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Congenital Heart Defects
What is congenital heart disease?
Congenital heart disease is a heart condition you are born with. The word congenital means “present at birth.” Congenital heart disease can range from very minor conditions which never cause problems, to more serious conditions that require treatment.
A congenital heart defect happens when the chambers, walls or valves of your heart – or the blood vessels near the heart – don’t develop normally before birth. There are many different types of defects listed below.
1. Holes in the heart (septal defects)
When a baby is born with an abnormal opening in the wall that separates the right and left chambers of the heart (the septum), blood can leak between the chambers instead of flowing normally to the rest of the body. This may cause the heart to become enlarged.
The most common holes in the heart are:
- Atrial septal defect (ASD) Normally, oxygen-rich blood that’s already been to the lungs flows from the left atrium to the left ventricle, out the aorta and to the body. An abnormal opening between the right and left atria (the upper chambers of the heart) allows some blood from the left atrium to leak back into the right atrium. Your heart has to work extra hard to move the extra blood out to the lungs. The seriousness of the problem depends on the size of the opening.
Patent foramen ovale (PFO) is one type of atrial septal defect. The hole between the left and right atria usually closes within the first few years of life. Even if it doesn’t close, the hole may not cause any complications unless you have a second heart defect. PFOs are very common and many people will never know they have one.
- Ventricular septal defect (VSD) If there is a hole between your right and left ventricles, oxygen-rich blood returning from your lungs leaks from the left ventricle into the right ventricle instead of being pumped into the aorta and out to the rest of your body. Depending on the size of the opening, you may need surgery to close the hole.
2. Obstruction of blood flow
Stenosis is a narrowing or obstruction in heart valves, arteries or veins that affects the flow of blood. Atresia is when a passageway in the body is abnormally shut or has not formed properly. Different types of stenosis and atresia can partly or completely block blood flow in the heart.
- Pulmonary valve stenosis If your pulmonary valve narrows, the flow of oxygen-poor blood from the right ventricle through the pulmonary arteries to your lungs is restricted. This interferes with the blood’s ability to pick up oxygen and deliver it to the rest of your body. The right ventricle has to work harder to pump blood through the narrowed pulmonary valve and the pressure in the heart is often increased.
- Pulmonary atresia The pulmonary valve lets blood flow from the right ventricle to the lungs via the pulmonary artery. In pulmonary atresia, the pulmonary valve does not form properly and it remains closed at birth. Blood is not able to flow properly to the lungs to get oxygenated. If left untreated, this condition is fatal. Visit About Kid’s Health to learn more.
- Tricuspid atresia The tricuspid valve controls blood flow between the right atrium and the right ventricle. In tricuspid atresia, the valve does not form properly and there is no opening between these two chambers. Blood is not able to flow from the right atrium into the right ventricle and then onto the lungs, to get oxygenated. If left untreated, this condition is fatal. Visit About Kid’s Health to learn more.
- Aortic stenosis When the aortic valve narrows, blood flow is restricted from the heart through the main artery to your body (aorta) and onwards to the rest of the body. As a result, the left ventricle has to contract harder to push blood across the aortic valve. This eventually weakens the heart muscle and makes your heart less efficient. Surgery may be necessary. Aortic stenosis can be treated, but life-long follow-up will be needed.
- Coarctation of the aorta This is the narrowing of the largest artery in the body. When the aorta is pinched or constricted, the flow of blood to the lower part of the body is reduced and blood pressure above the constriction is increased. The heart is forced to pump harder in order to deliver enough blood to the rest of your body. Coarctation of the aorta can range from mild to severe. It usually occurs with other heart defects. The condition can be treated, but life-long follow-up will be needed.
- Patent ductus arteriosus The ductus arteriosus is a passageway for blood between the aorta and pulmonary artery that normally closes a few days after birth. If it fails to close properly, too much blood flows to the lungs. The condition is common in premature babies, but rare in full-term babies. How serious it is depends on how large the opening is and how premature the baby is. In some circumstances an open ductus is necessary for survival – where blood flow is blocked, or if the blood vessels supplying the lungs and body are switched (transposition of the great arteries).
Medication in the first few weeks of life can either close (or keep open) the ductus arteriosus. As your baby gets older and if the medication isn’t working, the ductus can be closed off using a cardiac catheterization procedure. This will restore normal circulation.
