                                      Selected References

                                                                                      1. 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
                                                                                      2. Barkovich AJ et al: Pediatric neuroimaging. 5th e. Philadelphia, PA. Lippincott Williams & Wilkins. 473-83, 2012
                                                                                      3. Poretti A et al: Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol. 32(8):1459-63, 2011
                                                                                      4. Shinagare AB et al: Case 144: Dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease). Radiology. 251(1):298-303, 2009
                                                                                      5. Kumar R et al: Lhermitte-Duclos disease. Childs Nerv Syst. 23(7):729-32, 2007
                                                                                      6. van Beek EJ et al: Case 25: Joubert syndrome. Radiology. 216(2):379-82, 2000
                                                                                      7. Quisling RG et al: Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome. J Child Neurol. 14(10):628-35; discussion 669-72, 1999
                                                                                      8. Utsunomiya H et al: Rhombencephalosynapsis: cerebellar embryogenesis. AJNR Am J Neuroradiol. 19(3):547-9, 1998