Category Archives: Diseases Treatment

Chilblains (CHILL-blayns) OVERVIEW _CAUSES AND TREATMENT

Overview – Chilblains
Chilblains (CHILL-blayns) are the painful inflammation of small blood vessels in your skin that occur in response to repeated exposure to cold but not freezing air. Also known as pernio, chilblains can cause itching, red patches, swelling and blistering on your hands and feet.

Chilblains usually clear up within one to three weeks, especially if the weather gets warmer. You may have recurrences seasonally for years. Treatment involves protecting yourself from the cold and using lotions to ease the symptoms. Chilblains don’t usually result in permanent injury. But the condition can lead to infection, which may cause severe damage if left untreated. The best approach to chilblains is to avoid developing them by limiting your exposure to cold, dressing warmly and covering exposed skin.

Pathophysiology
The pathophysiology and pathogenesis of pernio remain still largely unknown due to the rarity of the condition. However, the thinking is that there is some association with vasospasm as the primary pathophysiologic finding, particularly when the patient becomes exposed to cold, damp conditions for a prolonged period. In a small study by the Mayo Clinic, researchers exposed five patients with known pernio to ice-water immersions and analyzed the patients’ vascular response. They found that all of the patients demonstrated vasospasm when exposed to the ice water bath, potentially discovering a target for pharmacologic therapy in patients with pernio.

What causes chilblains?
Chilblains are the result of an abnormal reaction to the cold. They’re common in the UK because damp, cold weather is usually in the winter.

Some people develop chilblains that last for several months every winter.

When the skin is cold, blood vessels near its surface get narrower. If the skin is then exposed to heat, the blood vessels become wider.

If this happens too quickly, blood vessels near the surface of the skin can’t always handle the increased blood flow.

This can cause blood to leak into the surrounding tissue, which may cause the swelling and itchiness associated with chilblains.

Risk factors of Chilblains
Some people are more at risk of chilblains than others.

This includes people with:

Poor circulation
A family history of chilblains
Regular exposure to cold, damp or draughty conditions
A poor diet or low body weight
Lupus – a long-term condition that causes swelling in the body’s tissues
Raynaud’s phenomenon – a common condition that affects the blood supply to certain parts of the body, usually the fingers and toes
People who smoke are more at risk of chilblains as nicotine constricts blood vessels.

Chilblains can also occur on areas of the feet exposed to pressure, such as a bunion or a toe that’s squeezed by tight shoes.

What are the symptoms of chilblains?
Chilblains occur several hours after being exposed to the cold. You may get just one chilblain but often several develop. They may join together to form a larger swollen, red area of skin.

Chilblains are very itchy. A burning sensation is also typical. They are usually red at first but may become purple. Pain and tenderness over the chilblains often develop.

Common places for chilblains to develop are:

Fingers
Toes
Ear lobes
Nose
Cheeks
Heels
Shins
Thighs
Hips
Typically, each chilblain lasts for about seven days and then, gradually, goes away over a week or so. Some people have repeated bouts of chilblains each winter.

Complications of chilblains
If you have severe or recurring chilblains, there’s a small risk of further problems developing, such as:

Infection from blistered or scratched skin
Ulcers forming on the skin
Permanent discolouration of the skin
Scarring of the skin
It’s often possible to avoid these complications by:

Not scratching or rubbing the affected areas of skin
Not directly overheating the chilblains (by using hot water, for example)
You can also help reduce your risk of infection by cleaning any breaks in your skin with antiseptic and covering the area with an antiseptic dressing. The dressing should be changed every other day until the skin heals.

If the skin does become infected, antibiotics may be prescribed to treat the infection.

Differential Diagnosis
The primary disorder that merits consideration when diagnosing pernio is chilblain lupus erythematosus (CHLE). CHLE is a rare dermatology condition often confused with other forms of pernio or vasculitic processes. Due to the implications of familial genetic inheritance and the possible association with systemic lupus erythematosus, a specific diagnosis of chilblains lupus becomes a priority when a patient presents with pernio-like symptoms. CHLE is largely idiopathic, but familial variants are associated with several different genetic mutations, including TREX1, SAMHD1, and STING.

Treatment is often symptomatic with steroids, but literature has shown the possibility for systemic medications such as JAK inhibitors as effective treatments.  While the progression to systemic lupus erythematosus (SLE) is low in CHLE, further workup is the recommended course due to the implications of long-term undiagnosed SLE.

Other conditions, particularly vasospastic conditions, that the clinician should consider in the differential include:

Raynaud phenomenon
Acrocyanosis
Cryoglobulinemia
Cold panniculitis
Treatment and medication
The first line of treatment for chilblains generally includes measures to keep hands and feet warm and dry, such as keeping your indoor environment warm and dry, using gloves and socks, and changing damp gloves and socks when needed.

If your chilblains don’t clear up with these home remedies, your doctor may recommend medication, including:

Nifedipine (Procardia). This type of blood pressure medication treats chilblains by helping to open up blood vessels and improve circulation. Side effects may include flushing, nausea, dizziness and swelling in the hands or feet.
A topical corticosteroid. Applying a corticosteroid cream to chilblains may help the lesions go away.
Lifestyle and home remedies
Chilblains usually clear up in one to three weeks after cold exposure. In the meantime, you can take steps to ease your signs and symptoms, including:

Rewarming affected skin gently, without massaging, rubbing or applying direct heat
Avoiding cold exposure whenever possible
Keeping your affected skin dry and warm, but away from sources of heat
Applying lotion to alleviate itching
Making sure the affected skin is cleaned with an antiseptic and gently bandaged to prevent infection
Avoiding scratching
Quitting smoking, as smoking can constrict your blood vessels and slow wound healing
Preventing chilblains
The following advice may help prevent chilblains:

Stop smoking. Nicotine causes the blood vessels to constrict (get narrower), which can make chilblains worse.
Avoid medicines that may constrict blood vessels, such as caffeine and decongestants.
Keep active. This helps improve your circulation.
Wear warm clothes and insulate your hands, feet, and legs. Wearing long johns, long boots, tights, leg warmers or long socks will help. If you get cold feet in bed, wear a pair of clean socks.
Avoid tight shoes and boots as these can restrict the circulation to toes and feet.
Moisturize your feet regularly. This stops them from drying out and the skin cracking.
In cold weather, eat at least one hot meal during the day. This will help warm your whole body.
Warm your shoes on the radiator before you put them on. Make sure damp shoes are dry before wearing them.
Warm your hands before going outdoors by soaking them in warm water for several minutes and drying them thoroughly. Wear cotton-lined waterproof gloves if necessary.
Turn up the central heating. Try to keep one room in the house warm and avoid drafts.
If you are diabetic, give yourself regular foot checks (or ask someone else to do this). Diabetics may not be able to feel their feet and could have septic chilblains without realising.

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Definition Reflux laryngitis or laryngopharyngeal reflux disease

Definition
Reflux laryngitis or laryngopharyngeal reflux disease also abbreviated LPR. Digestive acid and enzymes flow upward from the stomach through the esophagus to the level of the vocal folds. This is the same process that causes gastroesophageal reflux disease, or GERD, except that otolaryngologists are preoccupied with its effects at the level of the larynx, instead of the esophagus.

Reflux laryngitis
Typical symptoms include hoarseness, a sensation of a lump or excess mucus in your throat, “post-nasal drip,” excessive need to clear your throat, and a non-productive cough. Heartburn is not a necessary symptom to be diagnosed with acid reflux, and about half of all patients that have reflux to the level of the voice box (larynx) do not have heartburn. Some people report waking with irritating cough or burning in their throats.

Normal and Reflux laryngitis
Reflux laryngitis prevalence
Half of the laryngeal complaints referred to ear, nose, and throat (ENT) services are ultimately diagnosed as LPR. A meta-analysis of pH studies reveals reflux in 63% of patients with LPR, compared with 30% in controls and reflux is seven times more frequent in this group. Changes in pH suggesting reflux occur in 50% of patients with hoarseness, 64% with globus, 55% with chronic cough and 35% with dysphagia.

Risk factors of Reflux laryngitis
Patient Risk Factor Clues

Physicians obtain these clues through a complete medical history with a focus on determining whether risk factors for backflow exist. These factors include certain lifestyle habits:

Intake of certain food and drinks
Smoking
Use of certain medications
Levels of patient voice usage in daily life or profession is also an important clue.
Causes of Reflux laryngitis
Reflux is caused by weakness in the muscle at the junction of the esophagus with the stomach. Normally, this muscular valve, or sphincter, functions to keep food and stomach acid from moving upward from the stomach to the esophagus and larynx. This valve opens to allow food into the stomach and closes to keep the stomach’s contents from coming back up.

The backward movement of stomach contents (gastric contents) up into the esophagus is called gastroesophageal reflux. Moreover, any increase in abdominal pressure (such as obesity or tight clothing, which can push acid back from the stomach up the esophagus) or a person with a hiatal hernia will have an increased risk for reflux.

When it causes symptoms or esophageal inflammation it is referred to as gastroesophageal reflux disease (or GERD). When the acid backs up into the voice box (larynx), the condition is referred to as reflux laryngitis.

Stomach acid can cause irritation of the lining of the esophagus, larynx, and throat. This can lead to

erosion of the lining of the esophagus (erosive esophagitis),
Narrowing of the esophagus (stricture),
Chronic hoarseness,
Chronic throat clearing,
Discomfort swallowing food,
Foreign body sensation in the throat,
Asthma or cough,
Spasms of the vocal cords,
Sinusitis, and
Growths on the vocal cords (granulomas).
Rarely, reflux can lead to cancers of the esophagus or larynx.

Reflux laryngitis of symptoms
Erosion of the lining of the esophagus (erosive esophagitis),
Narrowing of the esophagus (stricture),
Chronic hoarseness,
Chronic throat clearing,
Discomfort swallowing food,
Foreign body sensation in the throat,
Asthma or cough
Complications of Reflux laryngitis
In adults, damage to the vocal cords can occur if a person does not receive treatment for LPR.

In the long term, it can lead to:

Lung and breathing disorders
Recurrent pneumonia
Chronic cough
Persistent or repeated laryngitis
Oral cavity disorders
It may also increase the risk of cancer of the larynx.

Diagnosis and test
How is the diagnosis of reflux laryngitis made?

