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Hypothalamic Hamartoma
Karen L. Salzman, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Synonyms

                • Tuber cinereum hamartoma, diencephalic hamartoma
              • Definitions

                • Nonneoplastic congenital gray matter heterotopia in region of tuber cinereum of hypothalamus

              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. Bourdillon P et al: Surgical treatment of hypothalamic hamartomas. Neurosurg Rev. ePub, 2020
                                              2. Gadgil N et al: Staged magnetic resonance-guided laser interstitial thermal therapy for hypothalamic hamartoma: analysis of ablation volumes and morphological considerations. Neurosurgery. 86(6):808-16, 2020
                                              3. Roodakker KR et al: Ecstatic and gelastic seizures relate to the hypothalamus. Epilepsy Behav Rep. 14:100358, 2020
                                              4. Wang S et al: Stereotactic radiofrequency thermocoagulation and resective surgery for patients with hypothalamic hamartoma. J Neurosurg. 1-8, 2020
                                              5. Youngerman BE et al: Magnetic resonance imaging-guided laser interstitial thermal therapy for epilepsy: systematic review of technique, indications, and outcomes. Neurosurgery. 86(4):E366-82, 2020
                                              6. Ferrand-Sorbets S et al: Seizure outcome and prognostic factors for surgical management of hypothalamic hamartomas in children. Seizure. 75:28-33, 2019
                                              7. Fujita A et al: Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma. Neurology. 93(3):e237-51, 2019
                                              8. Ler GYL et al: Teaching NeuroImages: hypothalamic hamartoma and polydactyly: think Pallister-Hall syndrome. Neurology. 93(23):e1016-7, 2019
                                              9. Roland JL et al: Recent advances in the neurosurgical treatment of pediatric epilepsy: JNSPG 75th Anniversary Invited Review Article J Neurosurg Pediatr. 23(4):411-21, 2019
                                              10. Fayed I et al: MR-guided laser interstitial thermal therapy for medically refractory lesional epilepsy in pediatric patients: experience and outcomes. Pediatr Neurosurg. 53(5):322-9, 2018
                                              11. 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
                                              12. Démurger F et al: New insights into genotype-phenotype correlation for GLI3 mutations. Eur J Hum Genet. 23(1):92-102, 2015
                                              13. Wu J et al: Mechanisms of intrinsic epileptogenesis in human gelastic seizures with hypothalamic hamartoma. CNS Neurosci Ther. 21(2):104-11, 2015
                                              14. Li CD et al: Classification of hypothalamic hamartoma and prognostic factors for surgical outcome. Acta Neurol Scand. 130(1):18-26, 2014
                                              15. Alves C et al: Giant hypothalamic hamartoma: case report and literature review. Childs Nerv Syst. 29(3):513-6, 2013
                                              16. Mittal S et al: Hypothalamic hamartomas. Part 1. Clinical, neuroimaging, and neurophysiological characteristics. Neurosurg Focus. 34(6):E6, 2013
                                              17. 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
                                              18. Parvizi J et al: Gelastic epilepsy and hypothalamic hamartomas: neuroanatomical analysis of brain lesions in 100 patients. Brain. 134(Pt 10):2960-8, 2011
                                              19. Beggs J et al: Hypothalamic hamartomas associated with epilepsy: ultrastructural features. J Neuropathol Exp Neurol. 67(7):657-68, 2008
                                              20. Kos S et al: Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome. Pediatr Radiol. 38(8):902-6, 2008
                                              21. Ng YT et al: Endoscopic resection of hypothalamic hamartomas for refractory symptomatic epilepsy. Neurology. 70(17):1543-8, 2008
                                              22. Ng YT: Clarification of the term "status gelasticus" and treatment and prognosis of gelastic seizures. Pediatr Neurol. 38(4):300-1; author reply 301-2, 2008
                                              23. Parent AS et al: Gene expression profiling of hypothalamic hamartomas: a search for genes associated with central precocious puberty. Horm Res. 69(2):114-23, 2008
                                              24. Pleasure SJ et al: Hypothalamic hamartomas and hedgehogs: not a laughing matter. Neurology. 70(8):588-9, 2008
                                              25. Prigatano GP et al: Intellectual functioning in presurgical patients with hypothalamic hamartoma and refractory epilepsy. Epilepsy Behav. 13(1):149-55, 2008
                                              26. Romanelli P et al: Radiosurgery for hypothalamic hamartomas. Neurosurg Focus. 24(5):E9, 2008
                                              27. Schulze-Bonhage A et al: Outcome and predictors of interstitial radiosurgery in the treatment of gelastic epilepsy. Neurology. 71(4):277-82, 2008
                                              28. Shahar E et al: Intractable gelastic seizures during infancy: ictal positron emission tomography (PET) demonstrating epileptiform activity within the hypothalamic hamartoma. J Child Neurol. 23(2):235-9, 2008
                                              29. Shim KW et al: Treatment modality for intractable epilepsy in hypothalamic hamartomatous lesions. Neurosurgery. 62(4):847-56; discussion 856, 2008
                                              30. Castori M et al: Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) association. Am J Med Genet A. 143(3):277-84, 2007
