立体定向射频毁损治疗表现为痴笑性癫癎的下丘脑错构瘤

目的总结采用立体定向热凝毁损手术方法治疗引起痴笑性癫癎的下丘脑微小错构瘤的经验。方法报告1例病人,男性,22岁,表现为痴笑性癫癎21年,继发复杂部分性发作7年,发作3～4次/d,药物治疗无效。MRI诊断为第三脑室内错构瘤,大小6mm×6mm×7mm。局麻下采用有框架立体定向技术,在病变内插入深部电极,记录并刺激后行射频毁损,制作4个靶点。结果深部电极在病灶内记录到棘波和慢波,刺激未诱发出痴笑性癫癎。术中行可逆毁损（45℃）和毁损（70℃）时,病人出现一过性中枢性高热、高血压和心动过速。术后随访6个月,痴笑性癫癎和复杂部分性发作完全消失,无手术并发症发生。结论下丘脑受到直接热刺激时可产生中枢性高热。对于较小的下丘脑错构瘤,立体定向热凝毁损术是一种安全有效的手术方法。     

Gelastic seizure with tectal tumor, lobar holoprosencephaly, and subependymal nodules: clinical report

Gelastic seizures are characterized by inappropriate, stereotyped laughter and are often first recognized when other epileptic manifestations occur. They are frequently associated with hypothalamic hamartomas. Central nervous system developmental abnormalities are rarely reported with gelastic seizures. There is only one case report of gelastic seizure caused by holoprosencephaly. We report a 2-year-old girl with multiple brain structural abnormalities including tectal tumor (possibly hamartoma), multiple subependymal nodules, and holoprosencephaly. She developed seizures during the newborn period and presented with gelastic seizure and simple partial seizure at 3 months of age.     

Intrinsic epileptogenesis of hypothalamic hamartomas in gelastic epilepsy

Hypothalamic hamartomas and gelastic seizures are often associated with cognitive deterioration, behavioral problems, and poor response to anticonvulsant treatment or cortical resections. The origin and pathophysiology of the epileptic attacks are obscure. We investigated 3 patients with this syndrome and frequent gelastic seizures. Ictal single-photon emission computed tomography performed during typical gelastic seizures demonstrated hyperperfusion in the hamartomas, hypothalamic region, and thalamus without cortical or cerebellar hyperperfusion. Electroencephalographic recordings with depth electrodes implanted in the hamartoma demonstrated focal seizure origin from the hamartoma in 1 patient. Electrical stimulation studies reproduced the typical gelastic events. Stereotactic radiofrequency lesioning of the hamartoma resulted in seizure resulted in seizure remission without complications 20 months after surgery. The functional imaging findings, electrophysiological data, and results of radiofrequency surgery indicate that epileptic seizures in this syndrome originate and propagate from the hypothalamic hamartoma and adjacent structures.     

Gelastic epilepsy without hypothalamic hamartoma: Three additional cases

We describe three children with gelastic seizures without hypothalamic hamartoma whose seizures were characterized by typical laughing attacks associated or not with other seizure types. Ictal/interictal EEG and magnetic resonance imaging were performed. All three subjects showed a good response to carbamazepine therapy with complete seizure control in addition to a benign clinical and cognitive outcome. These three cases confirm that gelastic epilepsy without hypothalamic hamartoma, both in cryptogenic or symptomatic patients (one child showed a dysplastic right parietotemporal lesion), usually has a more benign natural history, and carbamazepine seems to be the most efficacious therapy to obtain both immediate and long-term seizure control. These findings need to be confirmed in a larger sample of children affected by gelastic epilepsy without hypothalamic hamartoma.     

White matter density is increased in patients with hypothalamic hamartoma and multiple seizure types

Many patients with hypothalamic hamartomas present in infancy with gelastic seizures of subcortical origin, but later develop additional seizure types, including complex partial, tonic, and generalized tonic-clonic seizures. The basic cellular mechanisms responsible for this evolution in seizure types are unknown. Using voxel-based morphometry of T1 weighted MRI scans we compared eight patients with only gelastic seizures with 16 age-matched patients with multiple seizure types and found significantly greater white matter density in the temporal lobes and cerebellum in those with multiple seizure types. This suggests that increased white matter density, perhaps resulting from maturational changes and resulting in increased brain connectivity, is associated with a higher likelihood of cortical involvement in epilepsy resulting from hypothalamic hamartoma.     

