Gelastic Epilepsy What is Gelastic Epilepsy? A gelastic seizure is defined as sudden occurrence of emotions in the form of a laugh or a cry. Usually the seizure lasts around 5 to 60 seconds. In most cases gelastic seizures are associated with other seizure types. There are a wide range of causes for gelastic seizures, and neuroimaging investigations MRI are often required to delineate the cause.
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All rights reserved This article has been cited by other articles in PMC. Abstract 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. Keywords: epilepsy, gelastic seizures, epilepsy surgery, hypothalamic hamartoma, intractable epilepsy Historical note and clinical description of gelastic seizures Laughing seizures were first described by Trousseau Trousseau described a patient that had a seizure in a regular clinic visit characterized by vertigo and jerking bursts of laughter.
When Trousseau asked the patient why he laughed, the patient was surprised with the question because he was not aware during the spell. Some years later Gowers observed emotions with a cheerful character as a part of a seizure.
Gascon and Lombroso proposed some criteria for gelastic epilepsy including stereotyped recurrence, absence of external precipitants, concomitant manifestations accepted as epileptic, presence of interictal electroencephalography EEG abnormalities and absence of conditions that can cause pathologic laughter.
Gascon and Lombroso also suggested the importance of diencephalic lesions in many cases as a cause of the gelastic seizures GS.
GS are epileptic events characterized by bouts of laughter Gascon and Lombroso Laughter-like vocalization is usually combined with facial contraction in the form of a smile Pendl Autonomic features such as tachycardia, flushing, and altered respiration are widely recognized Cerullo et al Mirth sensation during GS is not frequent and many adults report more commonly an unpleasant epigastric sensation Striano et al Some patients describe an urge to laugh that sometimes can be suppressed Sturm et al GS are rarely diagnosed at onset.
They may be mistaken by normal laughter or misdiagnosed as infantile colic Penfold et al ; Tassinari et al The complexity of the diagnosis is based on the fact that ictal and interictal EEG usually are normal or with nonspecific findings. Some patients can have coexistence of gelastic and dacrystic seizures. Dacrystic seizures DS were described by Sethi and Rao Dacrystic episodes can present in clusters at sleep onset, some patients can moan at the onset, with face-flushing that rapidly evolves into crying, associated with facial oro-alimentary automatisms Lopez-Laso et al Localization of gelastic seizures GS have been related classically with hypothalamic hamartomas HHs , although several descriptions have mentioned other locations Harvey and Freeman Mohamed and colleagues reported a case of a patient with GS originated over the anterior cingulate region.
The seizure onset was demonstrated with EEG and magnetoencephalography MEG and the patient became seizure-free after resection. Other cases in the cingulate region have been described before McConachie and King Some reports have described GS with frontal onset. This patient did not have a HH and was successfully treated with medication. Garcia and colleagues reported another case with frontal onset in a three-and-a-half-year-old baby who was successfully treated with viga-batrin.
Shin and colleagues described another case where the seizure onset was localized in the parietal area. Finally some authors have presented convincing reports of GS from the temporal area. Dericioglu and colleagues reported a patient with GS associated with an area of cortical dysplasia over the right temporal area. The patient had a temporal lobectomy and became seizure free.
On the other hand, the localization for dacrystic seizures is similar to patients with GS. Reports of patients with coexistence of both types of seizures are associated with HHs Lopez-Laso et al , although Kahane et al some reports have described dacrystic seizures in patients with temporal epilepsy de Seze et al ; Dan and Boyd Syndrome of hypothalamic hamartoma and gelastic seizures GS are almost always the first seizure manifestation of HH.
Only rarely other types of seizures are the first presentation of HH. GS start in infancy in over one third of patients Maixner Neonatal onset of seizures is widely reported, as early as the first day Kito et al GS usually occur with high frequency and periodicity, especially in children.
The natural history of children who present with early onset of GS is the progression to intractable epilepsy Berkovic et al Typically this occurs between the ages of 4 to 10 years and involves the presence of multiple types of seizures, including complex partial seizures with or without secondary generalization, generalized tonic-clonic seizures and drop attacks Brandberg et al ; Striano et al Also when GS appear during the neonatal period, the association with infantile spasms has been described Gomibuchi et al Only a few reports have described control of GS with medication Mullatti , in general all the studies have shown that patients with gelastic epilepsy eventually become intractable to medication Brandberg et al ; Striano et al ; Maixner However, not all the children progress to intractability.
This syndrome is an autosomal dominant inheritable disorder characterized by HHs, polydactyly, laryngeal malformations such as bifid epiglottis, pulmonary segmentation anomalies, imperforate anus, and panhypopituitarism. In the study of Boudreau and colleagues , patients with PHS had less frequent and less severe seizures.
On the other hand, patients with PHS have more frequent endocrinologic abnormalities than patients with the syndrome of GS associated with HH, and some of them can develop panhypopituitarism Biesecker The pattern of GS may change over time, especially when patients become adults. Clinical presentation is different in adult patients.
Mullatti described a series of 14 adult patients with GS and HHs and some observations are interesting and different from children. Compared with children, adult patients have a less severe epilepsy syndrome, less severe learning and behavior difficulties, and better occupation and social status.
Also, it has been described that adult patients have a better response to surgical treatment and some of them could be controlled with medication Mullatti The presence of cognitive problems in patients with GS has been reported extensively Berkovic et al Quiske and colleagues performed comprehensive neuropsychological testing in 13 patients with GS associated with HHs.
