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CNS Lymphoma: Causes, Symptoms & Treatments

Central nervous system lymphoma is a rare non-Hodgkin lymphoma in which malignant (cancer) cells from lymph tissue form in the brain and/or spinal cord (primary CNS) or spread from other parts of the body to the brain and/or spinal cord (secondary CNS). Because the eye is so close to the brain, primary CNS lymphoma can also start in the eye (called ocular lymphoma). The cancer can also involve the spinal fluid that bathes the spinal cord and brain. This is called leptomeningeal lymphoma.

Both primary and secondary CNS lymphomas are rare diseases. The cancer is a form of extranodal, high-grade non-Hodgkin B-cell lymphoma. Most forms of CNS lymphoma (about 90 percent) are diffuse large B-cell lymphomas; the remaining ten percent are poorly characterized low-grade lymphomas, Burkitt lymphomas and T-cell lymphomas.

Central nervous system lymphoma is more common in men than women. The median age of diagnosis is 55; the median age of AIDS-infected patients with primary CNS lymphoma is 35.

Causes and Risk Factors

Although the exact causes of CNS lymphoma are not known, there are several factors that may increase a person’s risk for developing the disease, such as having a compromised immune system due to acquired immunodeficiency syndrome (AIDS), other disorders of the immune system, or chronic immunosuppression (a reduced function of the immune system) as a result of organ transplantation.

Symptoms

The symptoms of CNS lymphoma depend on the location of the tumor. Patients may experience nausea and vomiting, leg and arm weakness, seizures, headaches, changes in mental alertness or confusion, facial weakness, double vision and hearing loss and/or swallowing difficulties. Patients with ocular lymphoma may notice blurry vision and patients with lymphoma involving their spinal cord or spinal fluid may experience back pain, leg weakness or incontinence.

Diagnosis

Tests that examine the eyes, brain and spinal cord are used to find and diagnose CNS lymphoma. These tests may include

  • Physical exam and history
  • Neurological exam to check mental status, coordination, ability to walk normally and how well the muscles, senses and reflexes work
  • Slit-lamp eye exam – This test uses a special microscope with a bright, narrow slit of light to check the outside and inside of the eye.
  • Vitrectomy – A surgical procedure in which some of the vitreous humor (the gel-like fluid inside the eyeball) is removed and examined under a microscope to check for cancer cells.
  • Chest x-ray and CT scans of the chest and abdomen
  • MRI scans of the brain and spinal cord
  • Blood and urine tests
  • Lumbar puncture (or spinal tap)
  • Stereotactic biopsy, in which a computer and a three-dimensional scanning device are used to find a tumor and guide the removal of tissue for examination under a microscope to look for cancer cells.

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Staging

After CNS lymphoma is diagnosed, a series of tests may be done to determine whether the cancer has spread. The information is then used to stage the disease and plan treatment. At this time, patients may also want to schedule a consultation with an ophthalmologist (eye doctor).

Some tests used to stage CNS lymphoma include:

  • CT scan
  • PET scan
  • Bone marrow aspiration and biopsy

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  • Slit-lamp eye exam
  • Vitrectomy
  • Testicular examination in men

Prognostic Factors

There are certain factors that affect prognosis (the chance of recovery) and treatment options for CNS lymphoma. These include

  • The patient’s age and overall health
  • Performance status
  • Lactate dehydrogenase level
  • Unusually higher or lower level of certain substances in the blood and cerebrospinal fluid
  • Location of the tumor in the central nervous system
  • Whether the patient has AIDS

Treatment

There is no standard treatment for CNS lymphoma. Your doctor will discuss the best treatment option for you. As CNS lymphoma only affects a small number of people, it is important to be treated by a hematologist/oncologist who is knowledgeable about non-Hodgkin lymphoma. It is important to consider getting a second opinion with a NHL expert to make sure you are aware of all treatment options.

Possible treatment options are listed below. Methotrexate-based combinations have been the most successful for CNS lymphoma patients. These are usually given at high doses and require that the patient be hospitalized while giving the chemotherapy. For patients over age 60 years, radiation treatment can be extremely neurotoxic and it is important to speak to your doctor before receiving this treatment. Patients who have relapsed or refractory CNS lymphoma, cytarabine and topotecan may also be an option. Talk to your doctor about the best care for you.

Treatment options for CNS lymphoma not related to AIDS include:

  • Chemotherapy
  • Chemotherapy followed by radiation therapy
  • Steroid therapy
  • Whole brain radiation therapy
  • A clinical trial of high-dose chemotherapy with stem cell transplant

Treatment options for AIDs-related CNS lymphoma include:

  • Steroids with or without radiation
  • Radiation
  • Chemotherapy followed by radiation therapy

Treatment for recurrent (the cancer comes back) CNS lymphoma includes:

  • Chemotherapy or radiation (if not received as first-line treatment)
  • Chemotherapy and radiation
  • A clinical trial

For some patients, taking part in a clinical trial may be the best treatment choice. There are also several clinical trials available nationally that are examining the role of radiation and the role of bone marrow transplantation for the treatment of primary CNS lymphoma. Your doctor can discuss if these clinical trials are appropriate or available for you. For information about clinical trials for CNS lymphoma, please call our Information Specialists or click here for an online clinical-trial search service supported by LLS that offers patients and caregivers immediate access to listings of blood cancer clinical trials.