Patient History
A history of symptoms and how the voice fluctuates in relation to eating patterns is key to diagnosing reflux laryngitis.
Symptom Severity scales
The laryngologist may use a questionnaire that asks questions about reflux symptoms in order to determine if the patients’ symptoms are abnormally high, indicating possible reflux.
pH Probe Monitoring
In persistent or severe cases of reflux laryngitis, the patient may be asked to undergo a procedure called a pH probe monitoring. During this procedure, the patient wears a monitoring device that captures the backflow of reflux into the throat area.
Treatment Role of Medical Treatment The first line of treatment for reflux laryngitis involves using medicines that reduce stomach acid secretion. In addition, lifestyle and behavioral modifications, termed reflux precautions, are recommended.
Treatment and medications
Treatment includes:

Antacids neutralize stomach acid and give immediate relief. Popular choices include sodium bicarbonate (Alka Seltzer), calcium carbonate (Tums, Rolaids, Alka-Mints), and aluminum and magnesium antacids (Maalox, Mylanta, Riopan, Gavisconl), all best used 30-60 minutes after each meal and at bedtime.
Try to have your largest meal of the day at noon.
Give the stomach several hours to empty before you go to bed. Try not to eat after your evening meal.
Avoid spicy or fried foods, peppermint, citrus, tomatoes, onions, and chocolate, especially if these foods increase symptoms.
Try eating a diet that is high-protein, high-carbohydrate, and low-fat.
Avoid lying down after you eat. It is often helpful to elevate the head of your bed with wooden blocks under the bedposts to allow gravity to keep the acid in the stomach. Pillows under the head are of negligible benefit.
Avoid alcohol, caffeinated beverages, and tobacco.
Weight loss, if indicated.
Avoid drugs such as nonsteroidal anti-inflammatory drugs (aspirin, ibuprofen, etc.), theophylline (in tea, too), anticholinergics, and calcium channel blockers.
Medications available over the counter or by prescription for reflux also include the acid-blocking drugs (Pepcid, Tagamet, Axid, Zantac), now available without a prescription. Other valuable medications include Propulsid or Reglan which help empty the stomach; the proton pump inhibitors such as Prilosec and Pevacid; and Carafate to increase the resistance of the lining tissue of the stomach to acid.

If conservative therapy fails, a surgical procedure (fundoplication) is done to strengthen the muscle valve (lower esophageal sphincter).

Prevention of Reflux laryngitis
Irritative laryngitis is best prevented by practicing healthy eating habits. The stomach responds to the ingestion of food or liquids by turning on the digestive cycle, with the secretion of hydrochloric acid and digestive enzymes. Normally, when the stomach empties, the secretory cycle slows and the stomach quiets down.
In conditions of stress and with some medications, such as steroids, the stomach may secrete gastric acid even when it is not stimulated by food ingestion.
Large meals with high-fat content will delay gastric emptying. Therefore, to avoid having active acid secretion during sleep, one should avoid food or liquids for two to three hours before retiring.
Drinking fluids during the night increases the risk of reflux because they stimulate the new acid secretion and the fluids can easily come back up during sleep.
Reflux into the esophagus during sleep is less likely to affect the larynx if the position during sleep favors the protection of the larynx.
Elevation of shoulders and neck during sleep will prevent or significantly decrease reflux in many individuals. This is most effectively done by raising the head of the bed several inches or, alternatively, adding a foam rubber wedge-shaped mattress supplement that extends from the waist to the top of the bed.
If precautions against reflux at night are being followed and throat irritation symptoms persist, medication to suppress gastric acid secretion may be necessary.
The trauma of throat-clearing increases the likelihood of persistent laryngeal injury. Therefore, it is important to avoid throat clearing and to substitute swallowing to clear the bothersome throat secretions.

Cat Scratch Disease (CSD); Origin,Definition, History, Causes,Symptons,Diagnosis, Treatment,Prevention

Cat Scratch Disease (CSD): Definition, Risk factors, Symptoms, Treatment and Prevention
Definition
Cat-scratch disease is an infection you can get after a cat scratches, bites, or licks you. It is caused by bacteria in cat saliva. Cats likely get the bacteria from fleas.

Cat-scratch disease is also called cat-scratch fever. It is not a severe illness in healthy people. But it can be a problem for young children or people with weak immune systems. These include people with cancer, diabetes, or acquired immunodeficiency syndrome (AIDS).

 History
Symptoms similar to CSD were first described by Henri Parinaud in 1889, and the clinical syndrome was first described in 1950 by Robert Debré. In 1983, the Warthin-Starry silver stain was used to discover a Gram-negative bacillus which was named Afipia felis in 1991 after it was successfully cultured and isolated. The causative organism of CSD was originally believed to be Afipia felis, but this was disproved by immunological studies in the 1990s demonstrating that cat-scratch fever patients developed antibodies to two other organisms, B. henselae (originally known as Rochalimea henselae before the genera Bartonella and Rochalimea were combined) and B. clarridgeiae, which is a rod-shaped Gram-negative bacterium.

Epidemiology
CSD disease has been reported worldwide; however, the international incidence is unknown. Seroprevalence rates vary greatly throughout the world, ranging from 0.6-37% and reflecting cat populations in each country. The disease is more prevalent in areas with warm humid climates.
In temperate climates, catscratch disease predominantly occurs in autumn and winter; in the tropics, seasonal changes in frequency of the disease are not observed. Sanguinetti-Morelli et al (2011) found that in France, most cases of CSD occurred from September to April, with a peak in April.
At least 2 genotypes of B henselae have been isolated from cats in Europe. B henselae is endemic in Europe, Africa, Australia, and Japan. In Germany, B henselae was the causative agent of head and neck lymphadenopathy in 61 (13.4%) of 454 patients and the most common cause of lymphadenopathy in adults and children.
Risk factors
A number of factors increase the risk of developing cat scratch disease. Not all people with risk factors will get cat scratch disease. Risk factors for cat scratch disease include:
Any type of play with a cat, especially a kitten, that may provoke biting or scratching
Weakened immune status, such as occurs in people who have AIDS (acquired immunodeficiency syndrome), are undergoing cancer treatment, or have had an organ transplant
Causes
Cat-scratch disease is caused by the bacteria Bartonella henselae. The disease is spread through contact with an infected cat (a bite or scratch) or exposure to cat fleas. It also can be spread through contact with cat saliva on broken skin or mucosal surfaces like those in the nose, mouth, and eyes.

Symptoms
The signs and symptoms that follow may include

Fever,
Chills,
Nausea,
Vomiting,
Fatigue,
Loss of appetite,
Headache,
Joint pains,
Sore throat, and
Swelling and tenderness of the lymph nodes (swollen glands).
As the disease progresses, more nodules may develop under the skin at the point of injury.

What Are the Complications from Cat Scratch Fever?
There are a number of possible complications from cat scratch fever.

Encephalopathy

Encephalopathy is a brain disease that can occur when the bacteria responsible for cat scratch fever spread to the brain. In some cases, encephalopathy results in permanent brain damage or death.

Neuroretinitis

Neuroretinitis is an inflammation of the optic nerve and retina in the eye that causes blurred vision. The inflammation can occur when the bacteria responsible for cat scratch fever travels to the eye, causing impaired vision. Vision usually returns to normal after the infection is gone.

Osteomyelitis

Osteomyelitis is a bacterial infection in the bones, which can result in bone damage. In some cases, the bone damage is so severe that amputation is necessary.

Parinaud Oculoglandular Syndrome

Parinaud oculoglandular syndrome is an eye infection that produces symptoms similar to pink eye. Cat scratch fever is one of the most common causes of the syndrome. Parinaud oculoglandular syndrome can be due to Bartonella henselae entering the eye directly, or by the bacteria traveling through the bloodstream to the eye. The syndrome usually responds well to antibiotic treatment. In rare cases, surgery is necessary to remove infected tissues from the eye.

Diagnosis and test
If your doctor believes you may have cat scratch fever, they will perform a physical examination to see if you have an enlarged spleen (an organ above your stomach).
Cat scratch fever is difficult to diagnose from the symptoms alone. Doctors can make an accurate diagnosis by performing an indirect fluorescent antibody (IFA) blood test to see if the Bartonella henselae bacteria are present in your body.
In this test, antibodies that are labeled with dye will attach to existing antibodies of Bartonella (sometimes called anti-antibodies) and “light up” during the test.
Treatment and medications
In most people, cat-scratch disease clears up without treatment. You can take an over-the-counter pain reliever to help relieve pain and discomfort. Ibuprofen (Motrin, Advil) or naproxen (Aleve) can help. Applying heat compresses to the affected area may also help. If a lymph node is very large or painful, your doctor may drain it to help relieve the pain.

Moist Compress

It can be given to a child or the patient to be able to ease the soreness of the nodes.

Lymph node Aspiration

It may only be required when there is a presence of suppuration. The use of aspiration may be considered to be as a therapeutic as well as a diagnostic approach. When a person reports of recurrent pain and pus reaccumulation, there may be a need for repetition of aspiration procedure.

Surgical Excision

It is done especially if the person has already a presence of an enlarge nodule which may be indicated when there is a continuous repetition of aspiration and still fail to relieve the pain that the person reports to have. The physician may suggest excising a persistent granuloma.

Pharmacological Medication
Antibiotics are the medications often given to eradicate the bacteria that cause this disease condition. Antibiotics may vary depending on the individual’s reaction to such. The following are the suggested antibiotics used for persons who have cat scratch disease:

Azithromycin
Rifampin
Ciprofloxacin
Doxycycline
Gentamicin
Erythromycin
Clarithromycin
Sulfamethoxazole
Trimethoprim
Aside from antibiotics, one can take pain relievers such as ibuprofen and acetaminophen. One should take note that, aspirin should be avoided especially with children.

Prevention
Exclusion from childcare, preschool, school or work is not necessary
Avoid cat bites and scratches – do not ‘play rough’ with cats or kittens
Wash cat bites and scratches immediately with soap and running water
Do not allow cats to lick any open wounds
Cover any open wounds with a dressing
Control fleas in your pets even though cat-scratch disease doesn’t seem to be passed to humans by flea bites, there is evidence that it is spread between cats by fleas.

Cauda Equina Syndrome (CES)- Origin,Definition, History, Causes,Symptons,Diagnosis, Treatment,Prevention

Cauda Equina Syndrome (CES)- Symptoms, Treatment and Prevention
Description
Cauda Equina syndrome (CES) is an impaired condition of lumbar plexus, nerve roots, and spinal canal below the termination of the spinal cord. It is a serious, acute neurologic condition. The term cauda equina is referring to the lower end of the spinal cord where the nerve fibres appear like a horse’s tail (in a Latin word ‘Cauda equina’). These nerves leave out from the spinal canal through the tunnel in between each vertebrae. Cauda equina is located behind the lumbar discs of the spinal canal. If this disc is prolapsed or slipped away, the nerves of cauda equina become squashed and trapped. The effects may appear at getting old age. The other names that are called for CES are Compression of Spinal Nerve Roots Syndrome and Spinal Nerve Roots Compression Syndrome.

Pathophysiology
The pathophysiology remains unclear, but it is believed that the damage to the roots of spinal nerves causes cauda equina by direct mechanical compression and ischemia or venous congestion.

