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Hypothalamic Hamartoma
Luke L. Linscott, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Synonyms

                • Hypothalamic hamartoma (HH), diencephalic hamartoma
              • Definitions

                • Nonneoplastic congenital gray matter heterotopia in region of tuber cinereum

              IMAGING

              • General Features

                • Radiographic Findings

                  • CT Findings

                    • MR 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. Du VX et al: Laser interstitial thermal therapy: a first line treatment for seizures due to hypothalamic hamartoma? Epilepsia. 58 Suppl 2:77-84, 2017
                                              2. Harrison VS et al: Hypothalamic hamartoma with epilepsy: review of endocrine comorbidity. Epilepsia. 58 Suppl 2:50-9, 2017
                                              3. Scholly J et al: Hypothalamic hamartoma: epileptogenesis beyond the lesion? Epilepsia. 58 Suppl 2:32-40, 2017
                                              4. Rolston JD et al: Stereotactic laser ablation for hypothalamic hamartoma. Neurosurg Clin N Am. 27(1):59-67, 2016
                                              5. Démurger F et al: New insights into genotype-phenotype correlation for GLI3 mutations. Eur J Hum Genet. 23(1):92-102, 2015
                                              6. Li CD et al: Classification of hypothalamic hamartoma and prognostic factors for surgical outcome. Acta Neurol Scand. 130(1):18-26, 2014
                                              7. Alves C et al: Giant hypothalamic hamartoma: case report and literature review. Childs Nerv Syst. 29(3):513-6, 2013
                                              8. Mittal S et al: Hypothalamic hamartomas. Part 1. Clinical, neuroimaging, and neurophysiological characteristics. Neurosurg Focus. 34(6):E6, 2013
                                              9. Pati S et al: Diagnosis and management of epilepsy associated with hypothalamic hamartoma: an evidence-based systematic review. J Child Neurol. 28(7):909-16, 2013
                                              10. Parvizi J et al: Gelastic epilepsy and hypothalamic hamartomas: neuroanatomical analysis of brain lesions in 100 patients. Brain. 134(Pt 10):2960-8, 2011
                                              11. Beggs J et al: Hypothalamic hamartomas associated with epilepsy: ultrastructural features. J Neuropathol Exp Neurol. 67(7):657-68, 2008
                                              12. Castro LH et al: Epilepsy syndromes associated with hypothalamic hamartomas. Seizure. 16(1):50-8, 2007
                                              13. Coons SW et al: The histopathology of hypothalamic hamartomas: study of 57 cases. J Neuropathol Exp Neurol. 66(2):131-41, 2007
                                              14. Amstutz DR et al: Hypothalamic hamartomas: correlation of MR imaging and spectroscopic findings with tumor glial content. AJNR Am J Neuroradiol. 27(4):794-8, 2006
                                              15. Trivin C et al: Presentation and evolution of organic central precocious puberty according to the type of CNS lesion. Clin Endocrinol (Oxf). 65(2):239-45, 2006
                                              16. Boudreau EA et al: Hypothalamic hamartomas and seizures: distinct natural history of isolated and Pallister-Hall syndrome cases. Epilepsia. 46(1):42-7, 2005
                                              17. Yamura M et al: Evaluation of small hypothalamic hamartomas with 3D constructive interference in steady state (CISS) sequence. Neuroradiology. 47(3):204-8, 2005
                                              18. Freeman JL et al: MR imaging and spectroscopic study of epileptogenic hypothalamic hamartomas: analysis of 72 cases. AJNR Am J Neuroradiol. 25(3):450-62, 2004
                                              19. Debeneix C et al: Hypothalamic hamartoma: comparison of clinical presentation and magnetic resonance images. Horm Res. 56(1-2):12-8, 2001
                                              20. Boyko OB et al: Hamartomas of the tuber cinereum: CT, MR, and pathologic findings. AJNR Am J Neuroradiol. 12(2):309-14, 1991
                                              Related Anatomy
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                                              Related Differential Diagnoses
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                                              References
                                              Tables