Treatment Outcomes

Treatment of CNS lymphoma is most effective when the tumor has not spread outside the cerebrum (the largest part of the brain) and the patient is under age 60, able to maintain daily functions and does not have AIDS or other diseases that weaken the immune system.

Actinic keratosis: Causes, Symptoms & Treatment

As you get older, you may begin to notice rough, scaly spots appearing on your hands, arms, or face. These spots are called actinic keratoses, but they’re commonly known as sunspots or age spots.

Actinic keratoses usually develop in areas that’ve been damaged by years of sun exposure. They form when you have actinic keratosis (AK), which is a very common skin condition.

AK occurs when skin cells called keratinocytes start to grow abnormally, forming scaly, discolored spots. The skin patches can be any of these colors:

  • brown
  • tan
  • gray
  • pink

They tend to appear on the parts of the body that get the most sun exposure, including the following:

  • hands
  • arms
  • face
  • scalp
  • neck

Actinic keratoses aren’t cancerous themselves. However, they can progress to squamous cell carcinoma (SCC), though the likelihood is low.

When they’re left untreated, up to 10 percent of actinic keratoses can progress to SCC. SCC is the second most common type of skin cancer. Due to this risk, the spots should be regularly monitored by your doctor or dermatologist.

What causes actinic keratosis?

AK is primarily caused by long-term exposure to sunlight. You have a higher risk of developing this condition if you:

  • are over age 60
  • have light-colored skin and blue eyes
  • have a tendency to sunburn easily
  • have a history of sunburns earlier in life
  • have been frequently exposed to the sun over your lifetime
  • have human papilloma virus (HPV

 

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What are the symptoms of actinic keratosis?

Actinic keratoses start out as thick, scaly, crusty skin patches. These patches are usually about the size of a small pencil eraser. There might be itching or burning in the affected area.

Over time, the lesions can disappear, enlarge, remain the same, or develop into SCC. There’s no way of knowing which lesions may become cancerous. However, you should have your spots examined by a doctor promptly if you notice any of the following changes:

  • hardening of the lesion
  • inflammation
  • rapid enlargement
  • bleeding
  • redness
  • ulceration

Don’t panic if there are cancerous changes. SCC is relatively easy to diagnose and treat in its early stages.

How is actinic keratosis diagnosed?

Your doctor may be able to diagnose AK simply by looking at it. They may want to take a skin biopsy of any lesions that look suspicious. A skin biopsy is the only foolproof way to tell if lesions have changed into SCC.

How is actinic keratosis treated?

AK may be treated in the following ways:

Excision

Excision involves cutting the lesion from the skin. Your doctor may choose to remove extra tissue around or under the lesion if there are concerns about skin cancer. Depending on the size of the incision, stitches may or may not be needed.

Cauterization

In cauterization, the lesion is burned with an electric current. This kills the affected skin cells.

Cryotherapy

Cryotherapy, also called cryosurgery, is a type of treatment in which the lesion is sprayed with a cryosurgery solution, such as liquid nitrogen. This freezes the cells upon contact and kills them. The lesion will scab over and fall off within a few days after the procedure.

Topical medical therapy

Certain topical treatments such as 5-fluorouracil (Carac, Efudex, Fluoroplex, Tolak) cause inflammation and destruction of the lesions. Other topical treatments include imiquimod(Aldara, Zyclara) and ingenol mebutate (Picato).

Phototherapy

  • During phototherapy, a solution is applied over the lesion and the affected skin. The area is then exposed to intense laser light that targets and kills the cells. Common solutions used in phototherapy include prescription medications, such as aminolevulinic acid(Levulan Kerastick) and methyl aminolevulinate cream (Metvix).

How can you prevent actinic keratosis?

The best way to prevent AK is to reduce your exposure to sunlight. This will also help minimize your risk of skin cancer. Remember to do the following:

  • Wear hats and shirts with long sleeves when you’re in bright sunlight.
  • Avoid going outside at midday, when the sun is brightest.
  • Avoid tanning beds.
  • Always use sunscreen when you’re outside. It’s best to use a sunscreen with a sun protection factor (SPF) rating of at least 30. It should block both ultraviolet A (UVA) and ultraviolet B (UVB) light.

It’s also a good idea to examine your skin regularly. Look for the development of new skin growths or any changes in all existing:

  • bumps
  • birthmarks
  • moles
  • freckles

Make sure to check for new skin growths or changes in these places:

  • face
  • neck
  • ears
  • the tops and undersides of your arms and hands

Schedule an appointment with your doctor as soon as possible if you have any worrisome spots on your skin.

BOW LEG: Causes, Treatment and Prevention

What Causes Bow Legged?

Bowlegs is a condition in which your legs appear bowed-out, meaning your knees stay wide apart even when your ankles are together. Bowlegs can sometimes be a sign of an underlying disease, such as Blount’s disease or rickets, and in the long term can lead to arthritis in the knees and hips. Treatment options include braces, casts, or surgery to correct these bone abnormalities.

This condition is fairly common in infants because of their cramped position in the womb. Typically, no treatment is necessary for infants. A child’s legs will begin to straighten when they start to walk, usually between 12-18 months, and in most cases there are no lasting side effects. You should contact a doctor if your child has bowlegs beyond the age of 2.

Bowleggedness is also known as congenital genu varum.