                                              31. Castro LH et al: Epilepsy syndromes associated with hypothalamic hamartomas. Seizure. 16(1):50-8, 2007
                                              32. Cheung CS et al: Gelastic seizures: not always hypothalamic hamartoma. Epileptic Disord. 9(4):453-8, 2007
                                              33. Coons SW et al: The histopathology of hypothalamic hamartomas: study of 57 cases. J Neuropathol Exp Neurol. 66(2):131-41, 2007
                                              34. Homma J et al: Stereotactic radiofrequency thermocoagulation for hypothalamic hamartoma with intractable gelastic seizures. Epilepsy Res. 76(1):15-21, 2007
                                              35. Kerrigan JF et al: Hypothalamic hamartoma and infantile spasms. Epilepsia. 48(1):89-95, 2007
                                              36. Régis J et al: Gamma knife surgery for epilepsy related to hypothalamic hamartomas. Semin Pediatr Neurol. 14(2):73-9, 2007
                                              37. Rosenfeld JV et al: Hypothalamic hamartoma treatment: surgical resection with the transcallosal approach. Semin Pediatr Neurol. 14(2):88-98, 2007
                                              38. Schulze-Bonhage A et al: Treatment options for gelastic epilepsy due to hypothalamic hamartoma: interstitial radiosurgery. Semin Pediatr Neurol. 14(2):80-7, 2007
                                              39. Shahar E et al: Pediatric-onset gelastic seizures: clinical data and outcome. Pediatr Neurol. 37(1):29-34, 2007
                                              40. Veendrick-Meekes MJ et al: Neuropsychiatric aspects of patients with hypothalamic hamartomas. Epilepsy Behav. 11(2):218-21, 2007
                                              41. Vieira TC et al: Central precocious puberty associated with pituitary duplication and midline defects. J Pediatr Endocrinol Metab. 20(10):1141-4, 2007
                                              42. Ali S et al: Psychiatric comorbidity in adult patients with hypothalamic hamartoma. Epilepsy Behav. 9(1):111-8, 2006
                                              43. 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
                                              44. Maixner W: Hypothalamic hamartomas--clinical, neuropathological and surgical aspects. Childs Nerv Syst. 22(8):867-73, 2006
                                              45. Procaccini E et al: Surgical management of hypothalamic hamartomas with epilepsy: the stereoendoscopic approach. Neurosurgery. 59(4 Suppl 2):ONS336-44; discussion ONS344-6, 2006
                                              46. 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
                                              47. Boudreau EA et al: Hypothalamic hamartomas and seizures: distinct natural history of isolated and Pallister-Hall syndrome cases. Epilepsia. 46(1):42-7, 2005
                                              48. Kizilkilic O et al: Hypothalamic hamartoma associated with a craniopharyngeal canal. AJNR Am J Neuroradiol. 26(1):65-7, 2005
                                              49. Saxonhouse MA et al: Neonatal hypothalamic hamartoma: a differentiating nonlethal hamartoblastoma. J Neurosurg. 103(3 Suppl):277-81, 2005
                                              50. Striano S et al: The clinical spectrum and natural history of gelastic epilepsy-hypothalamic hamartoma syndrome. Seizure. 14(4):232-9, 2005
                                              51. Yamura M et al: Evaluation of small hypothalamic hamartomas with 3D constructive interference in steady state (CISS) sequence. Neuroradiology. 47(3):204-8, 2005
                                              52. Booth TN et al: Pre- and postnatal MR imaging of hypothalamic hamartomas associated with arachnoid cysts. AJNR Am J Neuroradiol. 25(7):1283-5, 2004
                                              53. 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
                                              54. Voyadzis JM et al: Hypothalamic hamartoma secreting corticotropin-releasing hormone. Case report. J Neurosurg. 100(2 Suppl Pediatrics):212-6, 2004
                                              55. Freeman JL: The anatomy and embryology of the hypothalamus in relation to hypothalamic hamartomas. Epileptic Disord. 5(4):177-86, 2003
                                              56. Mullatti N et al: The clinical spectrum of epilepsy in children and adults with hypothalamic hamartoma. Epilepsia. 44(10):1310-9, 2003
                                              57. 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

                                                            • Tuber cinereum hamartoma, diencephalic hamartoma
                                                          • Definitions

                                                            • Nonneoplastic congenital gray matter heterotopia in region of tuber cinereum of hypothalamus

                                                          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. Bourdillon P et al: Surgical treatment of hypothalamic hamartomas. Neurosurg Rev. ePub, 2020
                                                                                          2. Gadgil N et al: Staged magnetic resonance-guided laser interstitial thermal therapy for hypothalamic hamartoma: analysis of ablation volumes and morphological considerations. Neurosurgery. 86(6):808-16, 2020
                                                                                          3. Roodakker KR et al: Ecstatic and gelastic seizures relate to the hypothalamus. Epilepsy Behav Rep. 14:100358, 2020
                                                                                          4. Wang S et al: Stereotactic radiofrequency thermocoagulation and resective surgery for patients with hypothalamic hamartoma. J Neurosurg. 1-8, 2020
