A rare inherited (genetic) disorder in which the structure that connects the two sides of the brain (corpus callosum) is partly or completely missing.
Alice in Wonderland Syndrome (Micropsia)
A syndrome of distorted space, time and body image. The patient with the Alice in Wonderland syndrome has a feeling that their entire body or parts of it have been altered in shape and size. The syndrome is usually associated with visual hallucinations. The majority of patients with the syndrome has a family history of migraine headache or has overt migraine themselves.
The syndrome was first described in 1955 by the English psychiatrist John Todd (1914-1987). Todd named it, of course, for Alice’s Adventures in Wonderland by Lewis Carroll. Perhaps not coincidentally, Lewis Carroll suffered from severe migraine. Also known as a Lilliputian hallucination.
A genetic disorder that causes developmental delay and neurological problems. Infants with Angelman syndrome appear normal at birth, but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6 to 12 months. Seizures often begin between 2 and 3 years of age. Speech impairment is pronounced, with little to no use of words. Individuals with this syndrome often display hyperactivity, small head size, sleep disorders, movement and balance disorders that can cause severe functional deficits. Angelman syndrome results from absence of a functional copy of the UBE3Agene inherited from the mother.
Also known as Myoclonic-Astatic Epilepsy (MAE) is an epilepsy syndrome of early childhood that is often resistant to medication. For this reason, it can be difficult to treat. MAE is idiopathic generalized epilepsy, meaning that there is no known cause for the seizures (idiopathic) and the seizures originate from all over the brain (generalized) as opposed to coming from one focal area. Onset of MAE occurs commonly in the first five years of life, with the mean age being three. Statistics show that it usually affects children who have previously developed normally, and boys are twice as likely as girls to develop MAE. In some cases, other family members (immediate or extended) may also have seizures.
Also known as Severe Myoclonic Epilepsy of Infancy (SMEI) is a severe form of epilepsy. It appears during the first year of life with frequent febrile seizures – fever-related seizures that, by definition, are rare beyond age 5. Later, other types of seizures typically arise, including myoclonus (involuntary muscle spasms). Status epilepticus – a state of continuous seizure requiring emergency medical care – also may occur. Children with Dravet syndrome typically experience poor development of language and motor skills, hyperactivity, and difficulty relating to others.
In 30 to 80 percent of cases, Dravet syndrome is caused by defects in a gene required for the proper function of brain cells. Borderline SMEI (SMEB) and another type of infant-onset epilepsy called generalized epilepsy with febrile seizures plus (GEFS+) are caused by defects in the same gene. In GEFS+, febrile seizures may persist beyond age 5
Also known as Eyelid myoclonia with absences (EMA) is a generalized epileptic condition clinically characterized by eyelid myoclonia (EM) with or without absences, eye closure-induced electroencephalography (EEG) paroxysms, and photosensitivity; in addition, rare tonic-clonic seizures may also occur. Although first described in 1977 and widely reported by several authors within the last few years, EMA has not been yet recognized as a definite epileptic syndrome. However, when strict criteria are applied to the diagnosis, EMA appears to be a distinctive condition that could be considered a myoclonic epileptic syndrome, with myoclonia limited to the eyelids, rather than an epileptic syndrome with absences.
Rare, childhood neurological disorder characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and an abnormal electro-encephalogram (EEG). LKS affects the parts of the brain that control comprehension and speech. The disorder usually occurs in children between the ages of 5 and 7 years. Typically, children with LKS develop normally but then lose their language skills for no apparent reason. While many of the affected individuals have seizures, some do not. The disorder is difficult to diagnose and may be misdiagnosed as autism, pervasive developmental disorder, hearing impairment, learning disability, auditory/verbal processing disorder, attention deficit disorder, mental retardation, childhood schizophrenia, or emotional/behavioral problems.
Lennox-Gastaut Syndrome (LGS)
Lennox-Gastaut syndrome is a severe form of epilepsy. Seizures usually begin before 4 years of age. Seizure types, which vary among patients, include tonic (stiffening of the body, upward deviation of the eyes, dilation of the pupils, and altered respiratory patterns), atonic (brief loss of muscle tone and consciousness, causing abrupt falls), atypical absence (staring spells), and myoclonic (sudden muscle jerks). There may be periods of frequent seizures mixed with brief, relatively seizure-free periods. Most children with Lennox-Gastaut syndrome experience some degree of impaired intellectual functioning or information processing, along with developmental delays, and behavioral disturbances. Lennox-Gastaut syndrome can be caused by brain malformations, perinatal asphyxia, severe head injury, central nervous system infection and inherited degenerative or metabolic conditions. In 30-35 percent of cases, no cause can be found.
A neurological disorder characterized by seizures. The disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures. Infants have primarily tonic seizures, but may also experience partial seizures, and rarely, myoclonic seizures. Ohtahara syndrome is most commonly caused by metabolic disorders or structural damage in the brain, although the cause or causes for many cases can’t be determined. Most infants with the disorder show significant underdevelopment of part or all of the cerebral hemispheres. The EEGs of infants with Ohtahara Syndrome reveal a characteristic pattern of high voltage spike wave discharge followed by little activity. This pattern is known as “burst suppression.” Doctors have observed that boys are more often affected than girls.