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Causes of Bowlegs

Blount’s Disease

In Blount’s disease, which is also called “tibia vara,” a child’s shin abnormally develops, curving below the knees. As your child starts to walk, the bowing of the legs becomes worse. This condition may be apparent early on but in some cases symptoms may not be noticeable until they reach adolescence. Over time, bowlegs can lead to joint problems in their knees.

Blount’s disease is more common in females and African-Americans, and obese children. Children who begin walking early are at a greater risk. A child should normally start walking on their own between 11 and 14 months of age.

Rickets

Rickets is a condition resulting from prolonged vitamin D deficiency. This softens and weakens the bones, causing your legs to bow.

Paget’s Disease

This metabolic disease negatively affects the way your bones break down and rebuild. As a result, they do not rebuild as strongly as they should, and over time this can lead to bowlegs and other joint problems. Paget’s disease is more common in older people and can be successfully managed with early diagnosis and treatment.

Dwarfism

The most common form of dwarfism is caused by a condition known as achondroplasia. This is a bone growth disorder that can result in bowlegs over time.

Other Causes

Bowlegs can also be a result of:

  • bone fractures that have not healed properly
  • abnormally-developed bones, or bone dysplasia
  • lead poisoning
  • fluoride poisoning

Recognizing the Symptoms of Bowlegs

This is a very recognizable condition. Your knees will not touch when you stand with your feet and ankles together. Bowlegs will look symmetrical.

In children, most bowleg cases start to improve when a child reaches 12-18 months old. You should talk to your pediatrician if your child’s legs are still bowed beyond the age of two, or if the condition becomes worse.

Diagnosing Bowlegs

Bowed legs are easy to spot, but your doctor can tell you how severe the condition is or whether it is caused by an underlying disease.

During your visit, your doctor will likely take your leg measurements and observe your walk. They may also order an X-ray or other imaging tests of your legs and knees to view any bone abnormalities, and blood tests to confirm your bowlegs are caused by another condition such as rickets or Paget’s disease.

Treatment of Bowlegs

Treatment is usually not recommended for infants and toddlers unless an underlying condition has been identified. Treatment may be recommended if your case of bowlegs is extreme or getting worse, or if an accompanying condition is diagnosed. Treatment options include:

  • special shoes
  • braces
  • casts
  • surgery to correct bone abnormalities
  • treatment of diseases or conditions that cause bowlegs

Can Bowlegs Be Prevented?

There is no known prevention for bowlegs. In some cases, you may be able to prevent certain conditions that cause bowlegs, for example, you can prevent rickets by making sure your child receives sufficient vitamin D, both in their diet and from exposure to sunshine. Be sure to talk to your pediatrician if your child still has bowlegs after the age of two.

Early diagnosis and detection of bowlegs will help you and your child manage this condition.

While arthritis is the primary long term effect of bowleggedness, it can be extremely disabling.  When it is severe,  it effect the knees, the feet, ankles and the hip joints because of the abnormal stresses applied.  These people are typically obese which compounds the problem.  If one is forced to do total knee replacement at a young age, then it is anticipated that a revision would have to be done when the patient is older.  Doing a total knee arthroplasty in these people may be difficult because of the surgeries they have already undergone and because of the abnormal alignment of the bones.

Melanoma skin cancer : Causes, Symptoms & Treatment

Melanoma is the most serious type of skin cancer.  Allowed to grow, melanoma can spread quickly to other parts of the body. This can be deadly.

There is good news. When found early, melanoma is highly treatable. You can find melanoma early by following this 3-step process. Melanoma, the deadliest skin cancer, can show up on your body in different ways. You may see a:

  • Change to an existing mole
  • New spot or patch on your skin
  • A spot that looks like a changing freckle or age spot
  • Dark streak under a fingernail or toenail
  • Band of darker skin around a fingernail or toenail
  • Slowly growing patch of thick skin that looks like a scar

Warning signs to look for

Dermatologists encourage people of all skin colors to perform skin self-exams. Checking your skin can help you find melanoma early when it’s highly treatable. When examining your skin for melanoma, you want to look for the warning signs, which are called the ABCDEs of melanoma :

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Your risk of getting melanoma increases if you:Seek the sun, tanning beds, or sunlamps: The sun, tanning beds, and sunlamps emit ultraviolet light (UV). Scientists have proven that UV light can cause skin cancer in people. Their research also shows you increase your risk of getting melanoma if you:

  • Use tanning beds. Using indoor tanning beds before age 35 can increase your risk of melanoma by 59%, and the risk increases with each use.
  • Had 5 or more blistering sunburns between ages 15 and 20. Research shows this increases one’s risk of getting melanoma by 80%.
  • Live close to the equator. Sunlight is more intense there.
  • Live in a sunny area of the United States like Florida or Arizona.
  • Failed to protect your skin from the sun. People older than 65 may experience melanoma more frequently because of UV exposure they’ve received over the course of their lives. Men older than 50 also have a higher risk of developing melanoma.