- Blue babies (cyanotic defects) When blood that is pumped from the lungs and heart to the body contains less-than-normal amounts of oxygen, it causes a blue discoloration of the skin, lips, gums, nail beds, and the areas around the eyes and mouth (cyanosis). There are several different conditions that can lead to a blue baby.
- Tetralogy of fallot is a combination of four defects that make the level of oxygen in the blood too low:
- A large hole in the wall between the two ventricles allows some oxygen-rich blood to be pumped to the right side of the heart instead of to the rest of the body through the aorta. (See ventricular septal defect above.)
- A narrowing of the pulmonary valve can block the flow of blood from the right side of the heart to the lungs. (See pulmonary valve stenosis above.)
- A more-muscular-than-normal right ventricle can cause the heart muscle to become stiff over time, eventually making the heart weak (right ventricular hypertrophy).
- An aorta that lies directly over the right ventricle allows a mixture of oxygen-rich and oxygen-poor blood to flow into the aorta (overriding aorta).
- Transposition of the great arteries In this condition, your baby’s pulmonary artery and the aorta are reversed. Their aorta is connected to the right ventricle, so most of the blood returning to the heart from the body is pumped back out to their body without first getting oxygen from the lungs. The pulmonary artery is connected to the left ventricle, so that most of the oxygen-rich blood returning from their lungs goes back to the lungs again. The condition is often detected during the first week of life and can be corrected with surgery during your baby’s first month.
Other defects between the right and left sides of the heart often co-exist with transposition of the great arteries. An atrial septal defect, ventricular septal defect or ductus arteriosus can actually help oxygenated blood circulate to the body.
- Ebstein’s anomaly The tricuspid valve controls blood flow between the right atrium and the right ventricle. Ebstein’s anomaly is a rare condition in which the tricuspid valve is located lower than normal and has abnormal flaps (leaflets). This can cause blood to leak backwards through the valve and prevent the heart from working efficiently. This causes the ventricle to be too small and the atrium to be too large. Many children with Ebstein’s anomaly have mild cases that don’t cause symptoms. If your child’s tricuspid valve is leaking badly, heart valve surgery may be necessary.
- Tetralogy of fallot is a combination of four defects that make the level of oxygen in the blood too low:
- Hypoplastic left heart syndrome Children born with this syndrome have an underdeveloped left side of their heart.
- The left ventricle is underdeveloped and too small.
- The mitral valve is not formed or too small.
- The aortic valve is not formed or too small.
- A part of the aorta (the ascending aorta) is underdeveloped or too small.
Children with this condition often have an atrial septal defect as well (see above).
- Information taken from https://www.heartandstroke.ca/heart/conditions/congenital-heart-disease
Crohn’s and Colitis
WHAT ARE CROHN’S AND COLITIS?
Inflammatory bowel disease (IBD) describes a group of conditions, the two main forms of which are Crohn’s disease and ulcerative colitis. IBD also includes indeterminate colitis.
Crohn’s disease and ulcerative colitis are diseases that inflame the lining of the GI (gastrointestinal) tract and disrupt your body’s ability to digest food, absorb nutrition, and eliminate waste in a healthy manner.
Below you fill find more information about the anatomy and function of the gastrointestinal (GI) tract, Crohn’s disease and ulcerative colitis.
Dr. Mike Evans is founder of the Health Design Lab at the Li Ka Shing Knowledge Institute, an Associate Professor of Family Medicine and Public Health at the University of Toronto, and a staff physician at St. Michael’s Hospital. This video was made possible through the Gastrointestinal Society, with the support of Crohn’s and Colitis Canada.
ANATOMY AND FUNCTION OF THE GI TRACT
In order to understand Crohn’s disease and ulcerative colitis, it is first helpful to understand the anatomy and function of the healthy gastrointestinal (GI) tract. Below is a medical illustration of the GI tract. When you eat, food travels through the GI tract in the following order:
Mouth [ 1 ]
Esophagus [ 2 ] (tube that connects the mouth to the stomach)
Stomach [ 3 ] (food is mixed with stomach acid and enzymes to break down the material into smaller pieces called chyme)
Small Bowel [ 4 ] (or the ‘Small Intestine’) is made up of three sections: Duodenum [ 7 ] (about 8 cm in length); Jejunum [ 8 ] (around 3 metres long); and Ileum [ 9 ] (about 3 metres in length).
