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Cerebellar Dysplastic Gangliocytoma
Luke L. Linscott, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          TERMINOLOGY

          • Synonyms

            • Lhermitte-Duclos disease (LDD)
              • Dysplastic cerebellar gangliocytoma, gangliocytoma dysplasticum, hamartoma of cerebellum
              • Hamartoblastoma, cerebelloparenchymal disorder 6, granule cell hypertrophy, granular cell hypertrophy, granulomolecular hypertrophy
              • Diffuse ganglioneuroma of cerebellar cortex, diffuse cerebellar hypertrophy, neurocytic blastoma, myelinated neurocytoma, purkinjeoma
            • Multiple hamartoma syndrome (MHAM)
              • Multiple hamartoma-neoplasia syndrome, Cowden disease, Cowden syndrome (CS), Cowden-Lhermitte-Duclos (COLD) syndrome
          • Definitions

            • LDD → neurologic manifestation of MHAM
              • Benign cerebellar lesion but unclear if neoplastic, malformative, or hamartomatous
              • Association between LDD and MHAM probably represents new neurocutaneous syndrome
            • MHAM
              • Autosomal dominant, variable expression, typically mutation in PTEN gene
                • PTEN is part of mTORC1 pathway, involved in cell proliferation and neoplasia
              • Hamartomatous neoplasms of skin (90-100%), mucosa, GI tract, bones, CNS, eyes, and GU tract
              • Associated with increased incidence of malignancy
              • Other types of tumors and vascular malformations may be present on MR

          IMAGING

          • General Features

            • Radiographic Findings

              • CT Findings

                • MR Findings

                  • Nuclear Medicine Findings

                    • Imaging Recommendations

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Staging, Grading, & Classification

                            • Gross Pathologic & Surgical Features

                              • Microscopic Features

                                CLINICAL ISSUES

                                • Presentation

                                  • Demographics

                                    • Natural History & Prognosis

                                      • Treatment

                                        DIAGNOSTIC CHECKLIST

                                        • Consider

                                          • Image Interpretation Pearls

                                            Selected References

                                            1. Dhamija R et al: Updated imaging features of dysplastic cerebellar gangliocytoma. J Comput Assist Tomogr. 43(2):277-81, 2019
                                            2. Ma J et al: Clinical perspective on dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). World Neurosurg. 122:16-23, 2019
                                            3. Jiang T et al: Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum) and Cowden syndrome: clinical experience from a single institution with long-term follow-up. World Neurosurg. 104:398-406, 2017
                                            4. Bosemani T et al: Pseudotumoral hemicerebellitis as a mimicker of Lhermitte-Duclos disease in children: does neuroimaging help to differentiate them? Childs Nerv Syst. 32(5):865-71, 2016
                                            5. Wei G et al: Teaching neuroimages: MRI appearances of Lhermitte-Duclos disease. Neurology. 80(6):e67-8, 2013
                                            6. Zou YH et al: Unusual posterior fossa mass caused by Lhermitte-Duclos disease with no symptoms in adults. Br J Neurosurg. 26(1):99-101, 2012
                                            7. Shinagare AB et al: Case 144: Dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease). Radiology. 251(1):298-303, 2009
                                            8. Cianfoni A et al: Morphological and functional MR imaging of Lhermitte-Duclos disease with pathology correlate. J Neuroradiol. 35(5):297-300, 2008
                                            9. Takei H et al: Anaplastic ganglioglioma arising from a Lhermitte-Duclos-like lesion. Case report. J Neurosurg. 107(2 Suppl):137-42, 2007
                                            10. Thomas B et al: Advanced MR imaging in Lhermitte-Duclos disease: moving closer to pathology and pathophysiology. Neuroradiology. 49(9):733-8, 2007
                                            11. Van Calenbergh F et al: Lhermitte-Duclos disease: 11C-methionine positron emission tomography data in 4 patients. Surg Neurol. 65(3):293-6; discussion 296-7, 2006
                                            12. Abel TW et al: Lhermitte-Duclos disease: a report of 31 cases with immunohistochemical analysis of the PTEN/AKT/mTOR pathway. J Neuropathol Exp Neurol. 64(4):341-9, 2005
                                            13. Lok C et al: Brain magnetic resonance imaging in patients with Cowden syndrome. Medicine (Baltimore). 84(2):129-36, 2005
                                            14. Padma MV et al: Functional imaging in Lhermitte-Duclose disease. Mol Imaging Biol. 6(5):319-23, 2004
                                            15. Buhl R et al: Dysplastic gangliocytoma of the cerebellum: rare differential diagnosis in space occupying lesions of the posterior fossa. Acta Neurochir (Wien). 145(6):509-12; discussion 512, 2003
                                            16. Capone Mori A et al: Lhermitte-Duclos disease in 3 children: a clinical long-term observation. Neuropediatrics. 34(1):30-5, 2003
                                            17. Klisch J et al: Lhermitte-Duclos disease: assessment with MR imaging, positron emission tomography, single-photon emission CT, and MR spectroscopy. AJNR Am J Neuroradiol. 22(5):824-30, 2001
                                            18. Ogasawara K et al: Blood flow and oxygen metabolism in a case of Lhermitte-Duclos disease: results of positron emission tomography. J Neurooncol. 55(1):59-61, 2001
                                            19. Robinson S et al: Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis. Neurosurgery. 46(2):371-83, 2000
                                            20. Murata J et al: Dysplastic gangliocytoma (Lhermitte-Duclos disease) associated with Cowden disease: report of a case and review of the literature for the genetic relationship between the two diseases. J Neurooncol. 41(2):129-36, 1999
                                            21. Awwad EE et al: Atypical MR appearance of Lhermitte-Duclos disease with contrast enhancement. AJNR Am J Neuroradiol. 16(8):1719-20, 1995
                                            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

