Krabbe (KRAH-buh) disease | inherited disorder

DEFINITION

Krabbe (KRAH-buh) disease is an inherited disorder that destroys the protective coating (myelin) of nerve cells in the brain and throughout the nervous system.

In most cases, signs and symptoms of Krabbe disease develop in babies before 6 months of age, and the disease usually results in death by age 2. When it develops in older children and adults, the course of the disease can vary greatly.

There's no cure for Krabbe disease, and treatment focuses on supportive care. However, stem cell transplants have shown some success in infants who are treated before the onset of symptoms and in some older children and adults.

Krabbe disease affects about 1 in 100,000 people in the United States. It is also known as globoid cell leukodystrophy.

SYMPTOMS

In most cases, the signs and symptoms of Krabbe disease appear during the first few months of life. They begin gradually and progressively worsen.

Infants

Common signs and symptoms early in the course of the disease include the following:

• Feeding difficulties
• Unexplained crying
• Extreme irritability
• Fever with no sign of infection
• Declines in alertness
• Delays in typical developmental milestones
• Muscle spasms
• Loss of head control
• Frequent vomiting

As the disease progresses, signs and symptoms become more severe. They may include:

• Seizures
• Loss of developmental abilities
• Progressive loss of hearing and sight
• Rigid, constricted muscles
• Stiff, fixed posture
• Progressive loss of ability to swallow and breathe

Older children and adults

When Krabbe disease develops later in childhood or during adulthood, signs and symptoms can vary widely. They may include:

• Progressive loss of vision
• Difficulty walking (ataxia)
• Decline in thinking skills
• Loss of manual dexterity
• Muscles weakness

As a general rule, the younger the age that Krabbe disease occurs, the faster the disease progresses and the more likely it is to result in death.

Some people diagnosed during adolescence or adulthood may have less severe symptoms, with muscle weakness as a primary condition. They may have no impairment of their thinking skills.

When to see a doctor

The early signs and symptoms of Krabbe disease in infancy can indicate any number of diseases or developmental problems. Therefore, it's important to get a prompt and accurate diagnosis if your child is experiencing any signs or symptoms of the disease.

Signs and symptoms most often associated with older children and adults also are not specific to Krabbe disease and require a timely diagnosis.

CAUSES

Krabbe disease is caused when a person inherits two copies of an altered (mutated) gene — one copy from each parent.

A gene provides a kind of blueprint for producing proteins. If there is an error in this blueprint, then the protein product may not work properly. In the case of Krabbe disease, two mutated copies of a particular gene result in little or no production of an enzyme called galactocerebrosidase (GALC).

Enzymes, such as GALC, are responsible for breaking down certain substances in a cell's recycling center (lysosome). In Krabbe disease, the short supply of GALC enzymes results in the accumulation of certain types of fats called galactolipids.

Damage to nerve cells

Galactolipids normally exist in cells that produce and maintain the protective coating of nerve cells (myelin). However, an abundance of galactolipids has a toxic effect. Some galactolipids trigger myelin-forming cells to self-destruct.

Other galactolipids are taken up by specialized debris-eating cells in the nervous system called microglia. The process of cleaning up excessive galactolipids transforms these normally helpful cells into abnormal, toxic cells called globoid cells, which promote myelin-damaging inflammation.

The subsequent loss of myelin (demyelination) prevents nerve cells from sending and receiving messages.

RISK FACTORS

The gene mutation associated with Krabbe disease only causes the disease if two mutated copies of the gene are inherited. A disease resulting from two mutated copies is called an autosomal recessive disorder.