立体定向射频毁损治疗下丘脑错构瘤伴癫痫病例报导并文献复习

目的 总结立体定向射频毁损手术方法,治疗下丘脑错构瘤伴癫痫的临床疗效,并分析毁损靶点位置的选择.方法 回顾性分析1例下丘脑错构瘤伴癫痫患者临床资料,并复习文献.患者女性,9岁,痴笑癫痫8年,继发复杂部分性发作3年,MRI提示下丘脑错构瘤.局麻下行立体定向射频毁损手术.结果 术后一周有尿量增多,无其它手术并发症.术后痴笑发作消失,复杂部分性发作减少.结论 立体定向射频毁损手术对于下丘脑错构瘤伴癫痫是一种安全有效的治疗方法,毁损靶点定位应包括错构瘤中心及错构瘤边缘乳头体丘脑束部位.     

Surgical treatment of extra‐hypothalamic epilepsies presenting with gelastic seizures

We provide an overview of the surgical outcome of extra‐hypothalamic epilepsies with gelastic seizures based on an original case report and a summary of the literature. Twenty‐two articles providing information on the outcome of resective surgery in 39 patients with extra‐hypothalamic gelastic seizures from the temporal (19 patients) or frontal lobe (20 patients) were selected. We add another case of temporal lobe gelastic seizures to the literature with a video demonstrating the mirthful component of this patient's laughing seizures. Drug‐refractory cases of gelastic seizures from the temporal or frontal lobes are amenable to surgical treatment following thorough investigation with imaging, as well as scalp and intracranial EEG.     

A case of hypothalamic hamartoma with refractory seizures: successful treatment with gamma knife surgery

Hypothalamic hamartomas are associated with precocious puberty and gelastic epilepsy. The seizures are often refractory to antiepileptic medications. The treatment of hamartoma is not well established. We report a 3-year-6-month-old boy was admitted because of intractable seizures occurring several times a day. The findings on magnetic resonance imaging and his characteristic seizure led to the diagnosis of hypothalamic hamartoma. The seizures were resistant to multiple antiepileptic drugs, and persisted for about 3 years, during which his cognition deteriorated. Focal radiosurgery by a gamma knife of the hamartoma successfully controlled the seizures with no neurological complications, and his mental function improved.     

Gelastic seizures associated with hypothalamic hamartomas. An update in the clinical presentation,diagnosis and treatment

Gelastic seizures are epileptic events characterized by bouts of laughter. Laughter-like vocalization is usually combined with facial contraction in the form of a smile. Autonomic features such as flushing, tachycardia, and altered respiration are widely recognized. Conscious state may not be impaired, although this is often difficult to asses particularly in young children. Gelastic seizures have been associated classically to hypothalamic hamartomas, although different extrahypothalamic localizations have been described. Hypothalamic hamartomas are rare congenital lesions presenting with the classic triad of gelastic epilepsy, precocious puberty and developmental delay. The clinical course of patients with gelastic seizures associated with hypothalamic hamartomas is progressive, commencing with gelastic seizures in infancy, deteriorating into more complex seizure disorder resulting in intractable epilepsy. Electrophysiological, radiological, and pathophysiological studies have confirmed the intrinsic epileptogenicity of the hypothalamic hamartoma. Currently the most effective surgical approach is the trancallosal anterior interforniceal approach, however newer approaches including the endoscopic and other treatment such as radiosurgery and gamma knife have been used with success. This review focuses on the syndrome of gelastic seizures associated with hypothalamic hamartomas, but it also reviews other concepts such as status gelasticus and some aspects of gelastic seizures in other locations.     

Intractable gelastic seizures during infancy: ictal positron emission tomography (PET) demonstrating epileptiform activity within the hypothalamic hamartoma