While exposure to UV light greatly increases your risk of developing melanoma, your other characteristics also play a role. These include:

Having light-colored skin, hair, or eyes or certain moles: The risk of getting melanoma increases if you have one or more of the following:

  • Fair skin
  • Red or blond hair
  • Blue or green eyes
  • Sun-sensitive skin
  • Skin that rarely tans or burns easily
  • 50 or more moles
  • Large moles
  • An atypical mole (mole that looks like melanoma)


Taking certain medications or having some medical conditions
: Your risk of getting melanoma increases if you have:

  • Had melanoma or another type of skin cancer
  • Had another type of cancer, such as breast or thyroid cancer
  • A disease that weakens your immune system, such as acquired immunodeficiency syndrome (AIDS)
  • To take medicine to quiet your immune system, such as taking life-saving medicines to prevent organ rejection after transplant surgery

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Have a history of melanoma in your family: If a close blood relative has or had melanoma, you have a higher risk of getting melanoma. Organ transplant recipients have an increased risk of getting melanoma.

What causes melanoma?

Ultraviolet (UV) light causes melanoma. We get UV light from the sun and tanning beds. Scientists have shown that UV light from the sun and tanning beds can do two things:

  1. Cause melanoma on normal skin.
  2. Increase the risk of a mole on your skin turning into a melanoma

How do dermatologists treat melanoma?

The type of treatment a patient receives depends on the following:

  • How deeply the melanoma has grown into the skin.
  • Whether the melanoma has spread to other parts of the body.
  • The patient’s health.

The following describes treatment used for melanoma.

Surgery: When treating melanoma, doctors want to remove all of the cancer. When the cancer has not spread, it is often possible for a dermatologist to remove the melanoma during an office visit. The patient often remains awake during the surgical procedures described below.

  • Excision: To perform this, the dermatologist numbs the skin. Then, the dermatologist surgically cuts out the melanoma and some of the normal-looking skin around the melanoma. This normal-looking skin is called a margin. There are different types of excision. Most of the time, this can be performed in a dermatologist’s office.
  • Mohs surgery: A dermatologist who has completed additional medical training in Mohs surgery performs this procedure. Once a dermatologist completes this training, the dermatologist is called a Mohs surgeon.Mohs surgery begins with the Mohs surgeon removing the visible part of the melanoma. Next, the surgeon begins removing the cancer cells. Cancer cells are not visible to the naked eye, so the surgeon removes skin that may contain cancer cells one layer at a time. After removing a layer, it is prepped so that the surgeon can examine it under a microscope and look for cancer cells. This layer-by-layer approach continues until the surgeon no longer finds cancer cells. In most cases, Mohs surgery can be completed within a day or less. Mohs has a high cure rate.

When caught early, removing the melanoma by excision or Mohs may be all the treatment a patient needs. In its earliest stage, melanoma grows in the epidermis (outer layer of skin). Your dermatologist may refer to this as melanoma in situ or stage 0. In this stage, the cure rate with surgical removal is nearly 100%.

When melanoma grows deeper into the skin or spreads, treatment becomes more complex. It may begin with one of the surgeries described above. A patient may need more treatment. Other treatments for melanoma include:

  • Lymphadenectomy: Surgery to remove lymph nodes.
  • Immunotherapy: Treatment that helps the patient’s immune system fight the cancer.
  • Targeted therapy: Drugs that can temporarily shrink the cancer; however, some patients appear to be fully cured.
  • Chemotherapy: Medicine that kills the cancer cells (and some normal cells).
  • Radiation therapy: X-rays that kill the cancer cells (and some normal cells).

 

Squamous Cell Carcinoma: Causes, Symptoms & Treatments

Squamous cell Carcinoma is the second most common form of skin cancer. It’s usually found on areas of the body damaged by UV rays from the sun or tanning beds. Sun-exposed skin includes the head, neck, ears, lips, arms, legs, and hands.

SCC is a fairly slow-growing skin cancer. Unlike other types of skin cancer, it can spread to the tissues, bones, and nearby lymph nodes, where it may become hard to treat. When caught early, it’s easy to treat.

Certain things make you more likely to develop SCC:

  • Older age
  • Male
  • Fair-skinned
  • Blue, green, or gray eyes
  • Blonde or red hair
  • Spend time outside; exposed to the sun’s UV Rays
  • Tanning beds and bulbs
  • Long-term exposure to chemicals such as arsenic in the water
  • Bowen’s disease, HPV, HIV, or AIDS
  • Exposed to radiation
  • Inherited DNA condition

Symptoms

SCC usually begins as a dome-shaped bump or a red, scaly patch of skin. It’s usually rough and crusty, and can bleed easily when scraped. Large growths may itch or hurt. It may also pop through scars or chronic skin sores, so check for any changes and report them to your doctor.

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How It’s Diagnosed

Your doctor may refer you to a dermatologist who specializes in skin conditions. He will ask about your medical history, your history of severe sunburns or indoor tanning, any pain or symptoms you’re having, and when the spot first appeared.

You’ll have a physical exam to check the size, shape, color, and texture of the spot. The dermatologist will also look for other spots on your body and feel your lymph nodes to make sure they aren’t bigger or harder than normal. If your doctor thinks a bump looks questionable, he’ll remove a sample of the spot (a skin biopsy) to send to a lab for testing.