                                              Tables

                                              KEY FACTS

                                              • Terminology

                                                • Imaging

                                                  • Top Differential Diagnoses

                                                    • Pathology

                                                      • Clinical Issues

                                                        • Diagnostic Checklist

                                                          TERMINOLOGY

                                                          • Synonyms

                                                            • Hypothalamic hamartoma (HH), diencephalic hamartoma
                                                          • Definitions

                                                            • Nonneoplastic congenital gray matter heterotopia in region of tuber cinereum

                                                          IMAGING

                                                          • General Features

                                                            • Radiographic Findings

                                                              • CT Findings

                                                                • MR 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. Du VX et al: Laser interstitial thermal therapy: a first line treatment for seizures due to hypothalamic hamartoma? Epilepsia. 58 Suppl 2:77-84, 2017
                                                                                          2. Harrison VS et al: Hypothalamic hamartoma with epilepsy: review of endocrine comorbidity. Epilepsia. 58 Suppl 2:50-9, 2017
                                                                                          3. Scholly J et al: Hypothalamic hamartoma: epileptogenesis beyond the lesion? Epilepsia. 58 Suppl 2:32-40, 2017
                                                                                          4. Rolston JD et al: Stereotactic laser ablation for hypothalamic hamartoma. Neurosurg Clin N Am. 27(1):59-67, 2016
                                                                                          5. Démurger F et al: New insights into genotype-phenotype correlation for GLI3 mutations. Eur J Hum Genet. 23(1):92-102, 2015
                                                                                          6. Li CD et al: Classification of hypothalamic hamartoma and prognostic factors for surgical outcome. Acta Neurol Scand. 130(1):18-26, 2014
                                                                                          7. Alves C et al: Giant hypothalamic hamartoma: case report and literature review. Childs Nerv Syst. 29(3):513-6, 2013
                                                                                          8. Mittal S et al: Hypothalamic hamartomas. Part 1. Clinical, neuroimaging, and neurophysiological characteristics. Neurosurg Focus. 34(6):E6, 2013
                                                                                          9. Pati S et al: Diagnosis and management of epilepsy associated with hypothalamic hamartoma: an evidence-based systematic review. J Child Neurol. 28(7):909-16, 2013
                                                                                          10. Parvizi J et al: Gelastic epilepsy and hypothalamic hamartomas: neuroanatomical analysis of brain lesions in 100 patients. Brain. 134(Pt 10):2960-8, 2011
                                                                                          11. Beggs J et al: Hypothalamic hamartomas associated with epilepsy: ultrastructural features. J Neuropathol Exp Neurol. 67(7):657-68, 2008
                                                                                          12. Castro LH et al: Epilepsy syndromes associated with hypothalamic hamartomas. Seizure. 16(1):50-8, 2007
                                                                                          13. Coons SW et al: The histopathology of hypothalamic hamartomas: study of 57 cases. J Neuropathol Exp Neurol. 66(2):131-41, 2007
                                                                                          14. Amstutz DR et al: Hypothalamic hamartomas: correlation of MR imaging and spectroscopic findings with tumor glial content. AJNR Am J Neuroradiol. 27(4):794-8, 2006
                                                                                          15. Trivin C et al: Presentation and evolution of organic central precocious puberty according to the type of CNS lesion. Clin Endocrinol (Oxf). 65(2):239-45, 2006
                                                                                          16. Boudreau EA et al: Hypothalamic hamartomas and seizures: distinct natural history of isolated and Pallister-Hall syndrome cases. Epilepsia. 46(1):42-7, 2005
                                                                                          17. Yamura M et al: Evaluation of small hypothalamic hamartomas with 3D constructive interference in steady state (CISS) sequence. Neuroradiology. 47(3):204-8, 2005
                                                                                          18. Freeman JL et al: MR imaging and spectroscopic study of epileptogenic hypothalamic hamartomas: analysis of 72 cases. AJNR Am J Neuroradiol. 25(3):450-62, 2004
                                                                                          19. Debeneix C et al: Hypothalamic hamartoma: comparison of clinical presentation and magnetic resonance images. Horm Res. 56(1-2):12-8, 2001
                                                                                          20. Boyko OB et al: Hamartomas of the tuber cinereum: CT, MR, and pathologic findings. AJNR Am J Neuroradiol. 12(2):309-14, 1991