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Infantile Epileptic Spasms Syndrome
Infantile epileptic spasms syndrome (IESS) previously known as West syndrome needs the inclusion of epileptic spasms for diagnosis. Epileptic spasms (also known as infantile spasms) may also occur outside of a syndrome (that is, in the absence of hypsarrhythmia and cognitive regression) - notably in association with severe brain disorders (e.g. lissencephaly). IESS is an epileptic encephalopathy, a childhood epilepsy syndrome arising during infancy. It can often arise as a complication of various other medical conditions. It is clinically defined by the occurrence of the characteristic epileptic spasms, episodes of clusters of tonic spasms of the axial and limb musculature. Such spasms are found in association with characteristic abnormal EEG pattern findings (hypsarrhythmia), and cognitive delay or deterioration. The peak age of onset is 4-6 months of age, with 90% of cases presenting during the first year of life. The spasms are usually resistant to conventional antiepileptics. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypsarrhythmia
Hypsarrhythmia is very chaotic and disorganized brain electrical activity with no recognizable pattern, whereas a normal brain electrical activity shows clear separation between each signal and visible pattern. It is an abnormal interictal pattern, consisting of high amplitude and irregular waves and spikes in a background of chaotic and disorganized activity seen on electroencephalogram (EEG), and frequently encountered in infants diagnosed with infantile spasms, although it can be found in other conditions such as tuberous sclerosis. Gibbs and Gibbs described hypsarrhythmia (originally spelled with one 'r') in 1952 as "...random high voltage waves and spikes. These spikes vary from moment to moment, both in time and in location. At time they appear to be focal, and a few seconds later they seem to originate from multiple foci. Occasionally the spike discharge becomes generalized, but it never appears as a rhythmically repetitive and highly organized pattern that could be confuse ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Jackknife (exercise)
A jackknife is an abdominal exercise. This exercise is also known as a "V-Up". Jackknife exercises are designed to strengthen the upper and lower abdominal muscles, particularly the transversus abdominis muscle. There are a number of variations of jackknife exercises that allow people of different ages and ability to work their abdominal muscles. This exercise can be modified by using an exercise ball. The jackknife can be done by lying flat on your back with your arms extended overhead and your feet raised slightly above the floor. The jackknife is completed by slowly bringing your straight arms toward your hips, and lifting your upper torso off the floor. Instructions *Preparation.- Sit on floor or mat. Lie supine with hands to sides. *Execution.- Simultaneously raise knees and torso until hips and knees are flexed. Return to starting position with waist, hips and knees extended. Repeat. See also *Wii Fit is a 2007 exergaming video game developed and published ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phakomatosis
Phakomatoses, also known as neurocutaneous syndromes, are a group of multisystemic diseases that most prominently affect structures primarily derived from the ectoderm such as the central nervous system, skin and eyes. The majority of phakomatoses are single-gene disorders that may be inherited in an autosomal dominant, autosomal recessive or X-linked pattern. Presentations may vary dramatically between patients with the same particular syndrome due to mosaicism, variable expressivity, and penetrance. Many phakomatoses are caused by mutations which alter functioning of the RAS–mitogen-activated protein kinase (MAPK) pathway and the PI3K/AKT/mTOR pathway that regulates cellular growth, differentiation, proliferation and death. This results in a tendency for individuals with these mutations to develop various types of benign or malignant tumors depending on the particular mutation. The presence of these tumors may result in functional and/or cosmetic problems depending on their t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aicardi Syndrome
Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal lacunes, and epileptic seizures in the form of infantile spasms. Other malformations of the brain and skeleton may also occur. The syndrome includes intellectual disability that is usually severe or moderate. So far, the syndrome has only been diagnosed in girls and in boys with two X chromosomes (Klinefelter syndrome). Those with Aicardi syndrome are in need of various specialist and habilitation instances. Epilepsy is treated with medication, but additional treatment may also be needed. In order to utilize the individual's eyesight and investigate the need for visual aids, examination by ophthalmologist is indicated early in life. Problems from the gastrointestinal tract are frequent. In adulthood, continued habilitation efforts and support in daily life are needed. The syndrome is named ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gray Matter Heterotopia
MRI of a child experiencing seizures. There are small foci of grey matter heterotopia in the corpus callosum, deep to the Cortical dysplasia">dysplastic cortex. (double arrows)">Heterotopia (medicine)">heterotopia in the corpus callosum, deep to the Cortical dysplasia">dysplastic cortex. (double arrows) Gray matter heterotopia is a neurological disorder caused by gray matter being located in an atypical location in the brain. Grey matter Heterotopia (medicine), heterotopia is characterized as a type of focal cortical dysplasia. The neurons in heterotopia are otherwise healthy; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function. Symptoms vary in severity; the condition is occasionally discovered as an incidentaloma when brain imaging performed for an unrelated problem and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Polymicrogyria
Polymicrogyria (PMG) is a condition that affects the development of the human brain by multiple small gyri ( microgyri) creating excessive folding of the brain leading to an abnormally thick cortex. This abnormality can affect either one region of the brain or multiple regions. The time of onset has yet to be identified; however, it has been found to occur before birth in either the earlier or later stages of brain development. Early stages include impaired proliferation and migration of neuroblasts, while later stages show disordered post-migration development. The symptoms experienced differ depending on what part of the brain is affected. There is no specific treatment to get rid of this condition, but there are medications that can control the symptoms such as seizures, delayed development or weakened muscles as some of the noted effects. Syndromes Significant technological advances have been made within the past few decades that have allowed more extensive studies to be ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pachygyria