Gelastic seizures comprise a very rare form of epilepsy. They present with recurrent bursts of laughter voices without mirth and are most commonly associated with the evolution of a hypothalamic hamartoma. The purpose of this article is to describe the second reported ictal fluorodeoxyglucose-positron emission tomography study in a unique case of an infant with intractable gelastic seizures since the neonatal period associated with a hypothalamic hamartoma. The patient presented at 4 months old with recurrent, almost persistent, gelastic seizures consisting of laughter bouts without mirth. The seizures were noticeable at the first week of life and increased in frequency to last up to 12 hours, namely status gelasticus. These gelastic fits were accompanied with focal motor seizures, including unilateral right-eye blinking and mouth twitching. Developmental mile-stones were intact for age. Magnetic resonance imaging of the cortex demonstrated a large hypothalamic hamartoma within the third ventricle, hampering cerebrovascular fluid drainage of the lateral ventricles. An electroencephalography was nondiagnostic. Ictal fluorodeoxyglucose-positron emission tomography demonstrated a large circumscribed hypermetabolic region within the location of the hypothalamic hamartoma, representing localized intense epileptiform activity. The infant became instantly free of all seizure types given minute doses of oral benzodiazepine (clonazepam) and remains completely controlled after 12 months. Her overall development remains intact. This ictal fluorodeoxyglucose-positron emission tomography is the second reported study verifying that the main source of the epileptic activity inducing gelastic seizures originates from the hypothalamic hamartoma itself; therefore, a complementary fluorodeoxyglucose-positron emission tomography study should be considered in any patient presenting with intractable gelastic seizures, especially in those associated with hypothalamic hamartoma, in order to localize the region of epileptiform activity amenable to surgical resection if intensive drug therapy fails.     

Rare combination of gelastic epilepsy, agenesis of the corpus callosum, and hamartoma

Gelastic seizures are rare and are associated with different conditions, but mainly with hypothalamic hamartoma. We report on a boy who presented with mental retardation, aggressive behavior, and generalized tonic-clonic and gelastic seizures. Cranial imaging studies revealed a very rare combination of hypothalamic hamartoma and agenesis of the corpus callosum, which was only reported once previously. His seizure activities demonstrated a modest response to anticonvulsants.     

An unusual case of epilepsy exhibiting gelastic seizure, simple visual hallucination, and transient swelling of the left parieto-occipital region]

We report a 74-year-old man with gelastic seizure, simple visual hallucination, and adversive seizure. The patient described his visual hallucinations as "rotating light like a firefly" and "mimicking a stream". Brain CT scan showed a transient swelling as well as low density of a left parieto-occipital region. Electroencephalographic study revealed spikes and fast waves beginning at left occipital region. Although temporal lobe and hypothalamic lesions (especially hypothalamic hamartomas) are well known as origins of gelastic seizures, we could not find any report that described a series of occurrence of gelastic seizure and simple visual hallucination. Usually, simple visual hallucination is thought to occur in occipital lesion. In our case, it is possible that gelastic seizure and simple visual hallucination are related to the epileptic discharge from occipital lesion directly or indirectly. The reversible brain swelling with low density seen in the present case might be caused by cytotoxic edema due to status epilepticus.     

儿童下丘脑错构瘤导致癫痫的手术治疗

目的 探讨儿童下丘脑错构瘤导致癫痫的手术治疗。方法 报告儿童下丘脑错构瘤11例，男6例，女5例，年龄为2-15岁，发病年龄为2个月至14岁。首发症状为痴笑样癫痫者10例。为癫痫大发作者1例，伴发性早熟6例，伴发跌倒发作3例，伴发癫痫大发作6例。手术；翼点入路10例，终板入路1例，术中错构瘤深部电极检测4例。结果 全切错构瘤2例，大部切除8例，部分切除1例。术中错构瘤深部电极显示棘波1例。随诊19至90个月，痊愈2例，有效9例，术后一过性动眼神经麻痹3例。结论 手术切除错构瘤可有效治疗儿童下丘脑错构瘤导致的癫痫。     

Pediatric-onset gelastic seizures: clinical data and outcome

Gelastic seizures are an extremely rare form of epilepsy defined as automatic bouts of laughter without mirth commonly associated with a hypothalamic hamartoma. The objective was to survey all Israeli children found to develop recurrent gelastic seizures and report presenting symptoms, electroencephalographic and radiologic data, and response to either antiepileptic drugs or surgery. Ten children who developed gelastic seizures at the age of 1 week to 6.5 years (mean, 25 months) at a frequency from 3 bouts per week to >10 prolonged bouts per day were followed for a period of 1.3-12 years (mean, 6 years). Seven cases were defined as symptomatic: cortical magnetic resonance imaging revealed a hypothalamic hamartoma in four patients and cortical abnormalities in three others. Seizure control was achieved in four patients, including a neonate with status gelasticus and hypothalamic hamartoma, and partial control in one more. Five children remained resistant to polytherapy, including three with hypothalamic hamartoma even after two of them underwent hemartoma excision. Thus, children with gelastic seizures may respond relatively well to drug therapy. Four of the 10 patients became seizure free with drug therapy; in three intractable symptomatic cases, surgery was tried but failed in two of the three.     