Classification
Patient under CES can be classified as follows

Suspected

An individual who doesn’t have any symptoms, but he or she may develop CES.

Incomplete

An individual who with incomplete CES, shows signs as urinary difficulties due to spinal nerve damage, which also includes loss of eagerness to void, unaware straining to empty their bladder, and loss in their urinary sensation. These patients might develop CES.

Retention

An individual shows painless urinary retention and overflow incontinence. The bladder losses it controls due to insensitive involuntary muscles like the sphincter.

Complete

An individual, who completely lost their function of cauda equine, vanished perineal sensation and paralyzed bladder and bowel with a loose anus.

Epidemiology
Cauda equina syndrome is a rare syndrome occurs with prevalence estimated at approximately 1 in 65,000 (range about 33,000 to 100,000). It is, however, been estimated to occur in ~1% (range 0.1-2%) of lumbar disc herniation. No gender, racial, or ethnic preference was observed

Causes
There are various conditions that can cause cauda equine syndrome

Lumbar disc herniation (most commonly in L4/5 and L5/S1)
Lumbar spinal canal stenosis
Spondylolisthesis
Tarlov cysts
Facet joint cysts
Spinal fracture or dislocation
Epidural hematoma
Epidural abscess
Tuberculosis (Pott disease)
Lymphoma
Metastases
Primary CNS malignancies
Aortic dissection
Arteriovenous malformation
Risk factors
Individual with congenital or acquired spinal canal stenosis 3
Earlier lumbar spinal surgery
Penetrating trauma due to stabs and gunshots
Paget disease
Ankylosing spondylitis
Spina bifida
Hemorrhages affecting the spinal cord
Coagulopathy
It does not mean that the risk factors definitely lead to CES, quite it increases the chances of getting this condition when compared to a person without these risk factors.

Symptoms
Symptoms of CES include:

Low back pain
Numbness
Tingling in the buttocks and lower extremities
Sensory loss in both the legs or muscle weakness
Reduction of reflexes
Bowel incontinence causing retain urine and unable to hold it
Sexual dysfunction may suddenly occur
Complications
If the diagnosis and primary treatment are delayed, the following complications may arise such as follows:

Paralysis
Bladder, sexual and bowel dysfunction
Abnormalities in sensory systems
Diagnosis and test
If a person feels the above symptoms, he or she should seek medical advice immediately or visit the emergency department of your nearest hospital. Your doctor may perform some of the diagnosis such as follows:

Doctor may ask about your health history and other symptoms and activity
Physical examination to access your sensations, reflexes, stability, strength, movement and alignment
MRI scan, which uses magnetic fields and computers to produce three-dimensional images of your affected area in the spine
A myelogram – an X-ray of the spinal canal after injection of contrast material – which can pinpoint pressure on the spinal cord or nerves
CT scan
Treatment 
For the patients who with Cauda equina syndrome need surgery to prevent the permanent damage such as paralysis of the leg, loss of bowel and bladder control, sexual function or other problems. The main goal of the surgery is to restore the parts which are dysfunction. Based on the cause, the following surgery may be performed.

Discectomy

 Discectomy is the surgery in which the compressed nerves are removed from the portion of the disc. The window of bone is removed to expose the nerve root and disc by making an incision in the middle of the back by moving the spinal muscle aside. The portion of the ruptured disc compressing the spinal nerves is carefully removed.

Spinal decompression

Spinal decompression for stenosis removes the bone spurs and ligaments compressing the nerves. A small incision is made in the back. The surgeon removes the bone that forms the roof of the spinal canal. Next, soft tissue and bone spurs are removed to create more room for the nerves. Tumors and other lesions can also be removed.

Spinal cord disk compression
Medications
For long-term treatment, your doctor may prescribe drugs such as

Pain relievers after surgery such as oxycodone (OxyContin)
Over-the-counter pain relievers, such as ibuprofen (Advil) or acetaminophen (Tylenol), can be used for daily pain relief.
Corticosteroids are prescribed to reduce the inflammation and swelling around the spine
Hyoscyamine (Levsin), tolterodine (Detrol) and oxybutynin (Ditropan) for better bladder and bowel control
Prevention
Prevention of cauda equina syndrome is focused on early diagnosis by identifying the symptoms described.
While low back pain with leg pain and/or weakness is a common complaint that affects many people, cauda equina syndrome is a rare complication.
Your doctors should be vigilant in identifying these cases. You should familiarise yourself with the signs and symptoms that could suggest possible cauda equina syndrome, including a change in bowel or bladder function and loss of sensation in the groin.
Preventing infections and trauma is much essential to avoid these causes of cauda equina syndrome.

Cerebral palsy (CP); Origin,Definition, History, Causes,Symptons,Diagnosis, Treatment,Prevention

What is Cerebral Palsy?
Cerebral palsy (CP) is a group of disorders that affect a person’s ability to move and maintain balance and posture. CP is the most common motor disability in childhood. Cerebral means having to do with the brain. Palsy means weakness or problems with using the muscles. CP is caused by abnormal brain development or damage to the developing brain that affects a person’s ability to control his or her muscles.

The symptoms of CP vary from person to person. A person with severe CP might need to use special equipment to be able to walk, or might not be able to walk at all and might need lifelong care. A person with mild CP, on the other hand, might walk a little awkwardly, but might not need any special help. CP does not get worse over time, though the exact symptoms can change over a person’s lifetime.

All people with CP have problems with movement and posture. Many also have related conditions such as intellectual disability pdf icon; seizures; problems with vision pdf icon, hearing, or speech; changes in the spine (such as scoliosis); or joint problems (such as contractures).

Types of Cerebral Palsy
Doctors classify CP according to the main type of movement disorder involved. Depending on which areas of the brain are affected, one or more of the following movement disorders can occur:

Stiff muscles (spasticity)
Uncontrollable movements (dyskinesia)
Poor balance and coordination (ataxia)
There are four main types of CP:

Spastic Cerebral Palsy
The most common type of CP is spastic CP. Spastic CP affects about 80% of people with CP. People with spastic CP have increased muscle tone. This means their muscles are stiff and, as a result, their movements can be awkward. Spastic CP usually is described by what parts of the body are affected:

Spastic diplegia/diparesis – In this type of CP, muscle stiffness is mainly in the legs, with the arms less affected or not affected at all. People with spastic diplegia might have difficulty walking because tight hip and leg muscles cause their legs to pull together, turn inward, and cross at the knees (also known as scissoring).
Spastic hemiplegia/hemiparesis – This type of CP affects only one side of a person’s body; usually the arm is more affected than the leg.
Spastic quadriplegia/quadriparesis – Spastic quadriplegia is the most severe form of spastic CP and affects all four limbs, the trunk, and the face. People with spastic quadriparesis usually cannot walk and often have other developmental disabilities such as intellectual disability; seizures; or problems with vision, hearing, or speech.

Dyskinetic Cerebral Palsy
This type also includes athetoid, choreoathetoid, and dystonic cerebral palsies)

People with dyskinetic CP have problems controlling the movement of their hands, arms, feet, and legs, making it difficult to sit and walk. The movements are uncontrollable and can be slow and writhing or rapid and jerky. Sometimes the face and tongue are affected and the person has a hard time sucking, swallowing, and talking. A person with dyskinetic CP has muscle tone that can change (varying from too tight to too loose) not only from day to day but even during a single day.

Ataxic Cerebral Palsy
People with ataxic CP have problems with balance and coordination. They might be unsteady when they walk. They might have a hard time with quick movements or movements that need a lot of control, like writing. They might have a hard time controlling their hands or arms when they reach for something.

Mixed Cerebral Palsy
Some people have symptoms of more than one type of CP. The most common type of mixed CP is spastic-dyskinetic CP.

What Causes Cerebral Palsy (CP)?
Cerebral palsy is a neuromuscular disorder caused by damage to the motor cortex of the developing brain. This affects motor functioning, including an individual’s ability to move, grasp objects and talk.

It can also affect muscle tone, resulting in individuals with overly toned, tight muscles and rigid joints or loose, floppy muscles and joints.

The type and severity of CP symptoms will depend in large part on the extent of the brain injury and when it occurred. There are four primary situations that will lead to cerebral palsy to arise:

Prenatal disturbance of brain cell migration. In the developing fetus, cells differentiate and move into place in order to form the appropriate type of cell. If something disrupts this process, preventing brain cells from migrating and developing properly, a number of neurological conditions can arise.
Prenatal poor myelination of nerve cells. In the body, myelin acts as insulation to protect nerve cells. Inadequate myelin can result in unprotected nerve cells, which can become damaged.
Perinatal brain cell death. During the birthing process, brain cells may die as a result of asphyxia (suffocation) or blood loss. This is most commonly seen in difficult deliveries or periods of fetal distress late in pregnancy necessitating an emergency birth.
Postnatal non-functional or inappropriate synapses. After birth, brain injury can result in brain damage and CP. Some common causes are brain infection, trauma, and asphyxia.
Although not every case of CP is preventable, and the underlying causes of many CP cases are unknown, there are certain risk factors that can increase a child’s odds of developing cerebral palsy:

Premature birth or low birth weight
Fetal distress, including problems with the placenta, umbilical cord, and amniotic fluid
Long and difficult labor during which asphyxiation can occur
Meningitis or other brain infection
Trauma after birth, including accidents that could lead to brain damage
Although the exact cause of an individual’s cerebral palsy is not always uncovered, it’s estimated that between 10 to 15 percent of CP cases arise as a result of medical malpractice. This may include:

Failure to recognize fetal distress during labor and intervene accordingly
Failure to resuscitate a “blue baby” quickly enough after birth
Writing a prescription for a medication unsafe for a pregnant mother
And other issues arising from a failure to provide an adequate standard of care before, during and after birth.
What are the risk factors?
There are some medical conditions or events that can happen during pregnancy and delivery that may increase a baby’s risk of being born with cerebral palsy. These risks include:

Low birthweight and premature birth. Premature babies (born less than 37 weeks into pregnancy) and babies weighing less than 5 ½ pounds at birth have a much higher risk of developing cerebral palsy than full-term, heavier weight babies.  Tiny babies born at very early gestational ages are especially at risk.

Multiple births.  Twins, triplets, and other multiple births — even those born at term — are linked to an increased risk of cerebral palsy. The death of a baby’s twin or triplet further increases the risk.

Infections during pregnancy.  Infections such as toxoplasmosis, rubella (German measles), cytomegalovirus, and herpes, can infect the womb and placenta. Inflammation triggered by infection may then go on to damage the developing nervous system in an unborn baby. Maternal fever during pregnancy or delivery can also set off this kind of inflammatory response.