Pachygyria ( gyri) is a congenital malformation of the cerebral hemisphere. It results in unusually thick convolutions of the cerebral cortex. Typically, children have developmental delay and seizures, the onset and severity depending on the severity of the cortical malformation. Infantile spasms are common in affected children, as is intractable epilepsy. Presentation The term 'pachygyria' does not directly relate to a specific malformation but rather is used to generally describe physical characteristics of the brain in association with several neuronal migration disorders; most commonly disorders relating to varied degrees of lissencephaly. Lissencephaly is present in 1 of 85,470 births and the life span of those affected is short as only a few survive past the age of 20. Pachygyria is a condition identified by a type of cortical genetic malformation. Clinicians will subjectively determine the malformation based on the degree of malposition and the extent of thickened abno ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Porencephaly
Porencephaly is an extremely rare cephalic disorder involving encephalomalacia. It is a neurological disorder of the central nervous system characterized by cysts or Body cavity, cavities within the cerebral hemisphere.Parker, J. (2004). The official parent's sourcebook on porencephaly: A revised and updated directory for the internet age. ICON Health Publications. Porencephaly was termed by Heschl in 1859 to describe a cavity in the human brain. Derived from Greek language, Greek roots, the word ''porencephaly'' means 'holes in the brain'. The cysts and cavities (cystic brain lesions) are more likely to be the result of destructive (encephaloclastic) cause, but can also be from abnormal development (malformative), direct damage, inflammation, or hemorrhage. The cysts and cavities cause a wide range of physiological, physical, and neurological symptoms. Depending on the patient, this disorder may cause only minor neurological problems, without any disruption of intelligence, while ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lissencephaly
Lissencephaly (, meaning 'smooth brain') is a set of rare brain disorders whereby the whole or parts of the surface of the brain are smooth. It is caused by defective neuronal migration during the 12th to 24th weeks of gestation, resulting in a lack of development of brain folds (gyri) and grooves (sulci). It is a form of cephalic disorder. Terms such as ''agyria'' (no gyri) and '' pachygyria'' (broad gyri) are used to describe the appearance of the surface of the brain. Children with lissencephaly generally have significant developmental delays, but these vary greatly from child to child depending on the degree of brain malformation and seizure control. Life expectancy can be shortened, generally due to respiratory problems. Signs and symptoms Affected children display severe psychomotor impairment, failure to thrive, seizures, and muscle spasticity or hypotonia. Other symptoms of the disorder may include unusual facial appearance, difficulty swallowing, and anomalies of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Focal Cortical Dysplasia
Focal cortical dysplasia (FCD) is a congenital abnormality of brain development where the neurons in an area of the brain failed to migrate in the proper formation ''in utero''. ''Focal'' means that it is limited to a focal zone in any lobe. Focal cortical dysplasia is a common cause of intractable epilepsy in children and is a frequent cause of epilepsy in adults. There are three types of FCD with subtypes, including type 1a, 1b, 1c, 2a, 2b, 3a, 3b, 3c, and 3d, each with distinct histopathological features. All forms of focal cortical dysplasia lead to disorganization of the normal structure of the cerebral cortex: * Type 1 FCD exhibits subtle alterations in cortical lamination. * Type 2a FCD exhibits neurons that are larger than normal that are called dysmorphic neurons (DN). FCD type 2b exhibits complete loss of laminar structure, and the presence of DN and enlarged cells are called balloon cells (BC) for their large elliptical cell body shape, laterally displaced nucleus, an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cerebral Atrophy
Cerebral atrophy is a common feature of many of the diseases that affect the brain. Atrophy of any tissue means a decrement in the size of the cell, which can be due to progressive loss of cytoplasmic proteins. In brain tissue, atrophy describes a loss of neurons and the connections between them. Brain atrophy can be classified into two main categories: generalized and focal atrophy. Generalized atrophy occurs across the entire brain whereas focal atrophy affects cells in a specific location. If the cerebral hemispheres (the two lobes of the brain that form the cerebrum) are affected, conscious thought and voluntary processes may be impaired. Some degree of cerebral shrinkage occurs naturally with the dynamic process of aging. Structural changes continue during adulthood as brain shrinkage commences after the age of 35, at a rate of 0.2% per year. The rate of decline is accelerated when individuals reach 70 years old. By the age of 90, the human brain will have experienced a 15% ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cortical Dysplasia
Focal cortical dysplasia (FCD) is a congenital abnormality of brain development where the neurons in an area of the brain failed to migrate in the proper formation ''in utero''. ''Focal'' means that it is limited to a focal zone in any lobe. Focal cortical dysplasia is a common cause of intractable epilepsy in children and is a frequent cause of epilepsy in adults. There are three types of FCD with subtypes, including type 1a, 1b, 1c, 2a, 2b, 3a, 3b, 3c, and 3d, each with distinct histopathological features. All forms of focal cortical dysplasia lead to disorganization of the normal structure of the cerebral cortex: * Type 1 FCD exhibits subtle alterations in cortical lamination. * Type 2a FCD exhibits neurons that are larger than normal that are called dysmorphic neurons (DN). FCD type 2b exhibits complete loss of laminar structure, and the presence of DN and enlarged cells are called balloon cells (BC) for their large elliptical cell body shape, laterally displaced nucleus, an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