The functions of the small bowel are to digest your food and absorb the nutrients. In particular, the jejunum and ileum are the organs responsible for absorbing nutrients from your food. Without the small bowel, we would not be able to convert food into useable nutrition.
Ileocecal Valve [ 5 ] (regulates the amount of material passed from the small bowel to the large bowel and prevents “dumping” all at once)
Large Bowel [ 6 ] (also called the Large Intestine or the Colon). The colon is much wider in diameter than the small bowel and is approximately 1.5 metres long. The different sections of the colon are identified as the:
- Cecum [ 10 ] and appendix [ 11 ]
- Ascending colon
- Hepatic flexure (a bend in the gut at close to the location of the liver)
- Transverse colon
- Splenic flexure (another bend located near the spleen)
- Descending colon
- Sigmoid colon
- Rectum [ 12 ]
- Anus [ 13 ]
The main functions of the colon are to extract water and salt from stool, and store it until it can be expelled via the anus.
Stool is the by-product of digestion through the GI tract. When stool first enters the colon from the small bowel, it is very watery. As it traverses the large bowel, water is reabsorbed and the stool gradually becomes firmer.
In a healthy individual, it is usually composed of water, dead and living bacteria, fiber (undigested food), intestinal mucous, and sloughed-off lining of the gut. It is not normal to have blood in feces, nor large amounts of mucous. Stool from an individual without any gut disease is soft enough to pass comfortably from the rectum and anus, and (depending on the person) is typically expelled one or two times a day.
Bowel movements are an entirely different matter for someone with Crohn’s or colitis. Individuals with these diseases face some very real challenges related to feelings of urgency, diarrhea, and bloody stool.
WHAT IS CROHN’S DISEASE
Crohn’s disease is named after the doctor who first described it in 1932 (also known as ‘Crohn disease’).
Inflammation from Crohn’s can strike anywhere in the gastrointestinal (GI) tract, from mouth to anus, but is usually located in the lower part of the small bowel and the upper colon.
Patches of inflammation are interspersed between healthy portions of the gut, and can penetrate the intestinal layers from inner to outer lining.
Crohn’s can also affect the mesentery, which is the network of tissue that holds the small bowel to the abdomen and contains the main intestinal blood vessels and lymph glands.
WHAT IS ULCERATIVE COLITIS
Ulcerative colitis is more localized in nature than Crohn’s disease. Typically, the disease affects the colon (large intestine) including the rectum and anus, and only invades (inflames) the inner lining of bowel tissue.
It almost always starts at the rectum, extending upwards in a continuous manner through the colon. Colitis can be controlled with medication and in severe cases can even be treated through the surgical removal of the entire large intestine.
WHAT IS INDETERMINATE COLITIS:
Indeterminate colitis is a term used when it is unclear if the inflammation is due to Crohn’s disease or ulcerative colitis.
SYMPTOMS OF CROHN’S DISEASE AND ULCERATIVE COLITIS
Crohn’s disease and ulcerative colitis are (lifelong) diseases. People with these diseases experience acute periods of active symptoms (active disease or flare), and other times when their symptoms are absent (remission).
Symptoms can include abdominal pain and cramping; severe diarreha; rectal bleeding; blood in stool; weight loss and diminished appetite.
Visit our Signs and Symptoms page for more information.
COMPARING CROHN’S DISEASE AND ULCERATIVE COLITIS
There are similarities and differences between Crohn’s disease and ulcerative colitis. We’ve already described above how Crohn’s disease and ulcerative colitis involve different areas of the gastrointestinal tract.
Other characteristics of Crohn’s disease and ulcerative colitis that may differ include: symptoms; the effect of surgery; treatment options; complications or extra-intestinal manifestations; and impact of smoking.