Blood type incompatibility between mother and child.   Rh incompatibility is a condition that develops when a mother’s Rh blood type (either positive or negative) is different from the blood type of her baby. The mother’s system doesn’t tolerate the baby’s different blood type and her body will begin to make antibodies that will attack and kill her baby’s blood cells, which can cause brain damage.

Exposure to toxic substances.  Mothers who have been exposed to toxic substances during pregnancy, such as methyl mercury, are at a heightened risk of having a baby with cerebral palsy.

Mothers with thyroid abnormalities, intellectual disability, excess protein in the urine, or seizures.  Mothers with any of these conditions are slightly more likely to have a child with CP.

There are also medical conditions during labor and delivery, and immediately after delivery that act as warning signs for an increased risk of CP. However, most of these children will not develop CP. Warning signs include:

Breech presentation.  Babies with cerebral palsy are more likely to be in a breech position (feet first) instead of head first at the beginning of labor. Babies who are unusually floppy as fetuses are more likely to be born in the breech position.

Complicated labor and delivery.  A baby who has vascular or respiratory problems during labor and delivery may already have suffered brain damage or abnormalities.

Small for gestational age.  Babies born smaller than normal for their gestational age are at risk for cerebral palsy because of factors that kept them from growing naturally in the womb.

Low Apgar score.   The Apgar score is a numbered rating that reflects a newborn’s physical health. Doctors periodically score a baby’s heart rate, breathing, muscle tone, reflexes, and skin color during the first minutes after birth. A low score at 10-20 minutes after delivery is often considered an important sign of potential problems such as CP.

Jaundice. More than 50 percent of newborns develop jaundice (yellowing of the skin or whites of the eyes) after birth when bilirubin, a substance normally found in bile, builds up faster than their livers can break it down and pass it from the body. Severe, untreated jaundice can kill brain cells and can cause deafness and CP.

Seizures.  An infant who has seizures faces a higher risk of being diagnosed later in childhood with CP.

Signs and Symptoms of Cerebral Palsy
An infant with cerebral palsy may have muscular and movement problems, including poor muscle tone. Muscle tone refers to a person’s automatic ability to tighten and relax the muscle when required.

Features can include:

Overdeveloped or underdeveloped muscles, leading to stiff or floppy movements
Poor coordination and balance, known as ataxia
Involuntary, slow writhing movements, or athetosis
Stiff muscles that contract abnormally, known as spastic paralysis
Crawling in an unusual way
Lying down in awkward positions
Favoring one side of the body over the other
A limited range of movement

Other signs and symptoms include:

Late achievement of developmental milestones such as crawling, walking, or speaking
Hearing and eyesight problems
Problems controlling bladder and bowel movements
Seizures
Drooling, and problems with feeding, sucking and swallowing
Being easily startled
Symptoms normally start to show during the first 3 years of life.

Complications of Cerebral Palsy
Intellectual and Developmental CP Complications

Intellectual impairment
Prohibits the person from being able to walk or speak clearly
Physical Complications of Cerebral Palsy
When someone is diagnosed with cerebral palsy, other physical conditions may coexist. This includes:

Seizure Disorders
Hydrocephalus
Vision and Hearing Difficulties
Oral Issues – overbites, underbites, and gingival hyperplasia.
Skeletal Issues – scoliosis, humpback, saddleback, and osteoporosis
Urological Issues – incontinence, or involuntary urination
Digestive Issues – difficulty eating, sucking, or swallowing
Pain Issues – Joint and back pain
Cognitive Complications of Cerebral Palsy
Some complications associated with CP are more cognitive (or brain-based). Here are two of the most common:

Autism Spectrum Disorders
Speech and Language Issues
Depression
Diagnosis and Test used for Cerebral Palsy
If your family doctor or pediatrician suspects your child has cerebral palsy, he or she will evaluate your child’s signs and symptoms, review your child’s medical history, and conduct a physical evaluation. Your doctor may refer you to a specialist trained in treating children with brain and nervous system conditions (pediatric neurologist).

Your doctor will also order a series of tests to make a diagnosis and rule out other possible causes.

Brain Scans
Brain-imaging technologies can reveal areas of damage or abnormal development in the brain. These tests may include the following:

Magnetic resonance imaging (MRI). An MRI uses radio waves and a magnetic field to produce detailed 3-D or cross-sectional images of your child’s brain. An MRI can often identify any lesions or abnormalities in your child’s brain.

This test is painless, but it’s noisy and can take up to an hour to complete. Your child will likely receive a mild sedative beforehand. An MRI is usually the preferred imaging test.

Cranial ultrasound. This can be performed during infancy. Cranial ultrasound uses high-frequency sound waves to obtain images of the brain. Ultrasound doesn’t produce a detailed image, but it may be used because it’s quick and inexpensive, and it can provide a valuable preliminary assessment of the brain.

Electroencephalogram (EEG)

If your child has had seizures, your doctor may order an electroencephalogram (EEG) to determine if he or she has epilepsy, which often occurs in people with cerebral palsy. In an EEG test, a series of electrodes are affixed to your child’s scalp.

The EEG records the electrical activity of your child’s brain. If he or she has epilepsy, it’s common for there to be changes in normal brain wave patterns.

Laboratory tests
Laboratory tests may also screen for genetic or metabolic problems.

Additional tests
If your child is diagnosed with cerebral palsy, you’ll likely be referred to specialists for assessments of other conditions often associated with the disorder. These tests may identify:

Vision impairment
Hearing impairment
Speech delays or impairments
Intellectual disabilities
Other developmental delays
Movement disorders
Treatments and Medications
A child may need one or several different types of treatment depending on how severe the symptoms are and what parts of the body are affected. The treatment differs from person to person, depending on each one’s specific needs. Although the initial damage of cerebral palsy in the brain cannot be reversed, earlier and aggressive treatments may help to improve function and adjustments for the young nervous system and musculoskeletal system.

Families may also work with their health care providers and, during the school years, school staff to develop individual care and treatment programs.

Common types of treatment for cerebral palsy include:

Physical therapy and rehabilitation
A child with cerebral palsy usually starts these therapies in the first few years of life or soon after being diagnosed. Physical therapy is one of the most important parts of treatment. It involves exercises and activities that can maintain or improve muscle strength, balance, and movement. A physical therapist helps the child learn skills such as sitting, walking, or using a wheelchair. Other types of therapy include:

Occupational therapy
This type of therapy helps a child learn to do everyday activities such as dressing and going to school.

Recreational therapy
Participating in art programs, cultural activities, and sports can help improve a child’s physical and intellectual skills.

Speech and language therapy
A speech therapist can help a child learn to speak more clearly, help with swallowing problems, and teach new ways to communicate, such as by using sign language or a special communication device.

Orthotic devices
Braces, splints, and casts can be placed on the affected limbs and can improve movement and balance. Other devices that can help with movement and posture include wheelchairs, rolling walkers, and powered scooters.

Assistive devices and technologies
These include special computer-based communication machines, Velcro-fastened shoes, or crutches, which can help make daily life easier.

Medication
Certain medications can relax stiff or overactive muscles and reduce abnormal movement. They may be taken by mouth, injected into affected muscles, or infused into the fluid surrounding the spinal cord through a pump implanted near the spinal cord. For children who have cerebral palsy and epilepsy (seizures), standard epileptic medications should be considered, but these medications may also have negative effects on the developing brain.

Surgery
There are multiple surgical treatments that can help correct movement problems in children with cerebral palsy. However, parents should keep in mind that surgery isn’t right for every child with cerebral palsy.

Surgery is most commonly prescribed for those with spastic cerebral palsy because their increased muscle tone can be reduced to relieve restricted movement. For example, a child who walks on their toes due to high muscle tone in their legs can have those muscles or tendons lengthened, allowing for more normal walking.

Surgeries that can improve mobility in children with high muscle tone include:

Muscle and tendon lengthening – A procedure used to correct contracted muscles or tendons, freeing up movement to walk or use hands.

Tendon transfer – Transferring tendons from one bone to another is intended to give better alignment and motor control, especially in the feet and ankles.

Tenotomy/myotomy – Cutting the tendon/muscle can relieve pain and restrictive movement caused by contractures – a permanent tightening of tendons or muscles.

Neurectomy – Cutting the nerve that controls a specific muscle group can reduce spasticity or rigidity in that area. It is generally used to correct hip dislocations.

Osteotomy – A procedure to realign joints by removing part of the bone.

Arthrodesis – Fusing two bones together can produce stability in some cases.

Selective dorsal rhizotomy – This aggressive procedure involves cutting specific nerves in the spinal column to correct spasticity in various muscle groups throughout the body.

Can cerebral palsy be prevented?
In many cases, the cause of cerebral palsy is not known, so there is nothing that can be done to prevent it. In spite of improvements in the care of pregnant women and sick babies, the number of babies with cerebral palsy seems to be increasing. This is due, in part, to the survival of an increasing number of very premature babies, who are at high risk of cerebral palsy.

However, some causes of cerebral palsy have been identified, and cases of cerebral palsy that result from them often can be prevented.  Rh disease and congenital rubella syndrome used to be important causes of cerebral palsy. Now Rh disease usually can be prevented when an Rh-negative pregnant woman receives appropriate care. Women can be tested for immunity to rubella before pregnancy and be vaccinated if they are not immune.

Babies with severe jaundice can be treated with special lights (phototherapy). Head injuries in babies, a significant cause of cerebral palsy in the early months of life, often can be prevented when babies ride in car seats properly positioned in the back seat of the car. Routine vaccination of babies (with the Hib vaccine) prevents many cases of meningitis, another cause of brain damage in the early months.

A woman can help reduce her risk of preterm delivery when she seeks early monitoring (ideally starting with a pre-pregnancy visit) and regular prenatal care and avoids cigarettes, alcohol and illicit drugs.

Cerebral palsy (CP); Origin,Definition, History, Causes,Symptons,Diagnosis, Treatment,Prevention

What is Cerebral Palsy?
Cerebral palsy (CP) is a group of disorders that affect a person’s ability to move and maintain balance and posture. CP is the most common motor disability in childhood. Cerebral means having to do with the brain. Palsy means weakness or problems with using the muscles. CP is caused by abnormal brain development or damage to the developing brain that affects a person’s ability to control his or her muscles.

The symptoms of CP vary from person to person. A person with severe CP might need to use special equipment to be able to walk, or might not be able to walk at all and might need lifelong care. A person with mild CP, on the other hand, might walk a little awkwardly, but might not need any special help. CP does not get worse over time, though the exact symptoms can change over a person’s lifetime.

All people with CP have problems with movement and posture. Many also have related conditions such as intellectual disability pdf icon; seizures; problems with vision pdf icon, hearing, or speech; changes in the spine (such as scoliosis); or joint problems (such as contractures).