If each parent has one mutated copy of the gene, the risk for a child would be as follows:

• A 25 percent chance of inheriting two mutated copies, which would result in the disease
• A 50 percent chance of inheriting only one mutated copy, which would result in the child being a carrier of the mutation but would not result in the disease itself
• A 25 percent chance of inheriting two normal copies of the gene

Genetic testing

Genetic testing to understand the risk of having a child with Krabbe disease may be considered in certain situations:

• If one or both parents are likely carriers of a GALC gene mutation because of a known family history of Krabbe disease, a couple may want to have tests to understand the risks in their own family.
• If one child is diagnosed with Krabbe disease, a family may consider genetic tests to identify other children who could develop the disease later in life.
• If the parents are known carriers, they may request a prenatal genetic test to determine if their child is likely to develop the disease.
• Known carriers, who are using in vitro fertilization, may request a genetic test with fertilized eggs before implantation.

Genetic testing should be carefully considered. Ask your doctor about genetic counseling services that can help you understand the benefits, limits and implications of genetic testing.

COMPLICATIONS

A number of complications — including infections and respiratory difficulties — can develop in children with advanced Krabbe disease. In the later stages of the disease, children become incapacitated, are confined to their beds and eventually lapse into a vegetative state.

Most children who develop Krabbe disease in infancy die before the age of 2, most often from respiratory failure or complications of immobility and markedly decreased muscle tone. Children who develop the disease later in childhood may have a somewhat longer life expectancy, usually between two and seven years after diagnosis.

PREPARING FOR YOUR APPOINTMENT

In some cases, Krabbe disease is diagnosed in newborns with screening tests before symptoms appear. Conversations with your child's doctor and a specialist in nervous system disorders (neurologist) would begin as soon as a diagnosis is confirmed. In most cases, however, the onset of symptoms triggers an exploration of possible causes.

Well-baby visits

It's important to take your child to all regularly scheduled well-baby visits and annual appointments during childhood. These visits are an opportunity for your child's doctor to monitor your child's development in key areas, including:

• Growth
• Muscle tone
• Muscle strength
• Coordination
• Posture
• Age-appropriate motor skills
• Sensory abilities — vision, hearing and touch

Questions you should be prepared to answer during regular checkups might include the following:

• What concerns do you have about your child's growth or development?
• How well does he or she eat?
• How does your child respond to touch?
• Is your child reaching certain milestones in development, such as rolling over, pushing up, sitting up, crawling, walking or speaking?

Preparing for other doctor visits

If you're seeing your doctor because of the recent onset of symptoms, you'll likely start by seeing your general practitioner or your child's pediatrician. After an initial evaluation, your doctor may refer you to a neurologist.

Be prepared to answer the following questions about your symptoms or on your child's behalf:

• What signs or symptoms have you noticed? When did they begin?
• Have these signs or symptoms changed over time?
• Do you notice any changes in your child's attentiveness?
• Has your child had a fever?
• Have you noticed unusual or excessive irritability?
• Have you noticed changes in eating habits?

Questions especially for older children or adults may include:

• Has your child experienced any changes in school performance?
• Have you experienced difficulty with normal tasks or job-related work?
• Are you or is your child being treated for any other medical conditions?
• Have you or your child recently begun a new medication?

TESTS AND DIAGNOSIS

Your doctor will conduct a general physical exam and assess signs and symptoms that may indicate a neurological disease. A diagnosis of Krabbe disease is based on a series of tests, which may include the following.

Laboratory tests

A blood sample and small skin sample (biopsy) will be sent to a laboratory to assess the level of GALC enzyme activity. Very low or no GALC activity level may indicate Krabbe disease.

Although the results help a doctor make a diagnosis, they don't provide evidence of how quickly the disease may progress. For example, very low GALC activity doesn't always mean that the condition will advance rapidly.

Imaging tests

Your doctor may order one or more imaging tests that can detect the loss of myelin (demyelination) in affected regions of the brain. These may include:

• Magnetic resonance imaging (MRI), a technology that uses radio waves and a magnetic field to produce detailed 3-D images
• Computerized tomography (CT), a specialized X-ray technology that produces 2-D images

Nerve conduction study

A nerve conduction study assesses the rate at which nerves conduct a signal — essentially how quickly can they send a message. A special device measures the time it takes an electrical impulse to travel from one point on the body to another. When myelin is impaired, nerve conduction is slower.