These characteristics are summarized in the table below:
| Crohn’s Disease | Ulcerative Colitis | |
|---|---|---|
| Occurrence | More females than males All ages, peak onset 15-35 years |
Similar for females and males All ages, usual onset 15-45 years |
| Symptoms | Diarrhea, fever, sores in the mouth and around the anus, abdominal pain and cramps, anemia, fatigue, loss of appetite, weight loss | Bloody diarrhea, mild fever, abdominal pain and cramps, anemia, fatigue, loss of appetite, weight loss |
| Terminal ileum involvement | Common | Never |
| Colon involvement | Common | Always |
| Rectum involvement | Common | Always |
| Peri-anal disease | Common | Never |
| Distribution of disease | Patchy areas of inflammation | Continuous areas of inflammation but can be patchy once treated |
| Endoscopic findings | Deep and snake-like ulcers | Diffuse ulceration |
| Depth of inflammation | May be transmural, extending through the entire thickness of the wall of an organ or cavity deep into tissues | Shallow, mucosal |
| Fistulas between organs | Common | Never |
| Stenosis | Common | Never |
| Granulomas on biopsy | Common | Never |
| Effect of surgery | Often return following removal of affected parts. Decreased likelihood of pregnancy. | Usually cured by removal of colon (colectomy). Decreased likelihood of pregnancy after ileoanal pouch. |
| Treatment options | Drug treatment (corticosteroids, immune modifiers, biologic therapies). Exclusive formula diet in children. Surgery (repair fistulas, remove obstruction, resection, and anastomosis). | Drug treatment (5-aminosalicylates, sulfasalazine, corticosteroids, immune modifiers, biologic therapies). Surgery (rectum/colon removal) with creation of an internal pouch (ileoanal pouch). |
| Cure | No existing cures. Maintenance therapy is used to reduce the chance of relapse. | Through colectomy only. Maintenance therapy is used to reduce the chance of relapse. |
| Bowel complications | Blockage of intestine due to swelling or formation of scar tissue. Abscesses, sores, or fistulas. Malnutrition. Colon cancer. | Bleeding from ulcerations. Perforation (rupture) of the bowel. Malnutrition. Colon cancer. |
| Extra-intestinal disease | Osteoporosis. Liver inflammation (primary sclerosing cholangitis). Blood clots. Pain and swelling in the joints (arthritis). Growth failure (in children). Mental Illness. | Liver inflammation (primary sclerosing cholangitis). Blood clots. Eye inflammation (iritis). Pain and swelling in the joints (arthritis). Mental illness. |
| Smoking | Higher risk of acquiring for smokers | Higher risk of acquiring for ex-smokers |
| Mortality risk | Increased risk of colorectal cancer and overall mortality. Increased risk of lymphoma and skin cancer (due to treatments). | Increased risk of colorectal cancer. Uncertain change in mortality risk. Increased risk of lymphoma and skin cancer (due to treatments). |
Image reference. Impact of Inflammatory Bowel Disease in Canada. 2018.
Information taken from https://crohnsandcolitis.ca/About-Crohn-s-Colitis/What-are-Crohns-and-Colitis
Cleidocranial dysplasia (CCD)
What is cleidocranial dysplasia (CCD)?
Cleidocranial dysplasia (say: clie-doh-CRAY-nee-ul diss-PLAY-zee-a) is a genetic condition that mainly affects:
- the development of bones (particularly the skull and collarbones)
- the teeth
How cleidocranial dysplasia affects the body
The symptoms of CCD vary considerably from one person with CCD to another. This is true even of people in the same family who have CCD.
CCD is very rare and occurs in one in one million children worldwide. Both boys and girls can have CCD.
Bone problems
CCD is a disorder of bone development. The various problems of bone development include:
- the spaces between the bones of the skull (fontanelles) take longer than expected to close. In a small percentage of people, the fontanelles may not close completely during their lifetime.
- partly or completely missing collarbones, which can lead to a narrow chest with sloping shoulders
- osteoporosis (lower bone density)
- narrow pelvis and/or abnormal shape of the pelvic bones
- shorter stature (height)
Dental problems
People with CCD lose their primary teeth (baby teeth) and get their secondary teeth (adult teeth) late. This causes overcrowding of teeth and mal-alignment of the jaw.
Height and body shape
People with CCD can be shorter in height. The final height of boys is about six inches shorter than expected. For girls, the final height is about three inches shorter.
People with CCD are more likely to have other changes in their bones like:
- short, tapered fingers and broad thumbs
- flat feet
- knocking knees
Osteoporosis
People with CCD have a higher chance to develop osteoporosis (low bone density). The bone density is measured by a special test called a DEXA scan.
Medical problems
People with CCD often have recurrent chest, sinus and ear infections. Repeated ear infections may cause hearing loss.