Types of Cerebral Palsy
Doctors classify CP according to the main type of movement disorder involved. Depending on which areas of the brain are affected, one or more of the following movement disorders can occur:

Stiff muscles (spasticity)
Uncontrollable movements (dyskinesia)
Poor balance and coordination (ataxia)
There are four main types of CP:

Spastic Cerebral Palsy
The most common type of CP is spastic CP. Spastic CP affects about 80% of people with CP. People with spastic CP have increased muscle tone. This means their muscles are stiff and, as a result, their movements can be awkward. Spastic CP usually is described by what parts of the body are affected:

Spastic diplegia/diparesis – In this type of CP, muscle stiffness is mainly in the legs, with the arms less affected or not affected at all. People with spastic diplegia might have difficulty walking because tight hip and leg muscles cause their legs to pull together, turn inward, and cross at the knees (also known as scissoring).
Spastic hemiplegia/hemiparesis – This type of CP affects only one side of a person’s body; usually the arm is more affected than the leg.
Spastic quadriplegia/quadriparesis – Spastic quadriplegia is the most severe form of spastic CP and affects all four limbs, the trunk, and the face. People with spastic quadriparesis usually cannot walk and often have other developmental disabilities such as intellectual disability; seizures; or problems with vision, hearing, or speech.

Dyskinetic Cerebral Palsy
This type also includes athetoid, choreoathetoid, and dystonic cerebral palsies)

People with dyskinetic CP have problems controlling the movement of their hands, arms, feet, and legs, making it difficult to sit and walk. The movements are uncontrollable and can be slow and writhing or rapid and jerky. Sometimes the face and tongue are affected and the person has a hard time sucking, swallowing, and talking. A person with dyskinetic CP has muscle tone that can change (varying from too tight to too loose) not only from day to day but even during a single day.

Ataxic Cerebral Palsy
People with ataxic CP have problems with balance and coordination. They might be unsteady when they walk. They might have a hard time with quick movements or movements that need a lot of control, like writing. They might have a hard time controlling their hands or arms when they reach for something.

Mixed Cerebral Palsy
Some people have symptoms of more than one type of CP. The most common type of mixed CP is spastic-dyskinetic CP.

What Causes Cerebral Palsy (CP)?
Cerebral palsy is a neuromuscular disorder caused by damage to the motor cortex of the developing brain. This affects motor functioning, including an individual’s ability to move, grasp objects and talk.

It can also affect muscle tone, resulting in individuals with overly toned, tight muscles and rigid joints or loose, floppy muscles and joints.

The type and severity of CP symptoms will depend in large part on the extent of the brain injury and when it occurred. There are four primary situations that will lead to cerebral palsy to arise:

Prenatal disturbance of brain cell migration. In the developing fetus, cells differentiate and move into place in order to form the appropriate type of cell. If something disrupts this process, preventing brain cells from migrating and developing properly, a number of neurological conditions can arise.
Prenatal poor myelination of nerve cells. In the body, myelin acts as insulation to protect nerve cells. Inadequate myelin can result in unprotected nerve cells, which can become damaged.
Perinatal brain cell death. During the birthing process, brain cells may die as a result of asphyxia (suffocation) or blood loss. This is most commonly seen in difficult deliveries or periods of fetal distress late in pregnancy necessitating an emergency birth.
Postnatal non-functional or inappropriate synapses. After birth, brain injury can result in brain damage and CP. Some common causes are brain infection, trauma, and asphyxia.
Although not every case of CP is preventable, and the underlying causes of many CP cases are unknown, there are certain risk factors that can increase a child’s odds of developing cerebral palsy:

Premature birth or low birth weight
Fetal distress, including problems with the placenta, umbilical cord, and amniotic fluid
Long and difficult labor during which asphyxiation can occur
Meningitis or other brain infection
Trauma after birth, including accidents that could lead to brain damage
Although the exact cause of an individual’s cerebral palsy is not always uncovered, it’s estimated that between 10 to 15 percent of CP cases arise as a result of medical malpractice. This may include:

Failure to recognize fetal distress during labor and intervene accordingly
Failure to resuscitate a “blue baby” quickly enough after birth
Writing a prescription for a medication unsafe for a pregnant mother
And other issues arising from a failure to provide an adequate standard of care before, during and after birth.
What are the risk factors?
There are some medical conditions or events that can happen during pregnancy and delivery that may increase a baby’s risk of being born with cerebral palsy. These risks include:

Low birthweight and premature birth. Premature babies (born less than 37 weeks into pregnancy) and babies weighing less than 5 ½ pounds at birth have a much higher risk of developing cerebral palsy than full-term, heavier weight babies.  Tiny babies born at very early gestational ages are especially at risk.

Multiple births.  Twins, triplets, and other multiple births — even those born at term — are linked to an increased risk of cerebral palsy. The death of a baby’s twin or triplet further increases the risk.

Infections during pregnancy.  Infections such as toxoplasmosis, rubella (German measles), cytomegalovirus, and herpes, can infect the womb and placenta. Inflammation triggered by infection may then go on to damage the developing nervous system in an unborn baby. Maternal fever during pregnancy or delivery can also set off this kind of inflammatory response.

Blood type incompatibility between mother and child.   Rh incompatibility is a condition that develops when a mother’s Rh blood type (either positive or negative) is different from the blood type of her baby. The mother’s system doesn’t tolerate the baby’s different blood type and her body will begin to make antibodies that will attack and kill her baby’s blood cells, which can cause brain damage.

Exposure to toxic substances.  Mothers who have been exposed to toxic substances during pregnancy, such as methyl mercury, are at a heightened risk of having a baby with cerebral palsy.

Mothers with thyroid abnormalities, intellectual disability, excess protein in the urine, or seizures.  Mothers with any of these conditions are slightly more likely to have a child with CP.

There are also medical conditions during labor and delivery, and immediately after delivery that act as warning signs for an increased risk of CP. However, most of these children will not develop CP. Warning signs include:

Breech presentation.  Babies with cerebral palsy are more likely to be in a breech position (feet first) instead of head first at the beginning of labor. Babies who are unusually floppy as fetuses are more likely to be born in the breech position.

Complicated labor and delivery.  A baby who has vascular or respiratory problems during labor and delivery may already have suffered brain damage or abnormalities.

Small for gestational age.  Babies born smaller than normal for their gestational age are at risk for cerebral palsy because of factors that kept them from growing naturally in the womb.

Low Apgar score.   The Apgar score is a numbered rating that reflects a newborn’s physical health. Doctors periodically score a baby’s heart rate, breathing, muscle tone, reflexes, and skin color during the first minutes after birth. A low score at 10-20 minutes after delivery is often considered an important sign of potential problems such as CP.

Jaundice. More than 50 percent of newborns develop jaundice (yellowing of the skin or whites of the eyes) after birth when bilirubin, a substance normally found in bile, builds up faster than their livers can break it down and pass it from the body. Severe, untreated jaundice can kill brain cells and can cause deafness and CP.

Seizures.  An infant who has seizures faces a higher risk of being diagnosed later in childhood with CP.

Signs and Symptoms of Cerebral Palsy
An infant with cerebral palsy may have muscular and movement problems, including poor muscle tone. Muscle tone refers to a person’s automatic ability to tighten and relax the muscle when required.

Features can include:

Overdeveloped or underdeveloped muscles, leading to stiff or floppy movements
Poor coordination and balance, known as ataxia
Involuntary, slow writhing movements, or athetosis
Stiff muscles that contract abnormally, known as spastic paralysis
Crawling in an unusual way
Lying down in awkward positions
Favoring one side of the body over the other
A limited range of movement

Other signs and symptoms include:

Late achievement of developmental milestones such as crawling, walking, or speaking
Hearing and eyesight problems
Problems controlling bladder and bowel movements
Seizures
Drooling, and problems with feeding, sucking and swallowing
Being easily startled
Symptoms normally start to show during the first 3 years of life.

Complications of Cerebral Palsy
Intellectual and Developmental CP Complications

Intellectual impairment
Prohibits the person from being able to walk or speak clearly
Physical Complications of Cerebral Palsy
When someone is diagnosed with cerebral palsy, other physical conditions may coexist. This includes:

Seizure Disorders
Hydrocephalus
Vision and Hearing Difficulties
Oral Issues – overbites, underbites, and gingival hyperplasia.
Skeletal Issues – scoliosis, humpback, saddleback, and osteoporosis
Urological Issues – incontinence, or involuntary urination
Digestive Issues – difficulty eating, sucking, or swallowing
Pain Issues – Joint and back pain
Cognitive Complications of Cerebral Palsy
Some complications associated with CP are more cognitive (or brain-based). Here are two of the most common:

Autism Spectrum Disorders
Speech and Language Issues
Depression
Diagnosis and Test used for Cerebral Palsy
If your family doctor or pediatrician suspects your child has cerebral palsy, he or she will evaluate your child’s signs and symptoms, review your child’s medical history, and conduct a physical evaluation. Your doctor may refer you to a specialist trained in treating children with brain and nervous system conditions (pediatric neurologist).

Your doctor will also order a series of tests to make a diagnosis and rule out other possible causes.

Brain Scans
Brain-imaging technologies can reveal areas of damage or abnormal development in the brain. These tests may include the following:

Magnetic resonance imaging (MRI). An MRI uses radio waves and a magnetic field to produce detailed 3-D or cross-sectional images of your child’s brain. An MRI can often identify any lesions or abnormalities in your child’s brain.

This test is painless, but it’s noisy and can take up to an hour to complete. Your child will likely receive a mild sedative beforehand. An MRI is usually the preferred imaging test.

Cranial ultrasound. This can be performed during infancy. Cranial ultrasound uses high-frequency sound waves to obtain images of the brain. Ultrasound doesn’t produce a detailed image, but it may be used because it’s quick and inexpensive, and it can provide a valuable preliminary assessment of the brain.

Electroencephalogram (EEG)

If your child has had seizures, your doctor may order an electroencephalogram (EEG) to determine if he or she has epilepsy, which often occurs in people with cerebral palsy. In an EEG test, a series of electrodes are affixed to your child’s scalp.

The EEG records the electrical activity of your child’s brain. If he or she has epilepsy, it’s common for there to be changes in normal brain wave patterns.

Laboratory tests
Laboratory tests may also screen for genetic or metabolic problems.

Additional tests
If your child is diagnosed with cerebral palsy, you’ll likely be referred to specialists for assessments of other conditions often associated with the disorder. These tests may identify:

Vision impairment
Hearing impairment
Speech delays or impairments
Intellectual disabilities
Other developmental delays
Movement disorders
Treatments and Medications
A child may need one or several different types of treatment depending on how severe the symptoms are and what parts of the body are affected. The treatment differs from person to person, depending on each one’s specific needs. Although the initial damage of cerebral palsy in the brain cannot be reversed, earlier and aggressive treatments may help to improve function and adjustments for the young nervous system and musculoskeletal system.