                                                    • Synonyms

                                                      • Lhermitte-Duclos disease (LDD)
                                                        • Dysplastic cerebellar gangliocytoma, gangliocytoma dysplasticum, hamartoma of cerebellum
                                                        • Hamartoblastoma, cerebelloparenchymal disorder 6, granule cell hypertrophy, granular cell hypertrophy, granulomolecular hypertrophy
                                                        • Diffuse ganglioneuroma of cerebellar cortex, diffuse cerebellar hypertrophy, neurocytic blastoma, myelinated neurocytoma, purkinjeoma
                                                      • Multiple hamartoma syndrome (MHAM)
                                                        • Multiple hamartoma-neoplasia syndrome, Cowden disease, Cowden syndrome (CS), Cowden-Lhermitte-Duclos (COLD) syndrome
                                                    • Definitions

                                                      • LDD → neurologic manifestation of MHAM
                                                        • Benign cerebellar lesion but unclear if neoplastic, malformative, or hamartomatous
                                                        • Association between LDD and MHAM probably represents new neurocutaneous syndrome
                                                      • MHAM
                                                        • Autosomal dominant, variable expression, typically mutation in PTEN gene
                                                          • PTEN is part of mTORC1 pathway, involved in cell proliferation and neoplasia
                                                        • Hamartomatous neoplasms of skin (90-100%), mucosa, GI tract, bones, CNS, eyes, and GU tract
                                                        • Associated with increased incidence of malignancy
                                                        • Other types of tumors and vascular malformations may be present on MR

