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Hypothalamic hamartomas with gelastic seizures

MedGen UID:
1642420
•Concept ID:
C4707883
•
Disease or Syndrome
Synonyms: Hypothalamic hamartoma with gelastic seizure; hypothalamic hamartomas with gelastic seizures
SNOMED CT: Hypothalamic hamartoma with gelastic seizure (766932005)
 
Monarch Initiative: MONDO:0019484
Orphanet: ORPHA86906

Definition

A rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (ictal laughter) or dacrystic (ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypothalamic hamartomas with gelastic seizures

Professional guidelines

PubMed

Hypothalamic Hamartomas: A comprehensive review of literature - Part 2: Medical and surgical management update.
Alomari SO, El Houshiemy MN, Bsat S, Moussalem CK, Allouh M, Omeis IA
Clin Neurol Neurosurg 2020 Aug;195:106074. Epub 2020 Jul 7 doi: 10.1016/j.clineuro.2020.106074. PMID: 32663735
Management of Epilepsy Due to Hypothalamic Hamartomas.
Khawaja AM, Pati S, Ng YT
Pediatr Neurol 2017 Oct;75:29-42. Epub 2017 Jul 5 doi: 10.1016/j.pediatrneurol.2017.07.001. PMID: 28886982
Diagnosis and management of epilepsy associated with hypothalamic hamartoma: an evidence-based systematic review.
Pati S, Sollman M, Fife TD, Ng YT
J Child Neurol 2013 Jul;28(7):909-16. Epub 2013 May 13 doi: 10.1177/0883073813488673. PMID: 23670254

Recent clinical studies

Etiology

Ictal semiology of gelastic seizures.
Mirandola L, Cantalupo G, d'Orsi G, Meletti S, Vaudano AE, Di Vito L, Vignoli A, Tassi L, Pelliccia V
Epilepsy Behav 2023 Mar;140:109025. Epub 2023 Feb 11 doi: 10.1016/j.yebeh.2022.109025. PMID: 36780776
A clinical evaluation of gelastic and dacrystic seizures: a multicenter study.
Demir AB, Öz BY, Yıldız MO, Türk BG, Tanrıverdi T, Bekar A, Yeni N, Bora İ
Arq Neuropsiquiatr 2022 Dec;80(12):1204-1212. Epub 2022 Dec 29 doi: 10.1055/s-0042-1758755. PMID: 36580957Free PMC Article
Gelastic seizures not associated with hypothalamic hamartoma: A long-term follow-up study.
Iapadre G, Zagaroli L, Cimini N, Belcastro V, Concolino D, Coppola G, Del Giudice E, Farello G, Iezzi ML, Margari L, Matricardi S, Orsini A, Parisi P, Piccioli M, Di Donato G, Savasta S, Siliquini S, Spalice A, Striano S, Striano P, Verrotti A
Epilepsy Behav 2020 Feb;103(Pt A):106578. Epub 2019 Nov 1 doi: 10.1016/j.yebeh.2019.106578. PMID: 31680025
Laser Interstitial Thermal Therapy for Epilepsy.
Prince E, Hakimian S, Ko AL, Ojemann JG, Kim MS, Miller JW
Curr Neurol Neurosci Rep 2017 Sep;17(9):63. doi: 10.1007/s11910-017-0772-8. PMID: 28699085
Surgical management of hypothalamic hamartomas in patients with gelastic epilepsy.
Addas B, Sherman EM, Hader WJ
Neurosurg Focus 2008 Sep;25(3):E8. doi: 10.3171/FOC/2008/25/9/E8. PMID: 18759632