Stereotactic radiofrequency thermocoagulation for hypothalamic hamartoma with intractable gelastic seizures

Management of hypothalamic hamartoma with intractable gelastic epilepsy remains controversial. We have used stereotactic thermocoagulation for treatment of hypothalamic hamartoma with intractable gelastic epilepsy since 1997. Herein, we review our experience in five cases to clarify the usefulness of this treatment. A total of five patients with hypothalamic hamartoma were treated by stereotactic thermocoagulation at our hospital during the period October 1997 through February 2004. In all patients, the hamartoma was less than 10mm in diameter and was located on the floor of the third ventricle with sessile attachment to the wall. To identify ictal onset, chronic intracranial electroencephalography was performed in three patients with the use of a depth electrode implanted in the hamartoma. Attempts were made to induce gelastic seizure by electrical stimulation of the hamartoma in three patients. After magnetic resonance imaging-guided targeting, radiofrequency thermocoagulation of the boundary between the hamartoma and normal hypothalamus was performed to achieve disconnection effects. Marked reductions in seizure frequency were obtained in all cases, with three patients becoming seizure-free after the procedure. No intraoperative complications occurred except in one patient who experienced acute and transient panidrosis with hot flushes during coagulation. Our results suggest that stereotactic thermocoagulation of hypothalamic hamartoma is an acceptable treatment option for patients with intractable gelastic seizures.     

Semiologic aspects of epileptic seizures in 31 patients with hypothalamic hamartoma

Purpose: Characterization of seizure semiology in patients with hypothalamic hamartoma (HH) based on video–electroencephalography (EEG) monitoring (VEM). Methods: We retrospectively analyzed seizure semiology of 31 patients (20 male, mean age 23.5 years) who underwent VEM at the University Hospitals Freiburg or Heidelberg, Germany. Inclusion criteria were magnetic resonance evidence of an HH, no prior surgical or radiosurgical treatment, and at least two video‐documented seizures. A total of 263 seizures were included (mean number of seizures/patient 8.5, range 2–10). To analyze age‐dependent changes in seizure semiology, patients were grouped into “children” (3–11 years, n = 5), “adolescents” (12–17 years, n = 4), and “adults” (≥18 years, n = 22). Results: According to patient history, gelastic seizures had occurred in all patients, in 74% as the initial seizure type at epilepsy onset. In VEM, epileptic laughter varied from facial grinning to intense contractions of the diaphragm and body shaking. Unilateral motor signs were seen ipsi‐ and contralaterally to the HH. Tonic seizures were frequent and did not depend on the state of vigilance. Children, in contrast to adults and adolescents, did not show secondarily generalized tonic–clonic seizures, the gelastic component was the dominating and initial semiologic element, and seizures were significantly shorter. Conclusion: Seizure semiology is highly variable and age dependent. This may reflect network modulations with different propagation of ictal activity and/or secondary epileptogenesis. Detailed knowledge about such changes may contribute to both earlier recognition of seizures during childhood and better assignment of seizure types to a hypothalamic origin.     

Giant hypothalamic hamartoma and dacrystic seizures.

Ictal crying is a rare type of epileptic seizure associated with hypothalamic hamartoma and with other lesions such as tumours, vascular malformations, hippocampal sclerosis, or cerebral infarction. We describe the case of an infant with gelastic, dacrystic and other types of seizures associated with a giant hypothalamic hamartoma, and present a video sequence of dacrystic seizures. Dacrystic episodes presented in clusters at sleep onset, initially in the form of moaning followed by face-flushing that rapidly evolved to crying, associated with a lateral and upper deviation of both eyeballs, along with clonic aspects of the eyelids. After a few seconds, the crying became less intense, she stared, and oro-alimentary automatisms became prominent along with some slow horizontal movements of the eyes and the head. Following surgery, at the age of nine months, the gelastic seizures stopped, but dacrystic seizures persisted. [Published with video sequences].     

