Glossary

Abscess
A localized (small) area of pus that formed during inflammation and swelling in body tissues. It is usually caused by bacteria.

ACTH
Adrenocorticotropic hormone (ACTH) is also called corticotropin. It is made by the pituitary gland in the brain, travels to the adrenal glands on top of the kidneys, and causes the adrenal cortex (outer layer of adrenal gland cells) to release steroid hormones, including cortisol.

Adrenal glands
These are ductless glands that lie above the kidneys. The cortex is the outer part of the gland, and the adrenal cortex produces steroid hormones, including cortisol.

Adrenocortical function
The function of the outer layer (cortex) cells of the adrenal gland that lies on top of the kidney. The adrenal cortex makes and releases steroid hormones, including cortisol.

Anaphylaxis
A greatly increased allergic reaction to a foreign substance (that is, something from outside the body) after the body has already been exposed to the substance in the past.

A.S.A.P.
Acthar Support & Access Program. This program helps parents and caregivers of children with IS get Acthar quickly, helps with getting insurance payment for Acthar, and helps uninsured or underinsured families pay for Acthar. A.S.A.P. can be reached at 1-888-435-2284.

Brain imaging
There are three most common methods for imaging (creating detailed pictures) the brain. Computerized axial tomography (CAT or CT scan) is a type of x-ray that uses a computer to put together multiple images, producing a detailed picture of the skull and brain. Magnetic resonance imaging (MRI) is a scan that uses a large magnet instead of x-rays to form a highly detailed image of the brain. Positron emission tomography (PET) is a scan that uses an injection or radioactive tracer to measure brain metabolism, for example, in an effort to locate the seizure focus. This type of brain imaging is often part of the evaluation before surgery.

Central nervous system
The central nervous system includes the brain and the spinal cord.

Child neurologist
A doctor who is skilled at diagnosing and treating neurological needs of children under 18 years of age.

Clusters of spasms
A group or bunch of spasms that happen close together in time.

Colic
Doctors usually diagnose colic when a healthy baby cries harder than expected for more than 3 hours a day for more than 3 days a week for at least 3 weeks in a row. Colic is usually worst when babies are 6 to 8 weeks of age and goes away on its own between 8 and 18 weeks of age. When they are crying, babies with colic may clench their fists and stiffen their stomach and legs. Some babies arch their back and others pull up their legs to their stomach.

Convulsion
A seizure characterized by stiffening of the body and jerking, excess salivation (foaming at the mouth), and loss of control of urine, followed by a period of confusion.

Corticosteroids
The steroid hormones that are made and released by the adrenal cortex, a gland that lies on top of the kidney. These hormones affect metabolism, gonad function, and the immune system. Corticosteroids are used to treat inflammation and allergic diseases.

Corticotropin releasing hormone (CRH)
CRH is a hormone made by the hypothalamus that stimulates the pituitary gland to release corticotropin (ACTH).

Cortisol
One of several steroid hormones made by the outer cells of the adrenal gland (the adrenal cortex). Cortisol is important in carbohydrate and protein metabolism and has powerful anti-inflammatory effects. Cortisol levels may increase after physical or psychological stress.

Cryptogenic IS
In this type of IS, no cause can be found. In these children, development appears normal before spasms begin.

Cushing's syndrome
A condition characterized by upper body fat, rounded face, and thin skin.

Diuretic
A medicine or substance that leads to an increase in the amount of urine.

Down syndrome
A genetic disorder involving an extra copy of chromosome 21. Mild to severe mental retardation and weak muscle tone occur.

Electroencephalogram (EEG)
A tracing of brain waves, used to search for epileptic spikes and abnormal slowing.

Electrolyte disturbance
An imbalance of certain ionized salts (for example, sodium, potassium, calcium, magnesium, chloride, phosphate, or bicarbonate) in the blood. The imbalance can usually be found using a blood test and then treated.

Encephalitis
Inflammation of the brain.

Genetic testing
Testing to identify the presence of certain genes or problems with certain genes that identify the presence of some disease (or future onset of some disease).

Glucose intolerance
Blood glucose is the main sugar found in the blood and the body’s main source of energy. Glucose intolerance is a condition where the body has higher than normal blood sugar levels, but not high enough to be diagnosed as diabetes.

Herpes simplex virus
A herpes virus that affects the skin and nervous system. Watery blisters on the skin or mucous membranes occur.

Hirsutism
Greater than normal growth of hair; excessive hairiness.

Hormone
A chemical substance produced in the body that controls the activity of certain cells or organs. There are many different types of hormones in the body, and hormones are needed for every activity of daily living.

Hypertension
High blood pressure

Hypoglycemia
Abnormally low level of glucose (sugar) in the blood.

Hypothalamus
This is an area of the brain that controls body temperature, hunger, and thirst. The hypothalamus releases hormones.

Hypsarrhythmia
Specific patterns of irregular high-amplitude slow waves and spikes on the electroencephalogram seen in infantile spasms/West syndrome.

