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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 complete or partial absence of vermis
            • LDD: Focal enlargement of cerebellar cortex
              • Low-grade tumor vs. dysplasia: Molecular subtype (usually PTEN mutation) & location are distinct from gangliocytomas (WHO grade 1) in other locations
            • JSRD: Absence of decussation of superior cerebellar peduncles leading to molar tooth sign
              • Ciliopathy: Caused by mutation of genes encoding ciliary proteins

          IMAGING

          • General Features

            • 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. Haratz KK et al: Prenatal diagnosis of rhombencephalosynapsis: neuroimaging features and severity of vermian anomaly. Ultrasound Obstet Gynecol. ePub, 2021
                                          2. Surisetti BK et al: Clinical and imaging profile of patients with Joubert syndrome. J Mov Disord. 14(3):231-5, 2021
                                          3. Dhamija R et al: Imaging of PTEN-related abnormalities in the central nervous system. Clin Imaging. 60(2):180-5, 2020
                                          4. Barkovich AJ et al: Pediatric neuroimaging. 6th e. Philadelphia, PA. Wolter Kluwer, 2019
                                          5. Parisi MA: The molecular genetics of Joubert syndrome and related ciliopathies: the challenges of genetic and phenotypic heterogeneity. Transl Sci Rare Dis. 4(1-2):25-49, 2019
                                          6. Bosemani T et al: Congenital abnormalities of the posterior fossa. Radiographics. 35(1):200-20, 2015
                                          7. Keppler-Noreuil KM et al: PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A. 167A(2):287-95, 2015
                                          8. 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
                                          9. 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
                                          10. Shinagare AB et al: Case 144: dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease). Radiology. 251(1):298-303, 2009
                                          11. Kumar R et al: Lhermitte-Duclos disease. Childs Nerv Syst. 23(7):729-32, 2007
                                          12. van Beek EJ et al: Case 25: Joubert syndrome. Radiology. 216(2):379-82, 2000
                                          13. 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
                                          14. 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 complete or partial absence of vermis
                                                    • LDD: Focal enlargement of cerebellar cortex
                                                      • Low-grade tumor vs. dysplasia: Molecular subtype (usually PTEN mutation) & location are distinct from gangliocytomas (WHO grade 1) in other locations
                                                    • JSRD: Absence of decussation of superior cerebellar peduncles leading to molar tooth sign
                                                      • Ciliopathy: Caused by mutation of genes encoding ciliary proteins

                                                  IMAGING

                                                  • General Features

                                                    • 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. Haratz KK et al: Prenatal diagnosis of rhombencephalosynapsis: neuroimaging features and severity of vermian anomaly. Ultrasound Obstet Gynecol. ePub, 2021
                                                                                  2. Surisetti BK et al: Clinical and imaging profile of patients with Joubert syndrome. J Mov Disord. 14(3):231-5, 2021
                                                                                  3. Dhamija R et al: Imaging of PTEN-related abnormalities in the central nervous system. Clin Imaging. 60(2):180-5, 2020
                                                                                  4. Barkovich AJ et al: Pediatric neuroimaging. 6th e. Philadelphia, PA. Wolter Kluwer, 2019
                                                                                  5. Parisi MA: The molecular genetics of Joubert syndrome and related ciliopathies: the challenges of genetic and phenotypic heterogeneity. Transl Sci Rare Dis. 4(1-2):25-49, 2019
                                                                                  6. Bosemani T et al: Congenital abnormalities of the posterior fossa. Radiographics. 35(1):200-20, 2015
                                                                                  7. Keppler-Noreuil KM et al: PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A. 167A(2):287-95, 2015
                                                                                  8. 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
                                                                                  9. 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
                                                                                  10. Shinagare AB et al: Case 144: dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease). Radiology. 251(1):298-303, 2009
                                                                                  11. Kumar R et al: Lhermitte-Duclos disease. Childs Nerv Syst. 23(7):729-32, 2007
                                                                                  12. van Beek EJ et al: Case 25: Joubert syndrome. Radiology. 216(2):379-82, 2000
                                                                                  13. 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
                                                                                  14. Utsunomiya H et al: Rhombencephalosynapsis: cerebellar embryogenesis. AJNR Am J Neuroradiol. 19(3):547-9, 1998