A gelastic seizure, also known as "gelastic epilepsy", is a rare type of seizure that involves a sudden burst of energy, usually in the form of laughing. [1] This syndrome usually occurs for no obvious reason and is uncontrollable. It is slightly more common in males than females.
This syndrome can go for very long periods of time without a diagnosis, as it may resemble normal laughing or crying if it occurs infrequently. It has been associated with several conditions, such as temporal and frontal lobe lesions, tumors, atrophy, tuberous sclerosis, hemangiomas, and post-infectious foci, but mainly hypothalamic hamartomas.
The term "gelastic" originates from the Greek word "gelos", which means laughter.
The main sign of a gelastic seizure is a sudden outburst of laughter with no apparent cause. [1] The laughter may sound unpleasant and sardonic rather than joyful. 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 has 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. The temporal lobes, and the hypothalamus are the areas of the brain with the most involvement with these seizures. This may cause learning disabilities, and faulted cognitive function as well.[ citation needed ] It is not uncommon for children to have tonic-clonic seizures, and atonic seizures directly following the seizure. Those that are associated with hypothalamic hamartomas may occur as often as several times hourly and typically begin during infancy. Seizures that occur in infancy may include bursts of cooing, respirations, giggling, and smiling. Due to early hypothalamic-pituitary-gonadal axis activation in girls who have the seizures, it is not uncommon for them to display secondary sex characteristics before the age of eight. [2]
A gelastic seizure is classically associated with a hypothalamic hamartoma [3] (a type of brain tumor). A hypothalamic hamartoma is defined as a benign mass of glial tissue on or near the hypothalamus. The size of the hamartoma can vary from one centimeter to larger than three centimeters. They can cause several different types of seizures including a Gelastic Seizure. These structures can be detected with different imaging modalities such as computed tomography, magnetic resonance imaging, Single Photon emission computed tomography (SPECT) and Positron Emission Tomography (PET-CT). A computed tomography scan of an individual with a hypothalamic hamartoma would reveal a suprasellar mass with the same density as brain tissue. Images of these masses are not enhanced with the use of contrast. However, although a computed tomography scan may be useful in diagnosing the cause of a seizure, in the case of a hypothalamic hamartoma, magnetic resonance imaging is the tool of choice due to the cerebrospinal fluid which defines these masses. Single Photon emission computed tomography (SPECT) may also be used which involves the use of a radiotracer that is taken up by the ictal region of the brain where, typically the tumor lies. Positron Emission Tomography (PET-CT) using F-18 fluorodeoxyglucose (FDG) show reduced metabolism at the site of seizure onset. Gelastic seizures have been observed after taking a birth control pill (Maxim (R)).
Optic nerve hypoplasia is the only reported condition with gelastic seizures without hypothalamic hamartomas, suggesting that hypothalamic disorganization alone can cause gelastic seizures. [4]
Very likely gelastic seizures were already recognized at the time of Babylonian medicine. [5] A detailed description was given by the Scottish physician Robert Whytt in 1765, [6] and the term "gelastic seizure" was coined in 1898 by the French neurologist, neuropathologist and epileptologist Charles Féré. [7]
Gelastic syncope was also referred to in one paper also as "Seinfeld syncope" after an incident in which a patient repeatedly fainted while watching an episode of Seinfeld . [11]
Positron emission tomography (PET) is a functional imaging technique that uses radioactive substances known as radiotracers to visualize and measure changes in metabolic processes, and in other physiological activities including blood flow, regional chemical composition, and absorption. Different tracers are used for various imaging purposes, depending on the target process within the body. For example, 18
F
-FDG is commonly used to detect cancer, NaF18
F
is widely used for detecting bone formation, and oxygen-15 is sometimes used to measure blood flow.
Single-photon emission computed tomography is a nuclear medicine tomographic imaging technique using gamma rays. It is very similar to conventional nuclear medicine planar imaging using a gamma camera, but is able to provide true 3D information. This information is typically presented as cross-sectional slices through the patient, but can be freely reformatted or manipulated as required.
