Hypothalamic hamartomas in adulthood: Clinical spectrum and treatment outcome—A unicenter experience
Abstract Introduction Clinical manifestations of the hypothalamic hamartoma‐epilepsy syndrome (HH‐ES) in adulthood are variable. Efficacy of therapeutic options and outcome are diverse. Methods Retrospective study of adult patients diagnosed with a HH in magnetic resonance imaging and epilepsy who a...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2019-11-01
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| Series: | Brain and Behavior |
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| Online Access: | https://doi.org/10.1002/brb3.1412 |
| _version_ | 1818554561939374080 |
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| author | Estefanía Conde Blanco Carla Anciones Martín Isabel Manzanares Francisco Gil López Pedro Roldán Antonio Donaire Jordi Rumiá Mar Carreño |
| author_facet | Estefanía Conde Blanco Carla Anciones Martín Isabel Manzanares Francisco Gil López Pedro Roldán Antonio Donaire Jordi Rumiá Mar Carreño |
| author_sort | Estefanía Conde Blanco |
| collection | DOAJ |
| description | Abstract Introduction Clinical manifestations of the hypothalamic hamartoma‐epilepsy syndrome (HH‐ES) in adulthood are variable. Efficacy of therapeutic options and outcome are diverse. Methods Retrospective study of adult patients diagnosed with a HH in magnetic resonance imaging and epilepsy who attended our tertiary Epilepsy Unit between 2003 and 2018. We report the clinical and electroencephalographic features of a series of adult patients with HH and related epilepsy seen in our center together with the treatments and seizure outcome. Results We describe a series of eight patients. Five males (62.5%), median age at evaluation was 28.5 years (IQR: 15.5). Clinical manifestations included focal with preserved and impaired awareness emotional seizures (gelastic seizures [GS]) in six patients (75%), focal tonic, atonic with impaired awareness and focal to bilateral tonic–clonic seizures. Mild GS were the only symptom in one patient. Three patients (37.5%) had endocrinological disturbances such as obesity and hypothyroidism. Fifty percent of the patients showed psychiatric comorbidity such as anxiety disorder and aggressiveness, and two patients had psychomotor delay. Seven patients (87.7%) had drug‐resistant seizures and three of them were treated with radiosurgery. Out of the treated group, only one (33.3%) became seizure‐free 2 years after surgery but developed psychiatric problems. The other two patients had an Engel IV outcome and received a vagal nerve stimulation (VNS) implant. VNS did not lead to changes either in intensity nor in seizure frequency. Conclusions Hypothalamic hamartoma‐epilepsy syndrome clinical manifestations in adult patients are as variable as at pediatric age. Outcome of therapeutic options such as radiosurgery or VNS may be poorer at this stage. |
| first_indexed | 2024-12-12T09:41:27Z |
| format | Article |
| id | doaj.art-69d3e0bdd345421094d4d662ab0c2d06 |
| institution | Directory Open Access Journal |
| issn | 2162-3279 |
| language | English |
| last_indexed | 2024-12-12T09:41:27Z |
| publishDate | 2019-11-01 |
| publisher | Wiley |
| record_format | Article |
| series | Brain and Behavior |
| spelling | doaj.art-69d3e0bdd345421094d4d662ab0c2d062022-12-22T00:28:33ZengWileyBrain and Behavior2162-32792019-11-01911n/an/a10.1002/brb3.1412Hypothalamic hamartomas in adulthood: Clinical spectrum and treatment outcome—A unicenter experienceEstefanía Conde Blanco0Carla Anciones Martín1Isabel Manzanares2Francisco Gil López3Pedro Roldán4Antonio Donaire5Jordi Rumiá6Mar Carreño7Epilepsy Unit Department of Neurology Hospital Clinic Barcelona SpainDepartment of Neurology Hospital Ruber Internacional Madrid SpainEpilepsy Unit Department of Neurology Hospital Clinic Barcelona SpainEpilepsy Unit Department of Neurology Hospital Clinic Barcelona SpainEpilepsy Unit Department of Neurology Hospital Clinic Barcelona SpainEpilepsy Unit Department of Neurology Hospital Clinic Barcelona SpainEpilepsy Unit Department of Neurology Hospital Clinic Barcelona SpainEpilepsy Unit Department of Neurology Hospital Clinic Barcelona SpainAbstract Introduction Clinical manifestations of the hypothalamic hamartoma‐epilepsy syndrome (HH‐ES) in adulthood are variable. Efficacy of therapeutic options and outcome are diverse. Methods Retrospective study of adult patients diagnosed with a HH in magnetic resonance imaging and epilepsy who attended our tertiary Epilepsy Unit between 2003 and 2018. We report the clinical and electroencephalographic features of a series of adult patients with HH and related epilepsy seen in our center together with the treatments and seizure outcome. Results We describe a series of eight patients. Five males (62.5%), median age at evaluation was 28.5 years (IQR: 15.5). Clinical manifestations included focal with preserved and impaired awareness emotional seizures (gelastic seizures [GS]) in six patients (75%), focal tonic, atonic with impaired awareness and focal to bilateral tonic–clonic seizures. Mild GS were the only symptom in one patient. Three patients (37.5%) had endocrinological disturbances such as obesity and hypothyroidism. Fifty percent of the patients showed psychiatric comorbidity such as anxiety disorder and aggressiveness, and two patients had psychomotor delay. Seven patients (87.7%) had drug‐resistant seizures and three of them were treated with radiosurgery. Out of the treated group, only one (33.3%) became seizure‐free 2 years after surgery but developed psychiatric problems. The other two patients had an Engel IV outcome and received a vagal nerve stimulation (VNS) implant. VNS did not lead to changes either in intensity nor in seizure frequency. Conclusions Hypothalamic hamartoma‐epilepsy syndrome clinical manifestations in adult patients are as variable as at pediatric age. Outcome of therapeutic options such as radiosurgery or VNS may be poorer at this stage.https://doi.org/10.1002/brb3.1412adultepilepsyhypothalamic hamartomaradiosurgeryseizurestreatment |
| spellingShingle | Estefanía Conde Blanco Carla Anciones Martín Isabel Manzanares Francisco Gil López Pedro Roldán Antonio Donaire Jordi Rumiá Mar Carreño Hypothalamic hamartomas in adulthood: Clinical spectrum and treatment outcome—A unicenter experience Brain and Behavior adult epilepsy hypothalamic hamartoma radiosurgery seizures treatment |
| title | Hypothalamic hamartomas in adulthood: Clinical spectrum and treatment outcome—A unicenter experience |
| title_full | Hypothalamic hamartomas in adulthood: Clinical spectrum and treatment outcome—A unicenter experience |
| title_fullStr | Hypothalamic hamartomas in adulthood: Clinical spectrum and treatment outcome—A unicenter experience |
| title_full_unstemmed | Hypothalamic hamartomas in adulthood: Clinical spectrum and treatment outcome—A unicenter experience |
| title_short | Hypothalamic hamartomas in adulthood: Clinical spectrum and treatment outcome—A unicenter experience |
| title_sort | hypothalamic hamartomas in adulthood clinical spectrum and treatment outcome a unicenter experience |
| topic | adult epilepsy hypothalamic hamartoma radiosurgery seizures treatment |
| url | https://doi.org/10.1002/brb3.1412 |
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