Treatments

Squamous cell carcinoma can usually be treated with minor surgery that can be done in a doctor’s office or hospital clinic. Depending on the size and location of the SCC, your doctor may choose to use any of the following techniques to remove it:

  • Excision: cutting out the cancer spot and some healthy skin around it
  • Surgery using a small hand tool and an electronic needle to kill cancer cells
  • Mohs surgery: excision and then inspecting the excised skin using a microscope
  • Lymph node surgery: remove a piece of the lymph node; uses general anesthesia
  • Dermabrasion: “sanding” your affected area of skin with a tool to make way for a new layer
  • Cryosurgery: freezing of the spot using liquid nitrogen
  • Topical chemotherapy: a gel or cream applied to the skin
  • Targeted drug treatment

How to Protect Yourself

  • Avoid the sun during peak hours.
  • Use sunscreen daily.
  • Wear clothing to cover exposed areas.
  • Avoid tanning beds.

Fibromas : Causes, Symptoms & Treatments

Fibromas are overgrowths of soft tissue. They appear as raised, relatively small areas. They commonly occur on the lips, inside the cheeks and on the tongue. Fibromas are usually pink. They also can be whitish or light-colored. If injured, fibromas may be reddish or bluish. Fibromas may develop because of constant irritation of the lips, the inside of the cheeks, or the tongue.

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Symptoms

You may see or feel the fibroma. There are usually no symptoms. Fibromas may get bigger over time.

Diagnosis

Your dentist will examine your mouth and ask you a few questions. Usually that will be enough for the dentist to diagnose a fibroma and determine a cause. A fibroma can be removed to confirm the diagnosis. In this case it should be examined in a lab to make sure it is not cancerous.

Prevention

To avoid fibromas, avoid habits such as biting your lips or the inside of your cheeks. If you grind your teeth, ask your dentist to fit you with a night guard.

 Treatments

A fibroma will grow if the area continues to be injured. Fibromas that are large or interfere with speech should be removed.

When fibromas are removed, the tissue is sent to a laboratory for a biopsy. If you drink or smoke, your dentist is likely to order a biopsy to rule out oral cancer. Another reason to do a biopsy is if the fibroma has an unusual color. Fibromas are not known to become cancerous over time.

Aicardi Syndrome : Causes, symptoms & Treatments

What Is Aicardi Syndrome?

Aicardi syndrome is a rare genetic disorder that interferes with the formation of the corpus callosum, which is the structure that connects the two sides of the brain. In people with Aicardi syndrome, the corpus callosum is either partially or completely missing. The disorder occurs almost exclusively in newborn girls. Medical researchers don’t believe the disorder is passed from the parents to their child.

The exact cause of Aicardi syndrome isn’t known. However, it’s thought to be caused by a first-time mutation in the child’s genes. Since the disorder primarily affects females, researchers believe the mutation specifically occurs on the X chromosome, which is one of the two sex chromosomes. Females have two X chromosomes. Males typically have one X chromosome and one Y chromosome.

People with Aicardi syndrome often have the following:

  • a partial or complete absence of the corpus callosum
  • infantile spasms or seizures that begin during infancy
  • chorioretinal lacunae, or lesions in the light-sensitive layer of tissue at the back of the eye

Not all people with Aicardi syndrome have these features. However, some people may display additional abnormalities in the brain, eyes, and face. The severity of symptoms varies significantly from one person to another. Some have very severe seizures and may not survive past childhood, while others have milder symptoms and may live well into adulthood.

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What Are the Symptoms of Aicardi Syndrome?

Aicardi syndrome symptoms usually appear in babies between the ages of 2 and 5 months old. Your child may begin jerking or having infantile spasms, a type of seizure that occurs in infants. These seizures can develop into epilepsy later in life. Your child may also develop yellowish spots on their eyes. Lesions on the retina, which is the light-sensitive layer of tissue at the back of the eye, cause these spots.

Other symptoms of Aicardi syndrome include:

  • a coloboma, which is a hole or gap in one of the structures of the eye
  • abnormally small eyes
  • an unusually small head
  • hand deformities
  • intellectual disabilities
  • developmental delays
  • difficulty eating
  • diarrhea
  • constipation
  • gastroesophageal reflux
  • spasticity, which is a condition that causes stiff and rigid muscles

Additional symptoms of Aicardi syndrome include rib and spine abnormalities, such as scoliosis. Children with this disorder may also have unusual facial features, such as a flatter nose, larger ears, or a smaller space between the upper lip and nose. Since Aicardi syndrome can result in poorly developed eyes, children may experience impaired vision or blindness.

Researchers have also found that the brains of children with Aicardi syndrome may have fewer folds and grooves than a normal brain. Fluid-filled cysts may also be present in the brain.

What Causes Aicardi Syndrome?

Aicardi syndrome most often appears in females as well as in boys with Klinefelter’s syndrome, a condition in which a male has an extra X chromosome. For these reasons, researchers believe the disorder is caused by a defect on the X chromosome.

People normally have 46 chromosomes in each cell. Two of the 46 chromosomes are sex chromosomes, known as X and Y. They help determine whether someone will develop male or female sex characteristics. Females have two X chromosomes, while males usually have one X chromosome and one Y chromosome.

During the normal development of an embryo, there should only be one active X chromosome in each cell. This means that one of the two X chromosomes in a female embryo must randomly deactivate during cell formation. In the case of Aicardi syndrome, researchers think that the deactivation of the X chromosomes fails to alternate randomly. As a result, one X chromosome is active in more than half of the body’s cell formations. This is called “skewed X-inactivation.”

Researchers have yet to determine the exact gene that causes skewed X-inactivation, so the cause of the disorder is still not known. This lack of information also makes it difficult to determine the risk factors for Aicardi syndrome.