Death from laughter is a supposedly extremely rare form of death, usually resulting from either cardiac arrest or asphyxiation, that has itself been caused by a fit of laughter. Instances of death by laughter have been recorded from the times of ancient Greece to modern times. Often, the phrase "dying from laughter" is used as hyperbole.
Perfusion is the passage of fluid through the circulatory system or lymphatic system to an organ or a tissue, usually referring to the delivery of blood to a capillary bed in tissue. Perfusion is measured as the rate at which blood is delivered to tissue, or volume of blood per unit time per unit tissue mass. The SI unit is m3/(s·kg), although for human organs perfusion is typically reported in ml/min/g. The word is derived from the French verb "perfuser" meaning to "pour over or through". All animal tissues require an adequate blood supply for health and life. Poor perfusion (malperfusion), that is, ischemia, causes health problems, as seen in cardiovascular disease, including coronary artery disease, cerebrovascular disease, peripheral artery disease, and many other conditions.
A hamartoma is a mostly benign, local malformation of cells that resembles a neoplasm of local tissue but is usually due to an overgrowth of multiple aberrant cells, with a basis in a systemic genetic condition, rather than a growth descended from a single mutated cell (monoclonality), as would typically define a benign neoplasm/tumor. Despite this, many hamartomas are found to have clonal chromosomal aberrations that are acquired through somatic mutations, and on this basis the term hamartoma is sometimes considered synonymous with neoplasm. Hamartomas are by definition benign, slow-growing or self-limiting, though the underlying condition may still predispose the individual towards malignancies.
Neuroimaging is the use of quantitative (computational) techniques to study the structure and function of the central nervous system, developed as an objective way of scientifically studying the healthy human brain in a non-invasive manner. Increasingly it is also being used for quantitative studies of brain disease and psychiatric illness. Neuroimaging is a highly multidisciplinary research field and is not a medical specialty.
Pallister–Hall syndrome is a disorder that affects the development of many parts of the body.
Foix–Chavany–Marie Syndrome (FCMS), also known as bilateral opercular syndrome, is a neuropathological disorder characterized by paralysis of the facial, tongue, pharynx, and masticatory muscles of the mouth that aid in chewing. The disorder is primarily caused by thrombotic and embolic strokes, which cause a deficiency of oxygen in the brain. As a result, bilateral lesions may form in the junctions between the frontal lobe and temporal lobe, the parietal lobe and cortical lobe, or the subcortical region of the brain. FCMS may also arise from defects existing at birth that may be inherited or nonhereditary. Symptoms of FCMS can be present in a person of any age and it is diagnosed using automatic-voluntary dissociation assessment, psycholinguistic testing, neuropsychological testing, and brain scanning. Treatment for FCMS depends on the onset, as well as on the severity of symptoms, and it involves a multidisciplinary approach.
Epilepsy surgery involves a neurosurgical procedure where an area of the brain involved in seizures is either resected, ablated, disconnected or stimulated. The goal is to eliminate seizures or significantly reduce seizure burden. Approximately 60% of all people with epilepsy have focal epilepsy syndromes. In 15% to 20% of these patients, the condition is not adequately controlled with anticonvulsive drugs. Such patients are potential candidates for surgical epilepsy treatment.
A lung nodule or pulmonary nodule is a relatively small focal density in the lung. A solitary pulmonary nodule (SPN) or coin lesion, is a mass in the lung smaller than three centimeters in diameter. A pulmonary micronodule has a diameter of less than three millimetres. There may also be multiple nodules.
Nuclear medicine physicians, also called nuclear radiologists, are medical specialists that use tracers, usually radiopharmaceuticals, for diagnosis and therapy. Nuclear medicine procedures are the major clinical applications of molecular imaging and molecular therapy. In the United States, nuclear medicine physicians are certified by the American Board of Nuclear Medicine and the American Osteopathic Board of Nuclear Medicine.