Families may also work with their health care providers and, during the school years, school staff to develop individual care and treatment programs.

Common types of treatment for cerebral palsy include:

Physical therapy and rehabilitation
A child with cerebral palsy usually starts these therapies in the first few years of life or soon after being diagnosed. Physical therapy is one of the most important parts of treatment. It involves exercises and activities that can maintain or improve muscle strength, balance, and movement. A physical therapist helps the child learn skills such as sitting, walking, or using a wheelchair. Other types of therapy include:

Occupational therapy
This type of therapy helps a child learn to do everyday activities such as dressing and going to school.

Recreational therapy
Participating in art programs, cultural activities, and sports can help improve a child’s physical and intellectual skills.

Speech and language therapy
A speech therapist can help a child learn to speak more clearly, help with swallowing problems, and teach new ways to communicate, such as by using sign language or a special communication device.

Orthotic devices
Braces, splints, and casts can be placed on the affected limbs and can improve movement and balance. Other devices that can help with movement and posture include wheelchairs, rolling walkers, and powered scooters.

Assistive devices and technologies
These include special computer-based communication machines, Velcro-fastened shoes, or crutches, which can help make daily life easier.

Medication
Certain medications can relax stiff or overactive muscles and reduce abnormal movement. They may be taken by mouth, injected into affected muscles, or infused into the fluid surrounding the spinal cord through a pump implanted near the spinal cord. For children who have cerebral palsy and epilepsy (seizures), standard epileptic medications should be considered, but these medications may also have negative effects on the developing brain.

Surgery
There are multiple surgical treatments that can help correct movement problems in children with cerebral palsy. However, parents should keep in mind that surgery isn’t right for every child with cerebral palsy.

Surgery is most commonly prescribed for those with spastic cerebral palsy because their increased muscle tone can be reduced to relieve restricted movement. For example, a child who walks on their toes due to high muscle tone in their legs can have those muscles or tendons lengthened, allowing for more normal walking.

Surgeries that can improve mobility in children with high muscle tone include:

Muscle and tendon lengthening – A procedure used to correct contracted muscles or tendons, freeing up movement to walk or use hands.

Tendon transfer – Transferring tendons from one bone to another is intended to give better alignment and motor control, especially in the feet and ankles.

Tenotomy/myotomy – Cutting the tendon/muscle can relieve pain and restrictive movement caused by contractures – a permanent tightening of tendons or muscles.

Neurectomy – Cutting the nerve that controls a specific muscle group can reduce spasticity or rigidity in that area. It is generally used to correct hip dislocations.

Osteotomy – A procedure to realign joints by removing part of the bone.

Arthrodesis – Fusing two bones together can produce stability in some cases.

Selective dorsal rhizotomy – This aggressive procedure involves cutting specific nerves in the spinal column to correct spasticity in various muscle groups throughout the body.

Can cerebral palsy be prevented?
In many cases, the cause of cerebral palsy is not known, so there is nothing that can be done to prevent it. In spite of improvements in the care of pregnant women and sick babies, the number of babies with cerebral palsy seems to be increasing. This is due, in part, to the survival of an increasing number of very premature babies, who are at high risk of cerebral palsy.

However, some causes of cerebral palsy have been identified, and cases of cerebral palsy that result from them often can be prevented.  Rh disease and congenital rubella syndrome used to be important causes of cerebral palsy. Now Rh disease usually can be prevented when an Rh-negative pregnant woman receives appropriate care. Women can be tested for immunity to rubella before pregnancy and be vaccinated if they are not immune.

Babies with severe jaundice can be treated with special lights (phototherapy). Head injuries in babies, a significant cause of cerebral palsy in the early months of life, often can be prevented when babies ride in car seats properly positioned in the back seat of the car. Routine vaccination of babies (with the Hib vaccine) prevents many cases of meningitis, another cause of brain damage in the early months.

A woman can help reduce her risk of preterm delivery when she seeks early monitoring (ideally starting with a pre-pregnancy visit) and regular prenatal care and avoids cigarettes, alcohol and illicit drugs.

Cystic Hygroma; Origin,Definition, History, Causes,Symptons,Diagnosis, Treatment,Prevention

Cystic Hygroma – Description

A cystic hygroma is a fluid-filled sac that results from a blockage in the lymphatic system. They are also known as Lymphatic Malformation (LM). It is most commonly located in the neck or head area but can be located anywhere in the body. It may be discovered in a fetus during a pregnancy ultrasound, or it may be apparent at birth as a soft bulge under the skin.

Cystic Hygroma in Neck

Cystic Hygroma in Foot Fingers
By the end of the fifth week of pregnancy, the baby’s lymphatic tissues form as lymph sacs. The first to appear to serve the chest, arms, neck, and head. They sprout a network of channels called lymphatic vessels that maintain fluid in the baby’s body and carry fats and immune system cells. When a problem occurs between the veins and developing lymph sacs, the sacs expand with fluid and partially or completely block this vessel system.

Cystic Hygroma in Elbow
Pathophysiology of Cystic Hygroma
LMs are thought to arise from a combination of the following:

Failure of lymphatics to connect to the venous system
Abnormal budding of lymphatic tissue
Sequestered lymphatic rests that retain their embryonic growth potential
These lymphatic rests can penetrate adjacent structures or dissect along fascial planes and eventually become canalized. These spaces retain their secretions and develop cystic components because of the lack of a venous outflow tract. The nature of the surrounding tissue determines whether the lymphangioma is capillary, cavernous, or cystic.

LMs tend to form in loose areolar tissue, whereas capillary and cavernous forms of lymphangiomas tend to form in muscle. Studies using cell proliferation markers have demonstrated that lymphangioma enlargement is related more to engorgement than to actual cell proliferation. Molecular studies suggest that vascular endothelial growth factor C (VEGF-C) and its receptors may play an important role in the development of LMs.

In addition to congenital development, LMs can be acquired. They can arise from trauma (including surgery), inflammation, or obstruction of a lymphatic drainage pathway.

What Causes Cystic Hygroma?
Cystic hygromas can develop due to genetic disorders or environmental factors. One or more growths may be present at the time of diagnosis.

Common environmental causes of cystic hygromas are:

Viral infections passed from the mother to the baby during pregnancy
Exposure to drugs or alcohol during pregnancy
Cystic hygromas are seen more often in infants with genetic diseases. They are particularly common in infants with chromosomal abnormalities. Some genetic conditions associated with hygromas include:

Turner’s syndrome, in which female children have one X chromosome instead of two
Trisomy 13, 18, or 21, conditions where children have an extra copy of a chromosome
Noonan syndrome, a disorder caused by a change (mutation) in one of seven particular genes
Risk factors
The risk factors of Lymphangioma include:

Genetic disorders, like Turner syndrome, Down syndrome, and Noonan syndrome, are associated with Lymphangiomas
Any of the Trisomies, such as Trisomy 13 (Patau’s syndrome), Trisomy 18 (Edwards syndrome), and Trisomy 21 (Down syndrome), can increase the risk
Alcohol abuse
A viral infection during pregnancy
Signs and Symptoms
Symptoms of a cystic hygroma vary depending on the location of the cysts. Some children may not experience any symptoms other than growth. If a child has symptoms, they may include:

Fluid-filled sacs on the tongue
Large cysts that appear blue
Obstructive sleep apnea, a sleep disorder that causes breathing to stop and start
Breathing and feeding difficulties
Failure to thrive
Bone and teeth abnormalities
In rare cases, the hygromas may bleed or become infected.

Complications During Cystic Hygroma
The possible complications due to Lymphangioma include:

Infection during the surgical intervention, which may necessitate multiple surgeries
The growth of the tumor after surgery, due to its incomplete removal
Adjoining structures, tissues, nerves, and organs, can be damaged during the surgery
Lymphangioma formations during early stages of pregnancy can complicate the pregnancy and affect normal fetal growth
Blockage of the food pipe (tracheal or bronchial obstruction), windpipe (esophageal obstruction), or intestine (intestinal obstruction), by the overgrown mass
Diagnosis and test
Prenatal diagnosis
Occasionally a cystic hygroma in the fetus may be picked up during maternal ultrasound during pregnancy. The doctor may then recommend an amniocentesis test to rule out fetal genetic abnormalities.
During amniocentesis, a sample of amniotic fluid is obtained by introducing a needle via the pregnant abdomen into the uterus under ultrasound guidance. The amniotic fluid is then tested for genetic abnormalities

Postnatal Diagnosis
This refers to diagnosis after the baby is born.

Some children have visible lesions which enable readily making a diagnosis on physical examination
In children where the swelling is not readily visible or thought to compress other structures, these can be demonstrated with imaging investigations such as MRI scan, CT scan, ultrasound, and occasionally even with x-rays
Other specialized studies such as airway fluoroscopy and lymphoscintigraphy (to outline the lymph network by radiographic imaging) have been occasionally used.
Rarely endoscopic biopsy to remove a sample of the swelling has been performed for confirmation of diagnosis
Treatment and Prevention of Cystic Lymphangioma
Treatment involves surgical removal of the abnormal tissue whenever possible. However, cystic hygromas can often invade other parts of the neck, making this impossible.

Other treatments have been attempted with only limited success, including:

Chemotherapy medications
Injection of sclerosing medications
Radiation therapy
Steroids
Let’s see the treatment required for before and after pregnancy

Prenatal Cystic Hygromas
Cystic hygromas diagnosed when the baby is in the womb are not treated. Instead, the doctor will closely monitor the baby’s health. There is an increased risk of miscarriage and intrauterine fetal death. Sometimes prenatal cystic hygromas disappear before birth. If there is spontaneous disappearance of the cystic hygroma by 20 weeks of pregnancy, the chances of chromosomal abnormalities are less.

It is advisable to schedule the delivery in a specialist center to avoid complications during birth

Postnatal Cystic Hygromas
In babies with no symptoms due to the swelling, the doctors may adopt a ‘watch and wait’ approach

Surgery: In babies with symptomatic swelling, surgical removal of the swelling under general anesthesia is performed. The entire swelling should be excised to prevent future recurrences. Surgery requires a hospital stay for a few days.

Sclerotherapy: In larger lesions, sclerotherapy using chemicals to scar or shrink the growth is another method. Once the growth becomes smaller, it may be surgically excised. If growth recurs, multiple sclerotherapy sessions may be necessary. The procedure is performed by an interventional radiologist under general anesthesia. It may be done as a day procedure.

Radiation therapy: Other treatment modalities such as radiofrequency ablation, laser-induced thermotherapy, chemotherapy and steroid medications have also been employed to shrink the lesion

One should not puncture the cyst or drain the swelling without medical supervision. It can lead to severe bleeding or infection.