DIAGNOSIS:

Doctors can usually diagnose Aicardi syndrome based on the symptoms. However, since each child may present different symptoms, additional tests may be needed. Some tests that are used to help doctors make a diagnosis include:

  • eye exams
  • an electroencephalogram (EEG), which evaluates the electrical activity of the brain and detects seizure activity
  • an MRI or CT scan, which provides detailed anatomical images of the head and brain
How Is Aicardi Syndrome Treated?

There’s no cure for Aicardi syndrome at this time. However, some symptoms can be managed with treatment. The most common method of treatment involves controlling the seizures and spasms brought on by the disorder. There are also programs available to help both children and their parents cope with the intellectual disabilities and developmental delays that usually accompany Aicardi syndrome. Your child’s doctor will likely refer you to a pediatric neurologist for further evaluation. A pediatric neurologist is a doctor who specializes in treating nervous system disorders in children. They can help your child with long-term management of Aicardi syndrome. Doctors in these other fields may also be may also be consulted based on the symptoms and severity of the syndrome:

  • neurosurgery
  • ophthalmology
  • orthopedics
  • gastroenterology
  • physical therapy
  • speech therapy
  • occupational therapy

Leg Length Discrepancy: Causes, Symptoms & Treatments

The leg length discrepancy means there is inequality of the length of the lower limbs. It is also called as limb length inequality. The problem is extremely common with 23% of the general population having a discrepancy of 1 cm or more

Leg length discrepancy causes compensatory gait abnormalities, degenerative arthritis of the lower extremity and lumbar spine. In addition to the length inequality, these patients may also have angular and torsional deformities that may influence their functional leg lengths. For example, flexion contractures around the knee and hip can cause apparent shortening of the leg.

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Hip abduction contracture and ankle equinus causes functional lengthening.

Small leg length discrepancy is well compensated by body and hardly requires any treatment. Bigger differences need to be equalized to prevent osteoarthritis , scoliosis and backache in later life.

Causes of Leg Length Discrepancy

The causes can generally be divided into two broad categories: congenital and acquired.

Congenital limb length inequality

  • Longitudinal deficiency of the fibula
  • Hemihypertrophy syndromes
  • Klippel-Trénaunay-Weber syndrome
  • Skeletal dysplasias.
  • Proximal femoral focal deficiency
  • Developmental dysplalsia of hip
  • Unilateral clubfoot
  • Vascular malformation
  • Congenital pseudarthrosis of the tibia
  • Ollier’s disease

Paralytic disorders

  • Spasticity (cerebral palsy)
  • Poliomyelitis
  • Spina bifida
  • Spinal dysraphism

Acquired

  • Physis disruption
    • infection
    • trauma
    • tumor
    • Malunion of fracture

Functional Effects of Limb Length Discrepancy

  • Back pain
    • increased prevalence of back pain
  • Osteoarthritis
    • decreased coverage of femoral head on long leg side leads to osteoarthritis
  • Structural scoliosis
    • Limb length discrepancy increases the incidence of structural scoliosis
  • Inefficient gait

Classification of Limb Length Discrepancy:

  • Static
    • malunion of femur or tibia
  • Progressive
    • Physeal growth arrest
    • Congenital
      • Absolute discrepancy increases
      • Proportion stands the same

Treatment of Leg Length Discrepancy

Goals of treatment are

  • Leg length equality within 1 cm
  • Level pelvis
  • Functional improvement

In certain cases small leg length inequality may be beneficial to the patient especially in neuromuscular disorders to aid in clearance in the swing phase of gait.

Depending on the severity of the difference, different treatments can be used for correction of the inequality.

Treatment of leg length inequality involves many different approaches. Non operative treatment involves use of shoe raises or orthotics.

Surgical approach deals with the problem by

  • Correction of deformity if present
  • Shortening of the normal leg
  • Lengthening of affected leg
  • Combination of shortening and lengthening.

Non-operative Treatment

An inequality < 2cm projected at maturity is generally without any functional problems. Often, surfices. Up to 1 cm can be inserted in the shoe. For larger leg length inequalities, the shoe must be built up.

Leg length inequalities beyond 5 cm are difficult to treat with a shoe lift.

A foot-in-foot prosthesis can be used for larger leg length inequalities but is often not tolerated well. It is often used as temporary measure.

Surgical Treatment

Shortening of long side

Epiphysiodesis of femur, tibia, or both

Epiphysiodesis inhibits the growth of the limb and can be used to correct 2-5 cm of projected limb length discrepancy.

It can be performed only in skeletally immature patients where growthpotential is still present.

Because the procedure effectively shortens the longer leg and is usually done on the uninvolved side, it may be unappealing to the patient and family.

It can be used alone or with limb lengthening of short limb.

Shortening of Mature Limb

This involves ostectomy and removal of bone segment followed by fixation of remaining fragments with desirable fixation device.

Limb lengthening of short side

It is contemplated in cases > 5 cm projected discrepancy. It can be  combined with a shortening procedure (epiphysiodesis, ostectomy) on long side when the discrepancy is large [>8 cmm]

Lengthening is usually done by corticotomy and gradual distraction

The limits of lengthening depend on patient tolerance, bony consolidation, maintenance of range of motion, and stability of the joints above and below the lengthened limb.