Immune system
The system within the body that protects the body from foreign substances.

Inflammation
Redness, swelling, pain, tenderness, and heat that is a reaction of body tissues to injury or infection.

Infantile spasms
A type of epilepsy in infants characterized by abrupt spasms of the body that usually occur in clusters, mental retardation, and the recognizable pattern on the electroencephalograph called hypsarrhythmia. Also known as West syndrome.

Intraocular
Within the eyeball.

Meningitis
Inflammation of the membranes that surround the brain or spinal cord that is caused by infection.

Metabolic testing
Inherited (genetic) metabolic diseases, also called inborn errors of metabolism, can be identified using laboratory testing. The type of metabolic test done depends on the possible metabolic disease being tested. Early diagnosis, using metabolic testing in infancy, and treatment may improve outcomes.

Miller-Dieker syndrome
A rare genetic disorder with severe abnormalities in brain development.

Mitochondrial disease
A group of neuromuscular diseases caused by damage to the mitochondria (small, energy-producing structures within the cells of the body that serve as the ‘power plants’ of the cell). Nerve cells in the brain and muscles are damaged. Symptoms may include developmental delays, mental retardation, seizures, muscle weakness, heart and kidney disease, and breathing problems.

Neurofibromatosis
A genetic disorder that results in flat brown patches on the skin, neurofibromas (benign tumors) of the nervous system, and in some cases skeletal deformity.

Neurologist
A doctor who is skilled at diagnosing and treating diseases related to the nervous system.

Osteoporosis
Loss of calcium from the bone leads to increased porosity (larger spaces within the bones) and brittleness of the bones. May lead to pain, decreased height, or increased risk for bone fractures.

Palpitations
An unusually or abnormally rapid or irregular beating of the heart.

Pancreatitis
Inflammation of the pancreas. The pancreas is part of the digestive system. It releases hormones into the bloodstream and digestive enzymes into the small intestine.

Pediatric neurologist
A doctor who is skilled at diagnosing neurological needs of children under 18 years of age.

Peptic ulcer
An ulcer (a sore, breakdown of tissue, and pus) in the wall of the stomach or duodenum (the first part of the small intestine that connects with the stomach) that is caused by gastric juice on the mucous membrane of the stomach or duodenum.

Phenylketonuria
An inherited (genetic) metabolic disorder caused by an enzyme deficiency. There is a buildup of phenylalanine and its breakdown products in the blood. If phenylalanine is not removed from the diet at birth, the disorder results in severe mental retardation and seizures.

Physiological
Related to normal healthful functioning of the body; not abnormal or pathological.

Pituitary gland
A small gland in the head that releases several different hormones.

Posterior subcapsular cataracts
A cataract is a painless, cloudy area in the lens of the eye that blocks the passing of light to the retina at the back of the eye. Posterior subcapsular cataracts usually form near the back of the lens, right in the path of light on its way to the retina. This can cause vision problems. In children, the earlier the cataracts are diagnosed and treated, the more likely it is that vision will develop normally.

Psychotic
Psychosis is a serious mental disorder involving a loss of contact with reality and impaired social functioning. Psychosis often involves disorganized thoughts, hallucinations (a sensory experience of something that does not exist, for example, seeing or hearing something that is not there) or delusions (a false belief that is strongly held even when the facts do not support it).

Scleroderma
An autoimmune disease that involves hardening in the skin, blood vessels, muscles, and sometimes internal organs.

Symptomatic IS
In this type of IS, a cause of IS is found. Usually development does not appear normal before spasms begin in these children.

Spasms
A type of seizure that occurs in infants with infantile spasms/West syndrome, characterized by frequent jerks of the body.

Steroid
Steroids are natural or synthetic organic compounds that include hormones, various compounds in the body, and drugs. Examples of steroids include cholesterol, sex hormones such as estrogen and testosterone, drugs such as digitalis or dexamethasone, and certain vitamins such as vitamin D.

Tachycardia
An abnormally rapid heartbeat.

Tuberous sclerosis
An inherited disorder, typically with mental retardation, abnormalities of the brain, skin, and other organs, and seizures. Half of these patients will have infantile spasms.

Ulcerative esophagitis
The esophagus is the tube that leads from the back of the mouth to the stomach. Esophagitis is the inflammation, irritation, or swelling of the esophagus. Esophagitis may be caused by the backflow of acid-containing fluid from the stomach to the esophagus or from infection of the esophagus. Ulcers (a sore, breakdown of tissue, and pus) may form in the inflamed esophagus, leading to ulcerative esophagitis.

Vertigo
A dizzy feeling. A feeling of turning or spinning around.

West syndrome
A type of epilepsy in infants characterized by abrupt spasms of the body that usually occur in clusters, mental retardation, and the recognizable pattern on the electroencephalograph called hypsarrhythmia. Also known as infantile spasms.