                                                    IMAGING

                                                    • General Features

                                                      • Radiographic Findings

                                                        • CT Findings

                                                          • MR Findings

                                                            • Nuclear Medicine Findings

                                                              • Imaging Recommendations

                                                                DIFFERENTIAL DIAGNOSIS

                                                                  PATHOLOGY

                                                                  • General Features

                                                                    • Staging, Grading, & Classification

                                                                      • Gross Pathologic & Surgical Features

                                                                        • Microscopic Features

                                                                          CLINICAL ISSUES

                                                                          • Presentation

                                                                            • Demographics

                                                                              • Natural History & Prognosis

                                                                                • Treatment

                                                                                  DIAGNOSTIC CHECKLIST

                                                                                  • Consider

                                                                                    • Image Interpretation Pearls

                                                                                      Selected References

                                                                                      1. Dhamija R et al: Updated imaging features of dysplastic cerebellar gangliocytoma. J Comput Assist Tomogr. 43(2):277-81, 2019
                                                                                      2. Ma J et al: Clinical perspective on dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). World Neurosurg. 122:16-23, 2019
                                                                                      3. Jiang T et al: Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum) and Cowden syndrome: clinical experience from a single institution with long-term follow-up. World Neurosurg. 104:398-406, 2017
                                                                                      4. Bosemani T et al: Pseudotumoral hemicerebellitis as a mimicker of Lhermitte-Duclos disease in children: does neuroimaging help to differentiate them? Childs Nerv Syst. 32(5):865-71, 2016
                                                                                      5. Wei G et al: Teaching neuroimages: MRI appearances of Lhermitte-Duclos disease. Neurology. 80(6):e67-8, 2013
                                                                                      6. Zou YH et al: Unusual posterior fossa mass caused by Lhermitte-Duclos disease with no symptoms in adults. Br J Neurosurg. 26(1):99-101, 2012
                                                                                      7. Shinagare AB et al: Case 144: Dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease). Radiology. 251(1):298-303, 2009
                                                                                      8. Cianfoni A et al: Morphological and functional MR imaging of Lhermitte-Duclos disease with pathology correlate. J Neuroradiol. 35(5):297-300, 2008
                                                                                      9. Takei H et al: Anaplastic ganglioglioma arising from a Lhermitte-Duclos-like lesion. Case report. J Neurosurg. 107(2 Suppl):137-42, 2007
                                                                                      10. Thomas B et al: Advanced MR imaging in Lhermitte-Duclos disease: moving closer to pathology and pathophysiology. Neuroradiology. 49(9):733-8, 2007
                                                                                      11. Van Calenbergh F et al: Lhermitte-Duclos disease: 11C-methionine positron emission tomography data in 4 patients. Surg Neurol. 65(3):293-6; discussion 296-7, 2006
                                                                                      12. Abel TW et al: Lhermitte-Duclos disease: a report of 31 cases with immunohistochemical analysis of the PTEN/AKT/mTOR pathway. J Neuropathol Exp Neurol. 64(4):341-9, 2005
                                                                                      13. Lok C et al: Brain magnetic resonance imaging in patients with Cowden syndrome. Medicine (Baltimore). 84(2):129-36, 2005
                                                                                      14. Padma MV et al: Functional imaging in Lhermitte-Duclose disease. Mol Imaging Biol. 6(5):319-23, 2004
                                                                                      15. Buhl R et al: Dysplastic gangliocytoma of the cerebellum: rare differential diagnosis in space occupying lesions of the posterior fossa. Acta Neurochir (Wien). 145(6):509-12; discussion 512, 2003
                                                                                      16. Capone Mori A et al: Lhermitte-Duclos disease in 3 children: a clinical long-term observation. Neuropediatrics. 34(1):30-5, 2003
                                                                                      17. Klisch J et al: Lhermitte-Duclos disease: assessment with MR imaging, positron emission tomography, single-photon emission CT, and MR spectroscopy. AJNR Am J Neuroradiol. 22(5):824-30, 2001
                                                                                      18. Ogasawara K et al: Blood flow and oxygen metabolism in a case of Lhermitte-Duclos disease: results of positron emission tomography. J Neurooncol. 55(1):59-61, 2001
                                                                                      19. Robinson S et al: Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis. Neurosurgery. 46(2):371-83, 2000
                                                                                      20. Murata J et al: Dysplastic gangliocytoma (Lhermitte-Duclos disease) associated with Cowden disease: report of a case and review of the literature for the genetic relationship between the two diseases. J Neurooncol. 41(2):129-36, 1999
                                                                                      21. Awwad EE et al: Atypical MR appearance of Lhermitte-Duclos disease with contrast enhancement. AJNR Am J Neuroradiol. 16(8):1719-20, 1995