                                                                                          5. Youngerman BE et al: Magnetic resonance imaging-guided laser interstitial thermal therapy for epilepsy: systematic review of technique, indications, and outcomes. Neurosurgery. 86(4):E366-82, 2020
                                                                                          6. Ferrand-Sorbets S et al: Seizure outcome and prognostic factors for surgical management of hypothalamic hamartomas in children. Seizure. 75:28-33, 2019
                                                                                          7. Fujita A et al: Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma. Neurology. 93(3):e237-51, 2019
                                                                                          8. Ler GYL et al: Teaching NeuroImages: hypothalamic hamartoma and polydactyly: think Pallister-Hall syndrome. Neurology. 93(23):e1016-7, 2019
                                                                                          9. Roland JL et al: Recent advances in the neurosurgical treatment of pediatric epilepsy: JNSPG 75th Anniversary Invited Review Article J Neurosurg Pediatr. 23(4):411-21, 2019
                                                                                          10. Fayed I et al: MR-guided laser interstitial thermal therapy for medically refractory lesional epilepsy in pediatric patients: experience and outcomes. Pediatr Neurosurg. 53(5):322-9, 2018
                                                                                          11. 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
                                                                                          12. Démurger F et al: New insights into genotype-phenotype correlation for GLI3 mutations. Eur J Hum Genet. 23(1):92-102, 2015
                                                                                          13. Wu J et al: Mechanisms of intrinsic epileptogenesis in human gelastic seizures with hypothalamic hamartoma. CNS Neurosci Ther. 21(2):104-11, 2015
                                                                                          14. Li CD et al: Classification of hypothalamic hamartoma and prognostic factors for surgical outcome. Acta Neurol Scand. 130(1):18-26, 2014
                                                                                          15. Alves C et al: Giant hypothalamic hamartoma: case report and literature review. Childs Nerv Syst. 29(3):513-6, 2013
                                                                                          16. Mittal S et al: Hypothalamic hamartomas. Part 1. Clinical, neuroimaging, and neurophysiological characteristics. Neurosurg Focus. 34(6):E6, 2013
                                                                                          17. 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
                                                                                          18. Parvizi J et al: Gelastic epilepsy and hypothalamic hamartomas: neuroanatomical analysis of brain lesions in 100 patients. Brain. 134(Pt 10):2960-8, 2011
                                                                                          19. Beggs J et al: Hypothalamic hamartomas associated with epilepsy: ultrastructural features. J Neuropathol Exp Neurol. 67(7):657-68, 2008
                                                                                          20. Kos S et al: Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome. Pediatr Radiol. 38(8):902-6, 2008
                                                                                          21. Ng YT et al: Endoscopic resection of hypothalamic hamartomas for refractory symptomatic epilepsy. Neurology. 70(17):1543-8, 2008
                                                                                          22. Ng YT: Clarification of the term "status gelasticus" and treatment and prognosis of gelastic seizures. Pediatr Neurol. 38(4):300-1; author reply 301-2, 2008
                                                                                          23. Parent AS et al: Gene expression profiling of hypothalamic hamartomas: a search for genes associated with central precocious puberty. Horm Res. 69(2):114-23, 2008
                                                                                          24. Pleasure SJ et al: Hypothalamic hamartomas and hedgehogs: not a laughing matter. Neurology. 70(8):588-9, 2008
                                                                                          25. Prigatano GP et al: Intellectual functioning in presurgical patients with hypothalamic hamartoma and refractory epilepsy. Epilepsy Behav. 13(1):149-55, 2008
                                                                                          26. Romanelli P et al: Radiosurgery for hypothalamic hamartomas. Neurosurg Focus. 24(5):E9, 2008
                                                                                          27. Schulze-Bonhage A et al: Outcome and predictors of interstitial radiosurgery in the treatment of gelastic epilepsy. Neurology. 71(4):277-82, 2008
                                                                                          28. Shahar E et al: Intractable gelastic seizures during infancy: ictal positron emission tomography (PET) demonstrating epileptiform activity within the hypothalamic hamartoma. J Child Neurol. 23(2):235-9, 2008
                                                                                          29. Shim KW et al: Treatment modality for intractable epilepsy in hypothalamic hamartomatous lesions. Neurosurgery. 62(4):847-56; discussion 856, 2008
                                                                                          30. Castori M et al: Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) association. Am J Med Genet A. 143(3):277-84, 2007