Complications of Various Treatments
Bleeding and infection can occur during any invasive procedure
Surgery – complications related to anesthesia, damage to nerve, muscle or other tissues during surgery
Sclerotherapy – Allergic reactions to injected chemical, recurrence, scar formation
Outlook
The long-term outlook for cystic hygromas depends on the size and location of the growth.
Some cases of cystic hygromas have associations with other genetic conditions that may impact a child’s development.
Cystic hygromas can return even after treatment or multiple treatments, especially if doctors cannot remove all the tissue.

Cardiac tamponade; Origin,Definition, History, Causes,Symptons,Diagnosis, Treatment,Prevention

Overview
Cardiac tamponade is a serious medical condition in which blood or fluids fill the space between the sac that encases the heart and the heart muscle. This places extreme pressure on your heart. The pressure prevents the heart’s ventricles from expanding fully and keeps your heart from functioning properly. Your heart can’t pump enough blood to the rest of your body when this happens. This can lead to organ failure, shock, and even death.

Pathophysiology
Cardiac tamponade occurs when increased pressure within the pericardial sac, caused by the excess fluid, becomes sufficient to restrict the filling of the heart during diastole. Since the heart can no longer fill completely, less blood is ejected with each heartbeat, and the heart has to work much harder to supply the body’s needs. Furthermore, the blood trying to enter the heart tends to back up, producing congestion in the lungs and veins.

The amount of pericardial fluid which is necessary to produce tamponade depends on to a great extent on how rapidly the fluid has accumulated. If pericardial fluid increases rapidly, the pericardium does not have time to “stretch,” and the pressure within the pericardial space can increase greatly— even with a relatively small amount of fluid. On the other hand, if the pericardial fluid accumulates more gradually (say, over a period of days or weeks), the pericardium has time to stretch out to accommodate the extra fluid. In this case, the pressure within the pericardial space may not increase substantially until the pericardial effusion has become quite large, to the point at which the pericardium is incapable of stretching any further.

Phases of Cardiac Tamponade
3 phases of hemodynamic changes in tamponade, as follows:

Phase I – The accumulation of pericardial fluid impairs relaxation and filling of the ventricles, requiring a higher filling pressure; during this phase, the left and right ventricular filling pressures are higher than the intrapericardial pressure
Phase II – With further fluid accumulation, the pericardial pressure increases above the ventricular filling pressure, resulting in reduced cardiac output (see the Cardiac Output calculator)
Phase III – A further decrease in cardiac output occurs, which is due to the equilibration of pericardial and left ventricular (LV) filling pressures
Causes
Cardiac tamponade is usually the result of penetration of the pericardium, which is the thin, double-walled sac that surrounds your heart. The cavity around your heart can fill with enough blood or other bodily fluids to compress your heart. As the fluid presses on your heart, less and less blood can enter. Less oxygen-rich blood is pumped to the rest of your body as a result. The lack of blood getting to the heart and the rest of your body can eventually cause shock, organ failure, and cardiac arrest.

The causes of pericardial penetration or fluid accumulation might include:

Gunshot or stab wounds
Blunt trauma to the chest from a car or industrial accident
Accidental perforation after cardiac catheterization, angiography, or insertion of a pacemaker
Punctures made during placement of a central line, which is a type of catheter that administers fluids or medications
Cancer that has spread to the pericardial sac, such as breast or lung cancer
A ruptured aortic aneurysm
Pericarditis, an inflammation of the pericardium
Lupus, an inflammatory disease in which the immune system mistakenly attacks healthy tissues
High levels of radiation to the chest
Hypothyroidism, which increases the risk for heart disease
A heart attack
Kidney failure
Infections that affect the heart
Risk factors
Some of the known risk factors for Cardiac Tamponade are:

End-stage renal disease (causing complete failure of kidney function)
Undergoing invasive procedures on the heart and lung
Exposure to infections (such as tuberculosis): Sometimes, healthcare personnel may come in contact with infected individuals; or those living in regions where tuberculosis is prevalent, e.g., Asia and Mexico
The period following an episode of heart attack
Individuals with collagen vascular disorders such as lupus and rheumatoid arthritis
Individuals with certain tumors, such as end-stage lung tumors
Cardiac Tamponade associated with trauma or HIV is more common in young adults, whereas tamponade due to malignancy and/or renal failure occurs more frequently in the elderly.

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

Symptoms
Signs and Symptoms of Cardiac Tamponade may include:

Anxiety, restlessness
Sharp chest pain that is felt in the neck, shoulder, back, or abdomen
Chest pain that gets worse with deep breathing or coughing
Problems breathing
Discomfort, sometimes relieved by sitting upright or leaning forward
Fainting, lightheadedness
Pale, gray, or blue skin
Palpitations
Rapid breathing
Swelling of the legs or abdomen
Jaundice
Other symptoms that may occur with this disorder:

Dizziness
Drowsiness
Weak or absent pulse
Complications
The course of Cardiac Tamponade varies, being dependent upon the underlying cause and speed of onset. The complications may include:

Even if there is a slow development of Cardiac Tamponade over a period of time, it can cause permanent damage to the heart. When not treated early, this can affect the pumping efficiency of the heart and also lead to pulmonary edema (fluid accumulation in the lungs)

When sudden, Cardiac Tamponade can be fatal without treatment. In such a case, if early treatment is not provided, it can interfere with the pumping capacity of heart, eventually causing a heart failure leading to death

Diagnosis and test
These tests may be helpful in helping determine the presence and cause of cardiac tamponade.

Lab Studies:

Full blood picture – blood is taken to measure the level of haemoglobin, red cells, white cells, etc.
Creatine kinase and isoenzymes – Enzymes released when heart muscle is damaged, such as CK-MB, Troponin T/I, may be elevated.
ECG – provides an electrical picture of the heart and can demonstrate low voltages and/or alternating sizes of complexes.
Imaging Studies:

Chest x-ray: The heart may appear large, globular or pear shaped with sharp outlines. In cardiac tamponade, the chest x-ray may demonstrate an enlarged heart shape after 200-250 mL of slow fluid accumulation. A normal cardiac picture seen in patients with rapid accumulation of fluid or blood.
Echocardiography: Most useful technique for demonstrating fluid in the pericardial sac and can show collapse of the right pumping chamber of the heart (ventricle) when the heart relaxes.
Doppler: May show increased flow through specific valves in the heart.
Magnetic Resonance Imaging: May detect blood or fluid around the heart.
Treatment and medications
As cardiac tamponade can result in shock or death, it always requires emergency medical treatment. This treatment involves draining excess fluid from around the heart.

A doctor may use the following methods to remove the fluid and reduce the pressure on the heart:

Pericardiocentesis. The removal of fluid from the pericardium using a needle.
Pericardiectomy. The surgical removal of part of the pericardium to relieve pressure on the heart.
Thoracotomy. A surgical procedure that allows the draining of blood or blood clots around the heart.

According to some research, doctors should choose minimally invasive procedures, such as pericardiocentesis, as the first treatment option. Such options carry a less significant risk of complications and have lower mortality rates.

However, more complicated cases of cardiac tamponade will often require surgery, including a thoracotomy.

After surgery, the individual may receive the following as they stabilize:

Intravenous (IV) fluids to maintain normal blood pressure
Medications to increase blood pressure
Oxygen to reduce stress on the heart
Once the person is stable, the doctor will need to determine and treat the underlying cause of the cardiac tamponade to prevent further complications.

Preventions
You can cut your risk for some of the health problems that can lead to cardiac tamponade. For example, take care of your heart by:

Eating a heart-healthy diet
Getting enough exercise
Maintaining a healthy weight
Avoiding too much alcohol
Seeing a healthcare provider regularly to treat any health problems
Many cases of cardiac tamponade cannot be prevented, though.

Corticobasal degeneration;Origin,Definition, History, Causes,Symptons,Diagnosis, Treatment,Prevention

Overview
Corticobasal degeneration is a progressive neurological disorder characterized by nerve cell loss and atrophy (shrinkage) of multiple areas of the brain including the cerebral cortex and the basal ganglia. Corticobasal degeneration progresses gradually. Initial symptoms, which typically begin at or around age 60, may first appear on one side of the body (unilateral), but eventually, affect both sides as the disease progresses.

Affected individuals often initially experience motor abnormalities in one limb that eventually spreads to affect all the arms and legs. Such motor abnormalities include muscle rigidity and the inability to perform purposeful or voluntary movements (apraxia). Affected individuals may have sufficient muscle power for manual tasks, but often have difficulty directing their movements appropriately

Although CBD was historically described as a motor disease, it is now recognized that cognitive and behavioral symptoms also herald CBD and not uncommonly predate motor symptoms. Initial symptoms typically appear in people during the sixth decade and may include poor coordination or difficulty accomplishing goal-directed tasks (e.g., buttoning a shirt).

Causes and Risk factors
The underlying cause of corticobasal degeneration (CBD) is poorly understood. However, researchers have found that a protein called tau plays a role in the development of CBD.
Tau is a specific type of protein that is normally found in the brain. In CBD, abnormal levels of tau accumulate in the brain cells, eventually leading to their deterioration and causing symptoms of the condition. Exactly why this happens is unknown.
Tau also appears to play a role in other neurodegenerative diseases such as Alzheimer disease, progressive supranuclear palsy, and frontotemporal dementia.
There is no evidence to suggest that environmental exposure to toxic or infectious agents plays a role in causing CBD.
Symptoms and signs
People with corticobasal degeneration (CBD) develop a range of difficulties with movement, speech, memory, and swallowing.

The main symptoms of CBD are outlined below. Most people with the condition won’t experience all of these.

Early symptoms

CBD typically affects one of the limbs at first. This is usually a hand or arm, but sometimes a leg.

Problems affecting the limb can include:

A clumsy or “useless” hand
Muscle stiffness
Shaking (tremors) and spasms (dystonia)
Loss of feeling
Feeling like the limb doesn’t belong to you (an “alien” limb)
Some people also develop problems with walking and coordination

Mid-stage symptoms

As CBD progresses, it may eventually start to cause problems in your other limbs. Walking, balance and coordination may get worse. Many people have problems with their speech, which will become slow and slurred.

Some people with CBD also have dementia, although this doesn’t always occur, symptoms may include:

Problems recalling words, reading and using correct language (aphasia)
Short-term memory loss
Problems carrying out tasks that require planning or thinking ahead
Problems coping with sudden and unexpected situations
The difficulty with numbers and counting
Difficulty seeing things or knowing where they are located (such as furniture)

Advanced stages

As CBD reaches an advanced stage, muscle stiffness will continue to get worse. People with the condition may lose the ability to move 1 or more limbs. Some people are unable to walk and need a wheelchair or assistance to transfer (such as help getting into and out of bed).

