Background Hypothalamic hamartoma(HH)is a congenital non-progressive lesion of hypothalamus during fetal development.Mass-like lesions in different anatomical locations often develop a variously disabling course prese...Background Hypothalamic hamartoma(HH)is a congenital non-progressive lesion of hypothalamus during fetal development.Mass-like lesions in different anatomical locations often develop a variously disabling course presenting with cognitive decline,psychiatric symptoms,as well as multiple seizure types.As a rare disease,HH is relatively common in infants and children,but it is extremely rare in adults.Case presentation We reported a case of adult-onset hypothalamic hamartoma,and summarized and analyzed relevant reports and studies of HH worldwide.The patient had clinical manifestations characterized by multiple seizure forms.After stereotactic radiofrequency thermocoagulation and drug treatment,the condition was effectively controlled.The patient was followed up till October 2022,with no recurrence of seizures.Conclusions Epilepsy caused by HH can resemble that of temporal lobe seizures,as HH forms a complex epileptogenic network with other regions of the brain through anatomical and functional connections.Early treatment of HH can provide better control of the symptoms of epilepsy,and patients with longer disease courses may have more complications.展开更多
Epileptogenic hypothalamic hamartoma is characterized by intractable gelastic seizures.A systematic analysis of the overall brain metabolic pattern in patients with hypothalamic hamartoma(HH)could facilitate the under...Epileptogenic hypothalamic hamartoma is characterized by intractable gelastic seizures.A systematic analysis of the overall brain metabolic pattern in patients with hypothalamic hamartoma(HH)could facilitate the understanding of the epileptic brain network and the associated brain damage effects of HH.In this study,we retrospectively evaluated 27 patients with epileptogenic HH(8 female patients;age,2–33 years)by using ^(18)F-fluorodeoxyglucose-positron emission tomography.The correlations among tomography result,seizure type,sex,and structural magnetic resonance imaging were assessed.Whole metabolic patterns and voxel-based morphometry findings were assessed by group analysis with healthy controls.Assessment of the whole metabolic pattern in patients with HH revealed several regional metabolic reductions in the cerebrum and an overall metabolic reduction in the cerebellum.In addition,areas showing hypometabolism in the neocortex were more widely distributed ipsilaterally than contralaterally to the HH.Reductions in glucose metabolism and gray matter volume in the neocortex were predominant ipsilateral to the HH.In conclusion,the glucose hypometabolism pattern in patients with epileptogenic HH involved the neocortex,subcortical regions,and cerebellum.The characteristics of glucose hypometabolism differed across seizure type and sex.Reductions in glucose metabolism and structural changes may be based on different mechanisms,but both are likely to occur ipsilateral to the HH in the neocortex.We hypothesized that the dentato-rubro-thalamic tract and cerebro-ponto-cerebellar tract,which are responsible for intercommunication between the cerebral cortex,subcortical regions,and cerebellar regions,may be involved in a pathway related to seizure propagation,particularly gelastic seizures,in patients with HH.展开更多
Hypothalamic hamartoma (HH) is a rare developmental malformation often characterized by gelastic seizures.Recent advances in treating HH have led to dramatic improvements.However,clinical protocol of HH is poorly unde...Hypothalamic hamartoma (HH) is a rare developmental malformation often characterized by gelastic seizures.Recent advances in treating HH have led to dramatic improvements.However,clinical protocol of HH is poorly understood.Since 2002,department Pediatric Neurosurgery of Xinhua Hospital has maintained a multidisciplinary clinical program to evaluate and treat children with HH.This program has provided the opportunity to investigate the management of HH.In this review,we summarize the clinical progress and propose a clear management principle for different HH patients.展开更多
Refractory gelastic seizure is one of the most common clinical manifestations in patients with hypothalamic hamartoma （HH） and HH is usually regarded as the epileptogenic focus. A young female patient with a small H...Refractory gelastic seizure is one of the most common clinical manifestations in patients with hypothalamic hamartoma （HH） and HH is usually regarded as the epileptogenic focus. A young female patient with a small HH and refractory seizures is reported here. However, both the seizure semiology and results of electroencephalogram monitoring indicated the right temporal region was the epileptogenic focus. Thus a standard right anterior temporal Iobectomy was performed while the hamartoma preserved. There was a marked improvement in both seizure frequency and quality of life during a 13-month follow-up. The outcome supported the concept that independent epileptogenic focus outside of the hypothalamus might occur in patients with HH.展开更多
基金supported by the foundation of Medical Science and Technology of Guangdong(A2022402).