Numerous fixation devices are available, such as the ring fixator with fine wires, monolateral fixator with half pins, or a hybrid frame.

What are the Signs and Symptoms of Leg Length Discrepancy (LLD)?

There are multiple signs and symptoms for leg length discrepancy (LLD). Some are obvious and some are subtle. There are differences between individuals on the extent and causes of leg length discrepancy (LLD). The difference in length between the two legs may vary from 3 and a half to 4 percent. These differences often determine the impact that may be experienced by different individuals. Signs and symptoms usually experienced in the patients with leg length discrepancy (LLD) include:

  • If the difference in leg length discrepancy (LLD) is 3 cms and higher, difference will be easily noticed as the person walks.
  • The person affected with leg length discrepancy (LLD) will need to exert more energy to walk.
  • Some people may experience some pain in the lower back, ankle, or hip as they walk. Some studies have collaborated this, while other have refuted this.
  • The person’s posture will be highly affected, causing him/ her to hold the longer leg on the knee for support.
  • The person’s gait will be adversely affected, which will be obviously noticed.

Risk Factors for Leg Length Discrepancy (LLD)

The risk factors for leg length discrepancy (LLD) include:

Patients might have serious dissimilarities in the length of the legs as an effect brought by Leg Length Discrepancy (LLD) due to:

  • Infection.
  • Birth defects.
  • Injuries.
  • Accidents and other causes.

Complications in Leg Length Discrepancy (LLD)

Leg length discrepancy (LLD) with very high difference can become complicated and lead to severe orthopaedic conditions like lower back pain, scoliosis, or arthritis, if left untreated.

  • The patient may experience complications due to contractures of the muscles while having to constantly stand on their toes of the shorter leg for support.
  • Another complication is that the shorter side of their body is often lowered down and suddenly lifted by the longer side, causing them to have abnormal gait that goes up and down.
  • The abnormal gait can cause the child to be highly disturbed psychologically.
  • The patient is often ridiculed and teased by other children, hindering the child’s social life.
  • Most patients with leg length discrepancy (LLD) have to constantly support the shorter leg on the knee while standing, causing them to bend often or they may have to stand on their toes.

Scoliosis: Causes, Symptoms & Treatments

When a person has scoliosis, their backbone curves to the side.

The angle of the curve may be small, large or somewhere in between. But anything that measures more than 10 degrees is considered scoliosis. Doctors may use the letters “C” and “S” to describe the curve of the backbone.

You probably don’t look directly at too many spines, but what you might notice about someone with scoliosis is the way they stand. They may lean a little or have shoulders or hips that look uneven.

What Causes Scoliosis?

In as many as 80% of cases, doctors don’t find the exact reason for a curved spine. Scoliosis without a known cause is what doctors call “idiopathic.”

Some kinds of scoliosis do have clear causes. Doctors divide those curves into two types — structural and nonstructural.

In nonstructural scoliosis, the spine works normally, but looks curved. Why does this happen? There are a number of reasons, such as one leg’s being longer than the other, muscle spasms, and inflammations like appendicitis. When these problems are treated, this type of scoliosis often goes away.

In structural scoliosis, the curve of the spine is rigid and can’t be reversed.

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Causes include:

  • Cerebral palsy
  • Muscular dystrophy
  • Birth defects
  • Infections
  • Tumors
  • Genetic conditions like Marfan syndrome and Down syndrome

Congenital scoliosis begins as a baby’s back develops before birth. Problems with the tiny bones in the back, called vertebrae, can cause the spine to curve. The vertebrae may be incomplete or fail to divide properly. Doctors may detect this condition when the child is born. Or, they may not find it until the teen years.

Family history and genetics can also be risk factors for idiopathic scoliosis. If you or one of your children has this condition, make sure your other kids are screened regularly.

Scoliosis shows up most often during growth spurts, usually when kids are between 10 and 15 years old. About the same number of boys and girls are diagnosed with minor idiopathic scoliosis. But curves in girls are 10 times more likely to get worse and may need to be treated.

Scoliosis diagnosed during the teen years can continue into adulthood. The greater the angle of the spine curve, the more likely it is to increase over time. If you had scoliosis in the past, have your doctor check your back regularly.

Degenerative scoliosis affects adults. It usually develops in the lower back as the disks and joints of the spine begin to wear out as you age.

Treatments:

The main type of surgery for scoliosis involves attaching rods to the spine and doing a spinal fusion. Spinal fusion is used to stabilize and reduce the size of the curve and stop the curve from getting worse by permanently joining the vertebrae into a solid mass of bone.

Other techniques are sometimes used, including instrumentation without fusion, which attaches devices such as metal rods to the spine to stabilize a spinal curve without fusing the spine together. This is only done in very young children when a fusion, which stops the growth of the fused part of the spine, is not desirable. The child usually has to wear a brace full-time after having this surgery.

Pinched Nerve in lower back: Causes, Symptoms & Treatments

A pinched nerve refers to a certain kind of damage to a nerve or group of nerves. It’s caused when a disc, bone, or muscle places increased pressure on the nerve.

It can lead to feelings of:

  • numbness
  • tingling
  • burning
  • pins and needles

A pinched nerve can cause carpal tunnel syndrome, sciatica symptoms (a pinched nerve can’t cause a herniated disc, but a herniated disc can pinch a nerve root), and other conditions.