In this study more than half of the patients displayed deficits in a broad range of cognitive functions, expressed mostly in visual and verbal learning and memory. According to the authors some of the deficits could correlate with disease-related characteristics representing the severity of the epilepsy or the size of the underlying lesion. Other studies have shown similar findings Deonna and Ziegler ; Frattali et al ; Nguyen et al In general the majority of authors agree that the presence of cognitive dysfunction is more frequent in patients with intractable epilepsy and patients with a long history of seizures Deonna and Ziegler ; Nguyen et al On the other hand some authors have reported that the severity of the cognitive dysfunction is more frequent in patients with large HHs Quiske et al Another issue that has been addressed in patients with GS and HH is the presence of psychiatric comorbidity.
Weissenberger and colleagues performed structured interviews in 12 patients with GS using as controls, the siblings of patients. Children with GS and HH displayed a higher rate of comorbid psychiatric conditions than controls, these included oppositional defiant disorder Same observations have been reproduced in other series of patients with GS and HH Brandberg et al ; Maixner The risk factors associated with the presence of psychiatric comorbidity are unknown, although some authors suggest that patients with frequent seizures are more predisposed to having this type of comorbidity Prigatano Precocious puberty is a clinical finding that has been reported frequently in patient with GS associated with HH.
On the other hand HHs, are not associated with other endocrinologic abnormalities such as growth failure, diabetes insipidus, and hypogonadism, in contrast with other hypothalamic pathologies such as astrocytomas, gliomas and craniopharyngiomas where the frequency is higher. This difference has been explained by the nature of the HH, which is a lesion that has a tendency to displace rather than replace normal structures Freeman et al b.
The association between central precocious puberty and GS was first described in a child who had a hypothalamic tumor attached to the tuber cinereum and mamillary bodies Dott The pathophysiology of precocious puberty has not been established but some observations have been done. Jung and colleagues analyzed the localization of the HH and the correlation with the clinical symptoms. Ninety-one percent of HHs in patients with isolated precocious puberty revealed a parahypothalamic position without affecting the third ventricle.
Some authors have postulated that the mechanism of precocious puberty in patients with HH is related with the activation of endogenous human luteinizing hormone-releasing hormone gene LHRH secretion via astroglial-derived factors and induction of hypothalamic pubertal neuroendocrine function by HH secretion of transforming growth factor Jung and Ojeda Pathophysiology of gelastic seizures Many advances have been achieved regarding the pathophysiology of GS in recent years.
Currently it is very well known that the HH is the source for the seizures in these patients. The clinical evidence is as follows; a the production of laughter and GS from the stimulation of the HH with depth electrodes Cascino et al ; Kahane et al , b the recording of ictal fast activity from the HH during GS using intracranial recordings Kuzniecky et al ; Kahane et al , c the observation of ictal HH hyperperfusion and hypermetabolism with SPECT and positron emission tomography PET Kuzniecky et al ; DiFazio and Davis ; Palmini et al , and d the resolution of seizures with resection, ablation, or irradiation of the HH Regis and Roberts ; Rosenfeld et al ; Kuzniecky and Guthrie ; Regis et al Recent advances have demonstrated intrinsic epileptogenicity of the HH.
Two populations of neurons have been shown in HH small and large neurons. Small neurons are spontaneously firing neurons that express GABA receptors, making them inhibitory in nature Fenoglio et al The second group are large, pyramidal like neurons that hyper-polarize in repose to GABA agonist.
It is proposed that the chronic epileptogenesis of HH is related with the cluster of small GABAergic neurons, firing action potentials spontaneously and synapse onto the large pyramidal neurons, synchronizing the activity of the large output neurons Wu et al , Alternative theories suggest that the small neurons could have similarities in morphology and function with neurons from lesions of cortical dysplasia, being potentially epileptogenic Fenoglio et al Also the possibility of ephaptic mechanisms, possibly trough gap junction and astroglial involvement has been suggested Fenoglio et al Electrophysiology and type of seizures in patients with gelastic seizures associated with HH Scalp EEG is very limited in order to show epileptiform activity due to the deep localization of the lesion and the complex connections of the HHs Maixner In early stages of the illness, the interictal EEG usually is normal Arzimanoglou et al ; Mullatti et al After some years of evolution, electrographic changes consistent with lobar involvement may become apparent Freeman et al a.
The EEG in many patients shows multifocal epileptiform activity Kitajima et al Also in children it is possible to see ictal and interictal generalized polyspike waveform discharges Freeman et al a. Complex partial seizures are frequently seen in patients with GS associated with HHs. In some patients the distinction between GS and complex partial seizures can be difficult to ascertain on history and on video analysis Harvey and Freeman Epigastric discomfort, fear, oral and bimanual automatisms, axial movements and complex bi-pedal movements are frequently reported during complex partial seizures in patients with HH Kuzniecky et al ; Maixner Sweetman and colleagues reported 6 patients that were misdiagnosed with gastroesophageal reflux; all of them had GS associated with HHs.
The symptoms in this group of patients included regurgitation, irritability, arching, choking, and apnea.
See also: Pseudobulbar affect The main sign of a gelastic seizure is a sudden outburst of laughter or crying with no apparent cause. The outburst usually lasts for less than a minute. During or shortly after a seizure, an individual might display some twitching, strange eye movements, lip smacking, fidgeting or mumbling. If a person who suffers from the seizures is hooked up to an electroencephalogram , it will reveal interictal epileptic discharges. This syndrome usually manifests itself before the individual reaches the age of three or four.