Other problems people with advanced CBD can experience include:

Worsening speech problems, which can make it hard for others to understand you
Uncontrollable blinking
Worsening dementia, meaning constant care may be needed
Increasing difficulties swallowing, which may mean a feeding tube is required
Complications
The complications of Corticobasal Degeneration may include:

Aspiration pneumonia
Intellectual disability
Poor feeding
Walking difficulties
Complications may occur with or without treatment, and in some cases, due to treatment also.

Corticobasal degeneration diagnosis and test
It is difficult to detect the disease in its early stage since CBD is quite similar to neurodegenerative diseases. Diagnosis is conducted with the help of some comprehensive neurological exam which is combined with laboratory evaluations.

Imaging Techniques
CT or MRI scans can also be used as they provide images of asymmetric atrophy of the fronto-parietal regions of the cortex.

The imaging methods that are mostly utilized when studying or diagnosing CBD, involve:

Magnetic resonance imaging (MRI)
Fluorodopa positron emission tomography (FDOPA PET)
Single-photon emission computed tomography (SPECT)
Treatment and Medications
There are no specific drugs or therapies to cure this disease as the exact cause of the CBD is not known. Medications are provided to cure the symptoms. There are some medications that help treat CBD directly. These involve:

Memantine

Memantine is designed to treat Alzheimer’s disease. It also helps reduce abnormal brain activity, which helps slow the progression of abnormal brain activity which improves mental and physical functions. However, one should always discuss with the doctor. The side effects of Memantine are drowsiness, shortness of breath, headaches, dizziness, and constipation.

Levodopa

It is generally used for curing Parkinson’s disease. This medication may provide a short-term improvement in muscle stiffness and rigidity as it is less effective on people with CBD. Levodopa works by maximizing the levels of a brain chemical called dopamine which transfers messages from the brain which regulate and supervise the body’s movements. The common side effects of Levodopa are nausea and indigestion. If used for a long time, it may produce side effects like:

Confusion
Drowsiness
Involuntary physical movements, such as jerking as well as mood changes
Baclofen

It is used to treat muscle stiffness and rigidity. It works by blocking out the nerve signals that cause muscle stiffness. The side effects of Baclofen include:

Constipation
Headaches
Dizziness
Diarrhea
Increased need to urinate
The side effects pass away once the body gets habituated to them.

Clonazepam

It is used for treating symptoms of muscle spasm. The side effects of this medication include:

Loss of coordination
Lightheadedness
Fatigue
Dizziness
Muscle weakness
Alcohol intake must be reduced during this time as it only aggravates the symptoms and also magnifies the impact of alcohol.

Cognitive Stimulation
It is a therapy that is used to treat the symptoms of Dementia. It also includes participating in activities and exercises that are designed to improve memory, problem-solving skills and language ability of patients. It usually consists of two 45-minute sessions a week. This therapy is provided by a trained expert.

Speech & Language Therapy
This therapy helps to improvise the speech and swallowing difficulties. It also teaches patients varied techniques to make the most of the speech function by training the voice and making it clear. Patients need some technical support to communicate with other people when CBD progresses. A wide range of communication technologies is available these days.

Physiotherapy
It helps in making use of remaining mobility by using the exercise. Regular exercise helps strengthen the muscles, improve the posture of the body and prevent stiffening of the joints.

Occupational Therapy
In this process, therapists advise patients on how to cope with problems while carrying out daily activities and how to prevent trips and falls. An occupational therapist is also able to identify places in the home that might cause accidents or falls, such as poor lighting, loosely kept rugs, crowded corridors, and walkways.

Treatment of Dysphagia
Dysphagia or trouble and difficulty in swallowing food and water should be treated or it will result in problems of constipation. The treatment involves exercises to help stimulate the nerves which are used to trigger your swallowing reflex and strengthen the muscles which are used during swallowing. A lot of physical techniques are there to make swallowing easier.

Prevention
Currently, Corticobasal Degeneration is not preventable.

If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
Regular medical screening at periodic intervals with tests and physical examinations are recommended.

CFC syndrome; Origin,Definition, History, Causes,Symptons,Diagnosis, Treatment,Prevention

Definition
CFC syndrome is a rare genetic condition that typically affects the heart (cardio-), facial features (facio-) and skin (cutaneous). It is seen with equal frequency in males and females and across all ethnic groups. Children with CFC syndrome may have certain features that suggest the diagnosis, such as relatively large head size, down-slanting eyes, sparse eyebrows, curly hair, areas of thickened or scaly skin, and short stature.   Most will also have a heart defect. While there is a wide spectrum of severity in CFC syndrome, most individuals will have some degree of learning difficulty and developmental delay.

Cardiofaciocutaneous syndrome
There are several characteristic facial features that are evident in CFC syndrome that may overlap with other conditions, particularly Noonan Syndrome (NS) and Costello Syndrome (CS). Therefore, accurate diagnosis is essential for proper medical management.

History
CFC was first reported in1986 by Reynolds and by Baraitser and Patton. Eight individuals were described with distinct facial features, ectodermal abnormalities, cardiac malformations, and intellectual disability. At that time, many believed that the facial features of CFC overlapped with those of NS, and a controversy emerged regarding the delineation of CFC as a new, distinct syndrome versus a severe form of NS.

In 2001, PTPN was found to be one of the causal genes of NS, and it was possible to demonstrate that well-characterized individuals with CFC did not have a mutation in PTPN. Furthermore, individuals with CFC did not carry mutations in the HRAS gene, which causes CS, another phenotypically similar condition. Identification of these 2 genes for NS and CS suggested that CFC, NS, and CS were separate, distinct conditions, with overlapping phenotypes.

The final proof came in 2006 when 2 groups demonstrated that CFC is a heterogeneous disorder caused by mutations in different genes: BRAF, MEK1, MEK2, and KRAS. These discoveries led to the recognition that CFC was a distinct syndrome separate from NS and CS and also explained that the similarity between them lay in a common underlying molecular pathway, the Ras/ mitogen-activated protein kinase (MAPK) pathway.

Epidemiology
Around 300 cases have been published in the literature to date. Prevalence has been estimated at 1/810,000 people in Japan.

Features of the condition
Facial features: Large forehead, relative macrocephaly (large head), narrowing at the sides of the forehead, down-slanting eyes, ptosis (droopy eyelid), depressed nasal bridge, rotated ears.

Heart: Pulmonic stenosis (narrowing of the artery going from the heart to the lungs), atrial septal defects (holes in the upper chambers of the heart), ventricular septal defects (holes in the lower chambers of the heart), hypertrophic cardiomyopathy (enlarged heart muscle)

Skin and hair: Dry, thickened (hyperkeratotic), or scaly (ichythyotic), eczema (extreme dryness of skin and itchiness); sparse, curly, wooly or brittle hair; eyelashes and eyebrows may be absent or sparse.

Eye findings: wide-spaced eyes (hypertelorism), strabismus (eyes turning in/out), nystagmus (jittery eyes), near-sightedness, small optic (eye) nerves. These may result in decreased vision and acuity.

Feeding/ Gastrointestinal (GI) problems: Difficulty feeding, failure to thrive, reflux, vomiting, oral aversion; intestine malrotation, hernia, and constipation.

Growth: May have normal birth weight and length, but they may drop to below the 5th percentile in infancy. Head remains on the growth curve (relative macrocephaly). Some may have growth hormone deficiency.

Neurologic findings: Hypotonia (low muscle tone), seizures, abnormal EEG, hydrocephalus (fluid on the brain), other brain changes; cognitive impairment (ranging from mild to severe).

The thin and sparse hair (b), curly hair (a and c), the absence of eyebrows (a, b and c), hyperkeratosis and wrinkled palm with wide squared tips (d)
Causes
Cardiofaciocutaneous syndrome can be caused by mutations in several genes. Mutations in the BRAF gene are most common, accounting for 75 to 80 percent of all cases. Another 10 to 15 percent of cases result from mutations in one of two similar genes, MAP2K1 and MAP2K2. Fewer than 5 percent of cases are caused by mutations in the KRAS gene.
The BRAF, MAP2K1, MAP2K2, and KRAS genes provide instructions for making proteins that work together to transmit chemical signals from outside the cell to the cell’s nucleus. This chemical signaling pathway, known as the RAS/MAPK pathway, is essential for normal development before birth. It helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement, and the self-destruction of cells (apoptosis).
Mutations in any of these genes can result in the characteristic features of cardiofaciocutaneous syndrome. The protein made from the mutated gene is overactive, which alters tightly regulated chemical signaling during development. The altered signaling interferes with the development of many organs and tissues, leading to the signs and symptoms of cardiofaciocutaneous syndrome.
Some people with the signs and symptoms of cardiofaciocutaneous syndrome do not have an identified mutation in the BRAF, MAP2K1, MAP2K2, or KRAS gene. In these cases, affected individuals may actually have Costello syndrome or Noonan syndrome, which are also caused by mutations in genes involved in RAS/MAPK signaling.
The proteins produced from these genes are all part of the same chemical signaling pathway, which helps explain why mutations in different genes can cause conditions with such similar signs and symptoms. The group of related conditions that includes cardiofaciocutaneous syndrome, Costello syndrome, and Noonan syndrome is often called the RASopathies.
Symptoms
There is a wide range of features of CFC syndrome, including:

True macrocephaly (large head) or relatively large head
High forehead, hypertelorism (wide-spaced eyes), short nose, low set ears, and full lips. These characteristics can resemble Noonan syndrome to a great extent
Brittle and sparse hair together with skin problems, such as scaly or thickened skin
Heart defects relating to valves and openings between the left and right chambers (typically pulmonary artery stenosis), and hypertrophic cardiomyopathy (abnormal development of the muscle of the heart; see entry Cardiomyopathies in Children)
Short stature gradually developing in infancy or childhood
Motor and speech delay (though some follow a normal development)
Learning disability
Feeding problems in the first few years.

Facial features
Diagnosis and test
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment
There is no “cure” for CFC syndrome, but there are several treatments and therapies available. Each treatment plan is tailored to the patient, based on their medical issues.

For those with heart features, treatment is similar to people who have the same heart defect but do not have CFC syndrome. Individuals with CFC syndrome who do not have heart issues are evaluated every couple of years since heart issues can develop later in life.
For those with delayed development, early treatments may include physical, occupational, and/or speech therapy.
Infants with severe feeding issues may need surgery.
Management

Children should see their doctor regularly so they can:

Check their growth and development. Children with delayed growth may need growth hormone therapy.
Check for neurological symptoms, seizures and eye problems.
For those with skin issues, hydrating lotions and other skin treatments may help.
Prevention
Cardiac: Certain congenital heart defects (notably valve dysplasias) require antibiotic prophylaxis for subacute bacterial endocarditis (SBE).

Anesthesia: Individuals with CFC syndrome may have an unrecognized hypertrophic cardiomyopathy or a predisposition to cardiac rhythm disturbances.