Caesarean section
Women with CCD are more likely to need a Caesarean section to give birth because they have a narrow pelvis and/or abnormally shaped pelvic bones.
Information taken from https://www.aboutkidshealth.ca/Article?contentid=879&language=English
Kawasaki Disease
What is Kawasaki disease?
Kawasaki disease causes inflammation or swelling of the blood vessels. Kawasaki disease can affect any medium-sized artery in the body but primarily affects the coronary arteries. The coronary arteries are special blood vessels that carry blood and oxygen into the heart muscle. If there is a problem with the coronary arteries, the heart will not get enough blood and oxygen, making it unable to work properly.
An inflammatory disease that, among other things, affects blood vessels in the body, particularly the coronary arteries.
Diagnosis of Kawasaki disease
The diagnosis of Kawasaki disease is made when a child has at least five consecutive days of fever and at least four out of the other five symptoms mentioned above. In some cases, a child will have fewer than four symptoms. Kawasaki disease often mimics other diseases such as common childhood infections. These factors make the diagnosis of Kawasaki disease more difficult.
Kawasaki disease is a rare illness. It usually affects children under the age of five, but older children can also be affected.
Information taken from: https://www.aboutkidshealth.ca/Article?contentid=915&language=English
Hyrdrocephalus
Understanding Hydrocephalus in Youth
Your brain contains billions of cells and is the control centre of your mind and body. It is protected by your skull, cushiony membranes, and an essential liquid called cerebrospinal fluid, or CSF.
We all need CSF. It delivers important nutrients and chemicals from the blood to the brain, removes waste products from the brain, and protects this complex, essential organ.
CSF is continuously produced inside four ventricles, or chambers, in the brain. Normally, CSF flows freely from one ventricle to the next before it exits the brain. However, when the flow of CSF is interrupted or blocked, or too much CSF accumulates, this causes the ventricles to swell. That puts pressure on the brain and can cause serious damage. This excess accumulation of CSF is called hydrocephalus.
Because it affects the brain, hydrocephalus can cause a wide range of symptoms ranging from difficulty breathing, poor muscle coordination and mobility challenges to problems with vision, fatigue, headaches, seizures, incontinence and hormonal imbalances. Challenges with learning, social skills, memory and problem solving are among the most common complications of hydrocephalus. Individuals with the condition may require modifications to the way they are taught, especially when it comes to learning new things at school or work.
Information taken from http://mybrainwaves.ca/hydrocephalus-in-youth/#understanding-hydrocephalus-in-youth
Spina Bifida
Spina Bifida literally means “split spine.” Spina Bifida happens when a baby is in the womb and the spinal column does not close all of the way. This happens within the first four weeks of pregnancy. About 120 children are born with spina bifida every year in Canada.
Children born with spina bifida can have impairments of the spinal cord only or also the brain ( depending on the type of spina bifida). With research and advances in medical technology, 90% of the babies survive and become adults!
The three most common types of spina bifida are:
- Myelomeningocele (my’-low-meh-nin’-go-seal): This is the form in which the spinal cord and its protective covering, the meninges, protrude from the opening in the spine.
- Meningocele (meh-nin’-go-seal): The spinal cord develops normally, but only the meninges protrudes from the opening created by damaged or missing vertebrae and may be exposed.
- Occulta (oh-kul’-tah): Occulta, which means “hidden”, indicates that the defect, where one or more vertebrae are malformed, is covered by a layer of skin.
- Information taken from https://www.canchild.ca/en/diagnoses/spina-bifida
Epilepsy
Types of Epileptic Seizures
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The International League Against Epilepsy has developed new terms to describe and classify seizures. This was done to make the names more accurate, less confusing to the public, and more descriptive of what actually happens. The new terms consider these important areas when describing seizures.
The onset of a seizure:
Where seizures start in the brain tells a lot about what may occur during a seizure, what other conditions or symptoms may be seen, how they may affect someone and, most importantly, what treatment may be best for that seizure type. When we don’t know the onset of a seizure, the wrong treatment may be used. Or a person may not be offered a treatment that has the best chance of helping. A person’s level of awareness during a seizure: Whether a person is aware or not tells a lot about the type of seizure. It’s also very important to know for a person’s safety.Whether movements happen during a seizure: Seizures can also be described by whether motor symptoms occur. When no motor symptoms happen, it can be called a non-motor seizure. This level of description does not need to be used all the time, especially when generally describing or talking about seizures. Yet other times you may find the motor terms helpful. |
How are seizures now classified?
