Hypothalamic hamartomas in adulthood: Clinical spectrum and treatment outcome—A unicenter experience

Abstract

IntroductionClinical manifestations of the hypothalamic hamartoma‐epilepsy syndrome (HH‐ES) in adulthood are variable. Efficacy of therapeutic options and outcome are diverse.MethodsRetrospective 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.ResultsWe 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.ConclusionsHypothalamic 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.

Epilepsy in hypothalamic hamartomas: semiology spectrum and predictor analyses of 78 patients

“…Both our results and those of prior studies have shown that small HH lesions generally exhibit reduced epileptic severity and more gradual disease evolution. [19][20][21] As such, epileptiform activity within the HH has a higher chance of contributing to seizure onset and disease progression when a sessile attachment to the hypothalamus enables it to propagate to the diencephalon and various other cortical structures. 7,22 Over the course of epilepsy evolution, many other seizure types generally develop in patients following initial GS presentation after a delay, 2,6 with these seizures being linked to ictal discharges affecting a range of neocortical areas but sparing the HH.…”

“…Both our results and those of prior studies have shown that small HH lesions generally exhibit reduced epileptic severity and more gradual disease evolution. 19 , 20 , 21 As such, epileptiform activity within the HH has a higher chance of contributing to seizure onset and disease progression when a sessile attachment to the hypothalamus enables it to propagate to the diencephalon and various other cortical structures. 7 , 22 …”

Gelastic Seizures and Hypothalamic Hamartoma

“…HH occurs concurrently with precocious puberty in 63% of patients, epileptic seizures in 61%, and both in 25%. 4 5 …”