文摘Background Hypothalamic hamartoma(HH)is a congenital non-progressive lesion of hypothalamus during fetal development.Mass-like lesions in different anatomical locations often develop a variously disabling course presenting with cognitive decline,psychiatric symptoms,as well as multiple seizure types.As a rare disease,HH is relatively common in infants and children,but it is extremely rare in adults.Case presentation We reported a case of adult-onset hypothalamic hamartoma,and summarized and analyzed relevant reports and studies of HH worldwide.The patient had clinical manifestations characterized by multiple seizure forms.After stereotactic radiofrequency thermocoagulation and drug treatment,the condition was effectively controlled.The patient was followed up till October 2022,with no recurrence of seizures.Conclusions Epilepsy caused by HH can resemble that of temporal lobe seizures,as HH forms a complex epileptogenic network with other regions of the brain through anatomical and functional connections.Early treatment of HH can provide better control of the symptoms of epilepsy,and patients with longer disease courses may have more complications.
基金supported by the National Natural Science Foundation of China(Nos.81801288,81871009,and 82030037)。
文摘Epileptogenic hypothalamic hamartoma is characterized by intractable gelastic seizures.A systematic analysis of the overall brain metabolic pattern in patients with hypothalamic hamartoma(HH)could facilitate the understanding of the epileptic brain network and the associated brain damage effects of HH.In this study,we retrospectively evaluated 27 patients with epileptogenic HH(8 female patients;age,2–33 years)by using ^(18)F-fluorodeoxyglucose-positron emission tomography.The correlations among tomography result,seizure type,sex,and structural magnetic resonance imaging were assessed.Whole metabolic patterns and voxel-based morphometry findings were assessed by group analysis with healthy controls.Assessment of the whole metabolic pattern in patients with HH revealed several regional metabolic reductions in the cerebrum and an overall metabolic reduction in the cerebellum.In addition,areas showing hypometabolism in the neocortex were more widely distributed ipsilaterally than contralaterally to the HH.Reductions in glucose metabolism and gray matter volume in the neocortex were predominant ipsilateral to the HH.In conclusion,the glucose hypometabolism pattern in patients with epileptogenic HH involved the neocortex,subcortical regions,and cerebellum.The characteristics of glucose hypometabolism differed across seizure type and sex.Reductions in glucose metabolism and structural changes may be based on different mechanisms,but both are likely to occur ipsilateral to the HH in the neocortex.We hypothesized that the dentato-rubro-thalamic tract and cerebro-ponto-cerebellar tract,which are responsible for intercommunication between the cerebral cortex,subcortical regions,and cerebellar regions,may be involved in a pathway related to seizure propagation,particularly gelastic seizures,in patients with HH.
基金grants from the National Key Basic Research Program,，the National Natural Science Foundation of China，Clinical Trials of Xinhua hospital
文摘Hypothalamic hamartoma (HH) is a rare developmental malformation often characterized by gelastic seizures.Recent advances in treating HH have led to dramatic improvements.However,clinical protocol of HH is poorly understood.Since 2002,department Pediatric Neurosurgery of Xinhua Hospital has maintained a multidisciplinary clinical program to evaluate and treat children with HH.This program has provided the opportunity to investigate the management of HH.In this review,we summarize the clinical progress and propose a clear management principle for different HH patients.
文摘Refractory gelastic seizure is one of the most common clinical manifestations in patients with hypothalamic hamartoma （HH） and HH is usually regarded as the epileptogenic focus. A young female patient with a small HH and refractory seizures is reported here. However, both the seizure semiology and results of electroencephalogram monitoring indicated the right temporal region was the epileptogenic focus. Thus a standard right anterior temporal Iobectomy was performed while the hamartoma preserved. There was a marked improvement in both seizure frequency and quality of life during a 13-month follow-up. The outcome supported the concept that independent epileptogenic focus outside of the hypothalamus might occur in patients with HH.