There are now three major groups of seizures.
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Generalized Onset Seizures:
These seizures affect both sides of the brain or groups of cells on both sides of the brain at the same time. This term was used before and still includes seizures types like tonic-clonic, absence, or atonic, to name a few.
Focal Onset Seizures:
The term focal is used instead of partial to be more accurate when talking about where seizures begin. Focal seizures can start in one area or group of cells in one side of the brain.
These seizures affect both sides of the brain or groups of cells on both sides of the brain at the same time. This term was used before and still includes seizures types like tonic-clonic, absence, or atonic, to name a few.
Focal Onset Seizures:
The term focal is used instead of partial to be more accurate when talking about where seizures begin. Focal seizures can start in one area or group of cells in one side of the brain.
- Focal Onset Aware Seizures: When a person is awake and aware during a seizure, it’s called a focal aware seizure. This used to be called a simple partial seizure.
- Focal Onset Impaired Awareness: When a person is confused or their awareness is affected in some way during a focal seizure, it’s called a focal impaired awareness seizure. This used to be called a complex partial seizure.
Unknown Onset Seizures:
When the beginning of a seizure is not known, it’s now called an unknown onset seizure. A seizure could also be called an unknown onset if it’s not witnessed or seen by anyone, for example when seizures happen at night or in a person who lives alone.
As more information is learned, an unknown onset seizure may later be diagnosed as a focal or generalized seizure.
How are different symptoms during a seizure described?
Many different symptoms happen during a seizure. This new classification separates them simply into groups that involve movement.
For generalized onset seizures:
Motor symptoms may include sustained rhythmical jerking movements (clonic), muscles becoming weak or limp (atonic), muscles becoming tense or rigid (tonic), brief muscle twitching (myoclonus), or epileptic spasms (body flexes and extends repeatedly).
Non-motor symptoms are usually called absence seizures. These can be typical or atypical absence seizures (staring spells). Absence seizures can also have brief twitches (myoclonus) that can affect a specific part of the body or just the eyelids.
For focal onset seizures:
Motor symptoms may also include jerking (clonic), muscles becoming limp or weak (atonic), tense or rigid muscles (tonic), brief muscle twitching (myoclonus), or epileptic spasms. There may also be automatisms or repeated automatic movements, like clapping or rubbing of hands, lip-smacking or chewing, or running.
Non-motor symptoms: Examples of symptoms that don’t affect movement could be changes in sensation, emotions, thinking or cognition, autonomic functions (such as gastrointestinal sensations, waves of heat or cold, goosebumps, heart racing, etc.), or lack of movement (called behavior arrest).
For unknown onset seizures:
Motor seizures are described as either tonic-clonic or epileptic spasms.
Non-motor seizures usually include a behavior arrest. This means that movement stops – the person may just stare and not make any other movements.
What if I don’t know what type of seizures I or my loved one have?
It’s not unusual that a person doesn’t know the type of seizure they have. Often seizures are diagnosed based on descriptions of what an observer has seen. These descriptions may not be complete. When seizures are difficult to diagnose or seizure medicines are not working to stop seizures, talk to your doctor or treating health-care provider. Seeing an epilepsy specialist or having an evaluation at an epilepsy center can help you explore other treatment options, such as surgery, devices, dietary therapy, new or add-on seizure medications, or a clinical trial.
An appointment with a neurologist or epilepsy specialist may be needed. An MRI (magnetic resonance imaging) scan to look at the brain and EEG (electroencephalogram) tests to record the electrical activity of the brain can be very helpful tools in diagnosing types of seizures and epilepsy properly.
Keep asking questions so you get the right tests and right treatment for your type of seizures and epilepsy.
When a disorder is defined by a characteristic group of features that usually occur together, it is called a syndrome. These features may include symptoms, which are problems that the person will notice. They also may include signs, which are things that the doctor will find during the examination or with laboratory tests. Doctors and other health care professionals often use syndromes to describe a person’s epilepsy.
Information taken from https://www.epilepsy.ca/seizures.html
Lyme Disease