                                                                                          31. Castro LH et al: Epilepsy syndromes associated with hypothalamic hamartomas. Seizure. 16(1):50-8, 2007
                                                                                          32. Cheung CS et al: Gelastic seizures: not always hypothalamic hamartoma. Epileptic Disord. 9(4):453-8, 2007
                                                                                          33. Coons SW et al: The histopathology of hypothalamic hamartomas: study of 57 cases. J Neuropathol Exp Neurol. 66(2):131-41, 2007
                                                                                          34. Homma J et al: Stereotactic radiofrequency thermocoagulation for hypothalamic hamartoma with intractable gelastic seizures. Epilepsy Res. 76(1):15-21, 2007
                                                                                          35. Kerrigan JF et al: Hypothalamic hamartoma and infantile spasms. Epilepsia. 48(1):89-95, 2007
                                                                                          36. Régis J et al: Gamma knife surgery for epilepsy related to hypothalamic hamartomas. Semin Pediatr Neurol. 14(2):73-9, 2007
                                                                                          37. Rosenfeld JV et al: Hypothalamic hamartoma treatment: surgical resection with the transcallosal approach. Semin Pediatr Neurol. 14(2):88-98, 2007
                                                                                          38. Schulze-Bonhage A et al: Treatment options for gelastic epilepsy due to hypothalamic hamartoma: interstitial radiosurgery. Semin Pediatr Neurol. 14(2):80-7, 2007
                                                                                          39. Shahar E et al: Pediatric-onset gelastic seizures: clinical data and outcome. Pediatr Neurol. 37(1):29-34, 2007
                                                                                          40. Veendrick-Meekes MJ et al: Neuropsychiatric aspects of patients with hypothalamic hamartomas. Epilepsy Behav. 11(2):218-21, 2007
                                                                                          41. Vieira TC et al: Central precocious puberty associated with pituitary duplication and midline defects. J Pediatr Endocrinol Metab. 20(10):1141-4, 2007
                                                                                          42. Ali S et al: Psychiatric comorbidity in adult patients with hypothalamic hamartoma. Epilepsy Behav. 9(1):111-8, 2006
                                                                                          43. 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
                                                                                          44. Maixner W: Hypothalamic hamartomas--clinical, neuropathological and surgical aspects. Childs Nerv Syst. 22(8):867-73, 2006
                                                                                          45. Procaccini E et al: Surgical management of hypothalamic hamartomas with epilepsy: the stereoendoscopic approach. Neurosurgery. 59(4 Suppl 2):ONS336-44; discussion ONS344-6, 2006
                                                                                          46. 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
                                                                                          47. Boudreau EA et al: Hypothalamic hamartomas and seizures: distinct natural history of isolated and Pallister-Hall syndrome cases. Epilepsia. 46(1):42-7, 2005
                                                                                          48. Kizilkilic O et al: Hypothalamic hamartoma associated with a craniopharyngeal canal. AJNR Am J Neuroradiol. 26(1):65-7, 2005
                                                                                          49. Saxonhouse MA et al: Neonatal hypothalamic hamartoma: a differentiating nonlethal hamartoblastoma. J Neurosurg. 103(3 Suppl):277-81, 2005
                                                                                          50. Striano S et al: The clinical spectrum and natural history of gelastic epilepsy-hypothalamic hamartoma syndrome. Seizure. 14(4):232-9, 2005
                                                                                          51. Yamura M et al: Evaluation of small hypothalamic hamartomas with 3D constructive interference in steady state (CISS) sequence. Neuroradiology. 47(3):204-8, 2005
                                                                                          52. Booth TN et al: Pre- and postnatal MR imaging of hypothalamic hamartomas associated with arachnoid cysts. AJNR Am J Neuroradiol. 25(7):1283-5, 2004
                                                                                          53. 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
                                                                                          54. Voyadzis JM et al: Hypothalamic hamartoma secreting corticotropin-releasing hormone. Case report. J Neurosurg. 100(2 Suppl Pediatrics):212-6, 2004
                                                                                          55. Freeman JL: The anatomy and embryology of the hypothalamus in relation to hypothalamic hamartomas. Epileptic Disord. 5(4):177-86, 2003
                                                                                          56. Mullatti N et al: The clinical spectrum of epilepsy in children and adults with hypothalamic hamartoma. Epilepsia. 44(10):1310-9, 2003
                                                                                          57. Boyko OB et al: Hamartomas of the tuber cinereum: CT, MR, and pathologic findings. AJNR Am J Neuroradiol. 12(2):309-14, 1991