Panayiotopoulos Syndrome (Childhood Autonomic Epilepsy)
Panayiotopoulos syndrome is a common idiopathic childhood-specific seizure disorder formally recognized by the International League Against Epilepsy. An expert consensus has defined Panayiotopoulos syndrome as a benign age-related focal seizure disorder occurring in early and mid-childhood. It is characterized by seizures, often prolonged, with predominantly autonomic symptoms, and by an EEG (electroencephalogram) that shows shifting and/or multiple foci, often with occipital predominance.
Ramsay Hunt Syndrome
Also known as Herpes zoster oticus or Ramsay Hunt Type 2 is a common complication of shingles. Shingles is an infection caused by the varicella-zoster virus, which is the virus that causes chickenpox. Shingles occurs in people who have had chickenpox and represents a reactivation of the dormant varicella-zoster virus. Herpes zoster oticus, which is caused by the spread of the varicella-zoster virus to facial nerves, is characterized by intense ear pain, a rash around the ear, mouth, face, neck, and scalp, and paralysis of facial nerves. Other symptoms may include hearing loss, vertigo (abnormal sensation of movement), and tinnitus (abnormal sounds). Taste loss in the tongue and dry mouth and eyes may also occur.
Rasmussen Syndrome (Rasmussen Encephalitis)
A rare, chronic inflammatory disease that usually affects only one hemisphere of the brain. It occurs in children under the age of 10 (and more rarely in adolescents and adults), and is characterized by frequent and severe seizures, loss of motor skills and speech, paralysis on one side of the body (hemiparlesis), inflammation of the brain (encephalitis), and mental deterioration. Most individuals with Rasmussen’s encephalitis will experience frequent seizures and brain damage over the course of the first 8 to 12 months, and then enter a phase of permanent, but stable, neurological deficits. Scientists currently think that Rasmussen’s encephalitis is an autoimmune disease in which immune system cells enter the brain and cause inflammation and damage.
A childhood neuro developmental disorder that affects females almost exclusively. The child generally appears to grow and develop normally, before symptoms begin. Loss of muscle tone is usually the first symptom. Other early symptoms may include a slowing of development, problems crawling or walking, and diminished eye contact. As the syndrome progresses, a child will lose purposeful use of her hands and the ability to speak. Compulsive hand movements such as wringing and washing follow the loss of functional use of the hands. The inability to perform motor functions is perhaps the most severely disabling feature of Rett Syndrome, interfering with every body movement, including eye gaze and speech.
Ring Chromosome 20 Syndrome
Ring chromosome 20 Syndrome is caused by a chromosomal abnormality known as a Ring Chromosome 20 or Ring(20). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and its broken ends fuse together. People with Ring Chromosome 20 Syndrome have one copy of this abnormal chromosome in some or all of their cells.
It is not well understood how the ring chromosome causes the signs and symptoms of this syndrome. In some affected individuals, genes near the ends of chromosome 20 are deleted when the ring chromosome forms. Researchers suspect that the loss of these genes may be responsible for epilepsy and other health problems. However, other affected individuals do not have gene deletions associated with the ring chromosome. In these people, the ring chromosome may change the activity of certain genes on chromosome 20, or it may be unable to copy (replicate) itself normally during cell division. Researchers are still working to determine the precise relationship between the ring chromosome 20 and the characteristic features of the syndrome. other chromosomal conditions
A neurological disorder indicated at birth by a port-wine stain birthmark on the forehead and upper eyelid of one side of the face. The birthmark can vary in color from light pink to deep purple and is caused by an overabundance of capillaries around the trigeminal nerve just beneath the surface of the face. Sturge-Weber syndrome is also accompanied by abnormal blood vessels on the brain surface and the loss of nerve cells and calcification of underlying tissue in the cerebral cortex of the brain on the same side of the brain as the birthmark. Neurological symptoms include seizures that begin in infancy and may worsen with age. Convulsions usually happen on the side of the body opposite the birthmark and vary in severity. There may be intermittent or permanent muscle weakness on the same side. Some children will have developmental delays and mental retardation; most will have glaucoma (increased pressure within the eye) at birth or developing later. The increased pressure within the eye can cause the eyeball to enlarge and bulge out of its socket (buphthalmos). There is an increased risk for migraine headaches. Sturge-Weber syndrome rarely affects other body organs.
West Syndrome (Infantile Spasm)
An Infantile Spasm (IS) is a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. West Syndrome is characterized by infantile spasms, developmental regression, and a specific pattern on electroencephalography (EEG) testing called hypsarrhythmia (chaotic brain waves). The onset of infantile spasms is usually in the first year of life, typically between 4-8 months. The seizures primarily consist of a sudden bending forward of the body with stiffening of the arms and legs; some children arch their backs as they extend their arms and legs. Spasms tend to occur upon awakening or after feeding, and often occur in clusters of up to 100 spasms at a time. Infants may have dozens of clusters and several hundred spasms per day. Infantile spasms usually stop by age five, but may be replaced by other seizure types. Many underlying disorders, such as birth injury, metabolic disorders, and genetic disorders can give rise to spasms, making it important to identify the underlying cause. In some children, no cause can be found.