Some pinched nerves will require professional care to treat. If you’re looking for a way to alleviate mild pain at home, here are nine options you can try. Some of them can be done at the same time. What’s important is to find what works best for you.

TREATMENTS:
I. Laminectomy:
Laminectomy is one of the most common back surgeries. During a laminectomy, a surgeon removes the rear portion of one or more spinal bones (vertebrae). Bone spurs and ligaments that are pressing on nerves may be removed at the same time. Here’s what to expect before, during, and after your laminectomy.
II.  Surgical & Non surgical Spinal Decompression:

What Is Surgical Spinal Decompression?

Surgical spinal decompression is another option for treating certain types of back pain. But it is usually used as a last resort. If other measures don’t work, your doctor may suggest surgical spinal decompression for bulging or ruptured disks, bony growths, or other spinal problems. Surgery may help relieve symptoms from pressure on the spinal cord or nerves, including:

  • Pain
  • Numbness
  • Tingling
  • Weakness

Are There Different Types of Spinal Decompression Surgery?

Your doctor may suggest one or more types of back surgeries to relieve the pressure in your spine. In addition, you may need spinal fusion to stabilize your spine. The following are the more common types of back surgery:

  • Diskectomy: In this procedure, a portion of the disk is removed to relieve pressure on nerves.
  • Laminotomy or laminectomy: A surgeon removes a small portion of bone — a section of bony arch or the entire bony arch — to increase the size of the spinal canal and relieve pressure.
  • Foraminotomy or foraminectomy: A surgeon removes bone and other tissue to expand the openings for nerve roots.
  • Osteophyte removal: During the surgery, bony growths are removed.
  • Corpectomy: This procedure involves removing a vertebral body along with disks between the vertebrae.

What Are the Risks of Spinal Decompression Surgery?

As with any surgery, there are risks. These are some of the more common risks associated with spinal decompression surgery:

  • Infection
  • Bleeding
  • Blood clots
  • Allergic reaction to anesthesia
  • Nerve or tissue damage

Another risk of surgery is that it may not improve back pain much. It can be difficult to determine who will benefit from spinal decompression surgery.

Home remedies:

1. Adjust your posture

You may need to change how you’re sitting or standing to relieve pain from a pinched nerve. Find any position that helps you feel better, and spend as much time in that position as you can.

2. Use a standing workstation

Standing workstations are gaining popularity, and for good reason. Mobility and standing throughout your day are crucial to preventing and treating a pinched nerve.

If you have a pinched nerve or want to avoid one, talk with your human resources department about modifying your desk so that you can stand while working. If you can’t get a standing workstation, be sure to get up and take a walk each hour. Roller balls for tight muscles and an hourly stretching program are a good idea if you use a keyboard frequently. (Wrist braces or supports aren’t recommended as an early treatment strategy.)

3. Rest

No matter where you have a pinched nerve, the best thing is usually to rest as long as possible. Avoid the activity that is causing you pain, such as tennis, golf, or texting.

Rest until the symptoms have completely resolved. When you do start moving that part of your body again, pay attention to how it feels. Stop the activity if your pain returns.

4. Splint

If you have carpal tunnel, which is a pinched nerve in the wrist, a splint can help you rest and protect your wrist. This can be especially helpful overnight so that you don’t curl your wrist in a bad position while you’re sleeping.

5. Stretch

Gentle stretches can help relieve the pressure on your nerve and improve your symptoms. Don’t go too deeply into a stretch. If you begin to feel pain or discomfort, ease up on the stretch. Remember that small movements can have a big impact.

6. Apply heat

You can use heat to relax the muscles that might be tight around a pinched nerve. Heat also increases blood flow, which can help the healing process. You can find heating pads in various sizes at a drugstore.

Hold heat directly onto the pinched nerve for 10–15 minutes at a time.

7. Use ice

Ice reduces swelling and inflammation. Wrap a towel around an ice pack and hold it directly onto the pinched nerve for 10–15 minutes.

8. Elevate your legs

For a pinched nerve in your lower back, try elevating your legs with a 90-degree bend in both your hips and knees.

9. Take an over-the-counter pain reliever

If you want to try a pain reliever, you can take over-the-counter nonsteroidal anti-inflammatory drugs, like ibuprofen (Advil, Motrin IB) or aspirin (Bufferin). Follow the instructions on the bottle, and be sure to check with your doctor before taking any new medications.

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When  need to see a doctor:

If your pain is severe, constant, or keeps returning, you should see a doctor. The doctor may run some tests or ask a lot of questions about your lifestyle to determine what’s causing your pinched nerve.

If the pain, tingling, and numbness doesn’t resolve, it’s important that you see your physician. They may prescribe a stronger anti-inflammatory or suggest additional testing, such as an X-ray, to determine exactly where the nerve is pinched. Your doctor may also prescribe physical therapy, which can help to reduce symptoms.

It’s very important that you stop any at-home treatments if they seem to hurt you or make your condition worse. If you have numbness or tingling that isn’t resolving or is getting worse, contact your physician or an orthopedic physical therapist.

See a doctor immediately if you have a pinched nerve that’s:

  • affecting your bowel or bladder
  • causing a whole limb to be weak or give out
  • preventing you from grasping things
  • causing you to drop things

If at-home treatments aren’t helping, or if you continually get pinched nerves, your doctor may prescribe prescription painkillers, physical therapy, or even surgery.

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