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Lhermitte-Duclos Disease
Anne G. Osborn, MD, FACR; P. Ellen Grant, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            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, purkingeoma
              • Multiple hamartoma syndrome (MHAM)
                • Multiple hamartoma-neoplasia syndrome, Cowden disease, Cowden syndrome (CS), Cowden-Lhermitte-Duclos syndrome (COLD)
            • Definitions

              • Lhermitte-Duclos disease → neurological manifestation of MHAM
                • Benign cerebellar lesion but unclear if neoplastic, malformative, or hamartomatous
                • Association between LDD and MHAM probably represents new neurocutaneous syndrome
              • Multiple hamartoma syndrome
                • Autosomal dominant, variable expression, typically mutation in PTEN gene
                • Hamartomatous neoplasms of skin (90-100%), mucosa, GI tract, bones, CNS, eyes, and GU tract
                • Associated with increased incidence of malignancy

            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. Mester J et al: Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome. J Surg Oncol. 111(1):125-30, 2015
                                              2. Smpokou P et al: PTEN hamartoma tumour syndrome: early tumour development in children. Arch Dis Child. 100(1):34-7, 2015
                                              3. Syngal S et al: ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 110(2):223-62; quiz 263, 2015
                                              4. Tan MH et al: RE: Cowden syndrome and PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst. 106(6):dju130, 2014
                                              5. Vanderver A et al: Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. Am J Med Genet A. 164A(3):627-33, 2014
                                              6. Shinagare AB et al: Case 144: Dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease). Radiology. 251(1):298-303, 2009
                                              7. Cianfoni A et al: Morphological and functional MR imaging of Lhermitte-Duclos disease with pathology correlate. J Neuroradiol. 35(5):297-300, 2008
                                              8. Thomas B et al: Advanced MR imaging in Lhermitte-Duclos disease: moving closer to pathology and pathophysiology. Neuroradiology. 49(9):733-8, 2007
                                              9. 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
                                              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

                                                      • Diagnostic Checklist

                                                        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, purkingeoma
                                                          • Multiple hamartoma syndrome (MHAM)
                                                            • Multiple hamartoma-neoplasia syndrome, Cowden disease, Cowden syndrome (CS), Cowden-Lhermitte-Duclos syndrome (COLD)
                                                        • Definitions

                                                          • Lhermitte-Duclos disease → neurological manifestation of MHAM
                                                            • Benign cerebellar lesion but unclear if neoplastic, malformative, or hamartomatous
                                                            • Association between LDD and MHAM probably represents new neurocutaneous syndrome
                                                          • Multiple hamartoma syndrome
                                                            • Autosomal dominant, variable expression, typically mutation in PTEN gene
                                                            • Hamartomatous neoplasms of skin (90-100%), mucosa, GI tract, bones, CNS, eyes, and GU tract
                                                            • Associated with increased incidence of malignancy

                                                        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. Mester J et al: Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome. J Surg Oncol. 111(1):125-30, 2015
                                                                                          2. Smpokou P et al: PTEN hamartoma tumour syndrome: early tumour development in children. Arch Dis Child. 100(1):34-7, 2015
                                                                                          3. Syngal S et al: ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 110(2):223-62; quiz 263, 2015
                                                                                          4. Tan MH et al: RE: Cowden syndrome and PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst. 106(6):dju130, 2014
                                                                                          5. Vanderver A et al: Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. Am J Med Genet A. 164A(3):627-33, 2014
                                                                                          6. Shinagare AB et al: Case 144: Dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease). Radiology. 251(1):298-303, 2009
                                                                                          7. Cianfoni A et al: Morphological and functional MR imaging of Lhermitte-Duclos disease with pathology correlate. J Neuroradiol. 35(5):297-300, 2008
                                                                                          8. Thomas B et al: Advanced MR imaging in Lhermitte-Duclos disease: moving closer to pathology and pathophysiology. Neuroradiology. 49(9):733-8, 2007
                                                                                          9. 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