Rubidium-82 (82Rb) is a radioactive isotope of rubidium. 82Rb is widely used in myocardial perfusion imaging. This isotope undergoes rapid uptake by myocardiocytes, which makes it a valuable tool for identifying myocardial ischemia in Positron Emission Tomography (PET) imaging. 82Rb is used in the pharmaceutical industry and is marketed as Rubidium-82 chloride under the trade names RUBY-FILL and CardioGen-82.
Neuro-oncology is the study of brain and spinal cord neoplasms, many of which are very dangerous and life-threatening. Among the malignant brain cancers, gliomas of the brainstem and pons, glioblastoma multiforme, and high-grade astrocytoma/oligodendroglioma are among the worst. In these cases, untreated survival usually amounts to only a few months, and survival with current radiation and chemotherapy treatments may extend that time from around a year to a year and a half, possibly two or more, depending on the patient's condition, immune function, treatments used, and the specific type of malignant brain neoplasm. Surgery may in some cases be curative, but, as a general rule, malignant brain cancers tend to regenerate and emerge from remission easily, especially highly malignant cases. In such cases, the goal is to excise as much of the mass and as much of the tumor margin as possible without endangering vital functions or other important cognitive abilities. The Journal of Neuro-Oncology is the longest continuously published journal in the field and serves as a leading reference to those practicing in the area of neuro-oncology.
Tuber cinereum hamartoma is a benign tumor in which a disorganized collection of neurons and glia accumulate at the tuber cinereum of the hypothalamus on the floor of the third ventricle. It is a congenital malformation, included on the spectrum of gray matter heterotopias. Formation occurs during embryogenesis, typically between days 33 and 41 of gestation. Size of the tumor varies from one to three centimeters in diameter, with the mean being closer to the low end of this range. It is estimated to occur at a frequency of one in one million individuals.
Vertiginous epilepsy is infrequently the first symptom of a seizure, characterized by a feeling of vertigo. When it occurs, there is a sensation of rotation or movement that lasts for a few seconds before full seizure activity. While the specific causes of this disease are speculative there are several methods for diagnosis, the most important being the patient's recall of episodes. Most times, those diagnosed with vertiginous seizures are left to self-manage their symptoms or are able to use anti-epileptic medication to dampen the severity of their symptoms.
Emission computed tomography (ECT) is a type of tomography involving radioactive emissions.
Brain positron emission tomography is a form of positron emission tomography (PET) that is used to measure brain metabolism and the distribution of exogenous radiolabeled chemical agents throughout the brain. PET measures emissions from radioactively labeled metabolically active chemicals that have been injected into the bloodstream. The emission data from brain PET are computer-processed to produce multi-dimensional images of the distribution of the chemicals throughout the brain.
Iomazenil is an antagonist and partial inverse agonist of benzodiazepine and a potential treatment for alcohol use disorder. The compound was introduced in 1989 by pharmaceutical company Hoffmann-La Roche as an Iodine-123-labelled SPECT tracer for imaging benzodiazepine receptors in the brain. Iomazenil is an analogue of flumazenil (Ro15-1788).
A cavernous liver hemangioma or hepatic hemangioma is a benign tumor of the liver composed of hepatic endothelial cells. It is the most common benign liver tumour, and is usually asymptomatic and diagnosed incidentally on radiological imaging. Liver hemangiomas are thought to be congenital in origin. Several subtypes exist, including the giant hepatic haemangioma, which can cause significant complications.
A central nervous system tumor is an abnormal growth of cells from the tissues of the brain or spinal cord. CNS tumor is a generic term encompassing over 120 distinct tumor types. Common symptoms of CNS tumors include vomiting, headache, changes in vision, nausea, and seizures. A CNS tumor can be detected and classified via neurological examination, medical imaging, such as x-ray imaging, magnetic resonance imaging (MRI) or computed tomography (CT), or after analysis of a biopsy.
{{cite web}}
: CS1 maint: archived copy as title (link)