Diagnosis

Ictal semiology of gelastic seizures.
Mirandola L, Cantalupo G, d'Orsi G, Meletti S, Vaudano AE, Di Vito L, Vignoli A, Tassi L, Pelliccia V
Epilepsy Behav 2023 Mar;140:109025. Epub 2023 Feb 11 doi: 10.1016/j.yebeh.2022.109025. PMID: 36780776
Gelastic seizures not associated with hypothalamic hamartoma: A long-term follow-up study.
Iapadre G, Zagaroli L, Cimini N, Belcastro V, Concolino D, Coppola G, Del Giudice E, Farello G, Iezzi ML, Margari L, Matricardi S, Orsini A, Parisi P, Piccioli M, Di Donato G, Savasta S, Siliquini S, Spalice A, Striano S, Striano P, Verrotti A
Epilepsy Behav 2020 Feb;103(Pt A):106578. Epub 2019 Nov 1 doi: 10.1016/j.yebeh.2019.106578. PMID: 31680025
Hypothalamic hamartoma: Epileptogenesis beyond the lesion?
Scholly J, Staack AM, Kahane P, Scavarda D, Régis J, Hirsch E, Bartolomei F
Epilepsia 2017 Jun;58 Suppl 2:32-40. doi: 10.1111/epi.13755. PMID: 28591482
Diagnosis and management of epilepsy associated with hypothalamic hamartoma: an evidence-based systematic review.
Pati S, Sollman M, Fife TD, Ng YT
J Child Neurol 2013 Jul;28(7):909-16. Epub 2013 May 13 doi: 10.1177/0883073813488673. PMID: 23670254
Radiosurgery for hypothalamic hamartomas.
Romanelli P, Muacevic A, Striano S
Neurosurg Focus 2008;24(5):E9. doi: 10.3171/FOC/2008/24/5/E9. PMID: 18447748

Therapy

Ictal semiology of gelastic seizures.
Mirandola L, Cantalupo G, d'Orsi G, Meletti S, Vaudano AE, Di Vito L, Vignoli A, Tassi L, Pelliccia V
Epilepsy Behav 2023 Mar;140:109025. Epub 2023 Feb 11 doi: 10.1016/j.yebeh.2022.109025. PMID: 36780776
Seizure outcome and prognostic factors for surgical management of hypothalamic hamartomas in children.
Ferrand-Sorbets S, Fohlen M, Delalande O, Zuber K, Bulteau C, Levy M, Chamard P, Taussig D, Dorison N, Bekaert O, Tisdall M, Chipaux M, Dorfmüller G
Seizure 2020 Feb;75:28-33. Epub 2019 Nov 29 doi: 10.1016/j.seizure.2019.11.013. PMID: 31865135
Laser interstitial thermotherapy (LiTT) in pediatric epilepsy surgery.
Hoppe C, Helmstaedter C
Seizure 2020 Apr;77:69-75. Epub 2018 Dec 18 doi: 10.1016/j.seizure.2018.12.010. PMID: 30591281
Hypothalamic hamartomas in adulthood: Clinical spectrum and treatment outcome-A unicenter experience.
Conde Blanco E, Anciones Martín C, Manzanares I, Gil López F, Roldán P, Donaire A, Rumiá J, Carreño M
Brain Behav 2019 Nov;9(11):e01412. Epub 2019 Oct 2 doi: 10.1002/brb3.1412. PMID: 31578831Free PMC Article
Laser interstitial thermal therapy: A first line treatment for seizures due to hypothalamic hamartoma?
Du VX, Gandhi SV, Rekate HL, Mehta AD
Epilepsia 2017 Jun;58 Suppl 2:77-84. doi: 10.1111/epi.13751. PMID: 28591480

Prognosis

Gelastic seizures not associated with hypothalamic hamartoma: A long-term follow-up study.
Iapadre G, Zagaroli L, Cimini N, Belcastro V, Concolino D, Coppola G, Del Giudice E, Farello G, Iezzi ML, Margari L, Matricardi S, Orsini A, Parisi P, Piccioli M, Di Donato G, Savasta S, Siliquini S, Spalice A, Striano S, Striano P, Verrotti A
Epilepsy Behav 2020 Feb;103(Pt A):106578. Epub 2019 Nov 1 doi: 10.1016/j.yebeh.2019.106578. PMID: 31680025
Cognition in epilepsy patients with hypothalamic hamartomas.
Wagner K, Wethe JV, Schulze-Bonhage A, Trippel M, Rekate H, Prigatano GP, Kerrigan JF
Epilepsia 2017 Jun;58 Suppl 2:85-93. doi: 10.1111/epi.13759. PMID: 28591483
Clinical features and evolution of the gelastic seizures-hypothalamic hamartoma syndrome.
Striano S, Striano P
Epilepsia 2017 Jun;58 Suppl 2:12-15. doi: 10.1111/epi.13753. PMID: 28591476
Hypothalamic hamartomas. Part 1. Clinical, neuroimaging, and neurophysiological characteristics.
Mittal S, Mittal M, Montes JL, Farmer JP, Andermann F
Neurosurg Focus 2013 Jun;34(6):E6. doi: 10.3171/2013.3.FOCUS1355. PMID: 23724840
Hypothalamic hamartomas--clinical, neuropathological and surgical aspects.
Maixner W
Childs Nerv Syst 2006 Aug;22(8):867-73. Epub 2006 Jun 9 doi: 10.1007/s00381-006-0129-0. PMID: 16763856