Gelastic seizures: Incidence,clinical and EEG features in adult patients undergoing video‐EEG telemetry

This study aimed to determine clinical features of adult patients with gelastic seizures recorded on video –electroencephalography (EEG) over a 5‐year period. We screened video‐EEG telemetry reports for the occurrence of the term “gelastic” seizures, and assessed the semiology, EEG features, and duration of those seizures. Gelastic seizures were identified in 19 (0.8%) of 2,446 admissions. The presumed epileptogenic zone was in the hypothalamus in one third of the cases, temporal lobe epilepsy was diagnosed in another third, and the remainder of the cases presenting with gelastic seizures were classified as frontal, parietal lobe epilepsy or remained undetermined or were multifocal. Gelastic seizures were embedded in a semiology, with part of the seizure showing features of automotor seizures. A small proportion of patients underwent epilepsy surgery. Outcome of epilepsy surgery was related to the underlying pathology; two patients with hippocampal sclerosis had good outcomes following temporal lobe resection and one of four patients with hypothalamic hamartomas undergoing gamma knife surgery had a good outcome.     

Aggression and psychiatric comorbidity in children with hypothalamic hamartomas and their unaffected siblings

OBJECTIVE: To assess aggression and psychiatric comorbidity in a sample of children with hypothalamic hamartomas and gelastic seizures and to assess psychiatric diagnoses in siblings of study subjects. METHOD: Children with a clinical history of gelastic seizures and hypothalamic hamartomas (n = 12; age range 3-14 years) had diagnoses confirmed by video-EEG and head magnetic resonance imaging. Structured interviews were administered, including the Diagnostic Interview for Children and Adolescents-Revised Parent Form (DICA-R-P), the Test of Broad Cognitive Abilities, and the Vitiello Aggression Scale. Parents were interviewed with the DICA-R-P about each subject and a sibling closest in age without seizures and hypothalamic hamartomas. Patients were seen from 1998 to 2000. RESULTS: Children with gelastic seizures and hypothalamic hamartomas displayed a statistically significant increase in comorbid psychiatric conditions, including oppositional defiant disorder (83.3%) and attention-deficit/hyperactivity disorder (75%). They also exhibited high rates of conduct disorder (33.3%), speech retardation/learning impairment (33.3%), and anxiety and mood disorders (16.7%). Significant rates of aggression were noted, with 58% of the seizure patients meeting criteria for the affective subtype of aggression and 30.5% having the predatory aggression subtype. Affective aggression was significantly more common (p < .05). Unaffected siblings demonstrated low rates of psychiatric pathology on semistructured parental interview and no aggression as measured by the Vitiello Aggression Scale. CONCLUSIONS: Children with hypothalamic hamartomas and gelastic seizures had high rates of psychiatric comorbidity and aggression. Parents reported that healthy siblings had very low rates of psychiatric pathology and aggression.     

Cognitive deficits in children with gelastic seizures and hypothalamic hamartoma.

OBJECTIVE: To characterize the cognitive deficits in children with gelastic seizures and hypothalamic hamartoma and investigate the relationship of seizure severity to cognitive abilities. METHODS: Eight children with gelastic seizures and hypothalamic hamartoma completed a neuropsychological battery of standardized and age-normed tests, including the Woodcock-Johnson Psycho-Educational Battery-Revised: Tests of Cognitive Ability, Peabody Picture Vocabulary Test-III, and initial-letter word fluency measure. RESULTS: All children displayed cognitive deficits, ranging from mild to severe. Gelastic/complex partial seizure severity was correlated with broad cognitive ability standard scores (r = -0.79; r2 = 0.63; (F[1,6] = 10.28; p = 0.018]. Frequency of gelastic/complex partial seizures was also correlated with broad cognitive ability standard scores (r = -0.72; r2 = 0.52; F[1,6] = 6.44; p = 0.044). Significant intracognitive standard score differences were found, with relative weaknesses in long-term retrieval (mean = 64.1; SD = 13.3) and processing speed (mean = 67.7; SD = 21.6) and a relative strength in visual processing (mean = 97.6; SD = 12.8). Performance in visual processing differed from performance in long-term retrieval (p = 0.009) and processing speed (p = 0.029). CONCLUSION: These findings are consistent with cognitive functions and affective/emotional states associated with conduction pathways of the hypothalamus involving cortical association areas and amygdala and hippocampal formation. These abnormalities can account for the prominent deficit found in integrating information in the processing of memories.