Clinical prediction guides

Ictal semiology of gelastic seizures.
Mirandola L, Cantalupo G, d'Orsi G, Meletti S, Vaudano AE, Di Vito L, Vignoli A, Tassi L, Pelliccia V
Epilepsy Behav 2023 Mar;140:109025. Epub 2023 Feb 11 doi: 10.1016/j.yebeh.2022.109025. PMID: 36780776
A clinical evaluation of gelastic and dacrystic seizures: a multicenter study.
Demir AB, Öz BY, Yıldız MO, Türk BG, Tanrıverdi T, Bekar A, Yeni N, Bora İ
Arq Neuropsiquiatr 2022 Dec;80(12):1204-1212. Epub 2022 Dec 29 doi: 10.1055/s-0042-1758755. PMID: 36580957Free PMC Article
Hypothalamic hamartoma with epilepsy: Review of endocrine comorbidity.
Harrison VS, Oatman O, Kerrigan JF
Epilepsia 2017 Jun;58 Suppl 2(Suppl 2):50-59. doi: 10.1111/epi.13756. PMID: 28591479Free PMC Article
The gelastic seizures-hypothalamic hamartoma syndrome: facts, hypotheses, and perspectives.
Striano S, Santulli L, Ianniciello M, Ferretti M, Romanelli P, Striano P
Epilepsy Behav 2012 May;24(1):7-13. Epub 2012 Apr 11 doi: 10.1016/j.yebeh.2012.02.013. PMID: 22503469
Hypothalamic hamartomas--clinical, neuropathological and surgical aspects.
Maixner W
Childs Nerv Syst 2006 Aug;22(8):867-73. Epub 2006 Jun 9 doi: 10.1007/s00381-006-0129-0. PMID: 16763856

Recent systematic reviews

Surgical outcomes between temporal, extratemporal epilepsies and hypothalamic hamartoma: systematic review and meta-analysis of MRI-guided laser interstitial thermal therapy for drug-resistant epilepsy.
Barot N, Batra K, Zhang J, Klem ML, Castellano J, Gonzalez-Martinez J, Bagic A
J Neurol Neurosurg Psychiatry 2022 Feb;93(2):133-143. Epub 2021 Jul 28 doi: 10.1136/jnnp-2021-326185. PMID: 34321344
A systematic review of stereotactic radiofrequency ablation for hypothalamic hamartomas.
Kondajji AM, Evans A, Lum M, Kulinich D, Unterberger A, Ding K, Duong C, Patel K, Yang I
J Neurol Sci 2021 May 15;424:117428. Epub 2021 Mar 27 doi: 10.1016/j.jns.2021.117428. PMID: 33813160
Psychiatric comorbidity with hypothalamic hamartoma: Systematic review for predictive clinical features.
Killeen Z, Bunch R, Kerrigan JF
Epilepsy Behav 2017 Aug;73:126-130. Epub 2017 Jul 18 doi: 10.1016/j.yebeh.2017.05.019. PMID: 28636978
Diagnosis and management of epilepsy associated with hypothalamic hamartoma: an evidence-based systematic review.
Pati S, Sollman M, Fife TD, Ng YT
J Child Neurol 2013 Jul;28(7):909-16. Epub 2013 May 13 doi: 10.1177/0883073813488673. PMID: 23670254

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