Genetic testing

A genetic test may be done with a blood sample to confirm a diagnosis. There are variant forms of the mutated gene that results in Krabbe disease. The particular type of mutation may provide some clues regarding the expected course of the disease.

Newborn screening

In some states, a screening test for Krabbe disease is part of a standard set of assessments for newborns. The initial screening test measures GALC enzyme activity. If the enzyme activity is found to be low, follow-up GALC tests and genetic tests are conducted.

The use of newborn screening tests is relatively new. Researchers are still working to understand how best to use these tests, how well the tests lead to an accurate diagnosis and how well they predict the course of the disease.

TREATMENTS AND DRUGS

For infants who have already developed symptoms of Krabbe disease, there is currently no treatment that can change the course of the disease. Treatment, therefore, focuses on managing symptoms and providing supportive care. Interventions may include the following:

• Anticonvulsant medications to manage seizures
• Drugs to ease muscle spasticity and irritability
• Physical therapy to minimize deterioration of muscle tone
• Nutritional support, such as the use of a tube to deliver fluids and nutrients directly into the stomach (gastric tube)

Interventions for older children or adults with less severe forms of the disease may include:

• Physical therapy to minimize deterioration of muscle tone
• Occupational therapy to achieve as much independence as possible with daily activities

Stem cell transplantation

Hematopoietic stem cells are specialized cells that can develop into all of the different types of blood cells in the body. These stem cells are also the source of microglia, specialized debris-eating cells that take up residence in the nervous system. In Krabbe disease, microglia are transformed into toxic globoid cells.

In stem cell transplantation, donor stem cells are delivered into the recipient's bloodstream through a tube called a central venous catheter. The donor stem cells help the body produce healthy microglia that can populate the nervous system and deliver functioning GALC enzymes. This treatment may help restore some degree of normal myelin production and maintenance.

This therapy may improve outcomes in infants if treatment begins before the onset of symptoms — that is, when a diagnosis results from a newborn screening test.

Presymptomatic infants receiving a stem cell transplant have had slower disease progression, but these children still experience significant difficulties with speech, walking and other motor skills.

Older children and adults with mild symptoms also may benefit from this treatment.

Sources for hematopoietic stem cells include:

• Umbilical cord blood
• Donor bone marrow
• Donor circulating (peripheral) blood stem cells

LIFESTYLE AND HOME REMEDIES

Krabbe (KRAH-buh) disease is an inherited disorder that destroys the protective coating (myelin) of nerve cells in the brain and throughout the nervous system.

In most cases, signs and symptoms of Krabbe disease develop in babies before 6 months of age, and the disease usually results in death by age 2. When it develops in older children and adults, the course of the disease can vary greatly.

There's no cure for Krabbe disease, and treatment focuses on supportive care. However, stem cell transplants have shown some success in infants who are treated before the onset of symptoms and in some older children and adults.

Krabbe disease affects about 1 in 100,000 people in the United States. It is also known as globoid cell leukodystrophy.

Niemann-Pick disease

DEFINITION

Niemann-Pick disease primarily affects children, although it can occur at any age. Types A, B and C all affect the body's ability to metabolize fat (cholesterol and lipids) within cells. When cholesterol and other lipids accumulate in large amounts within cells, they cause cell dysfunction and ultimately cell death. Niemann-Pick disease can affect the brain, nerves, liver, spleen and bone marrow and, in severe cases, the lungs. Progressive deterioration of the brain, nerves and organs cause the main symptoms. Niemann-Pick is an inherited disease with no known cure, but research continues.

SYMPTOMS

Niemann-Pick disease primarily affects children, although it can occur at any age. Types A, B and C all affect the body's ability to metabolize fat (cholesterol and lipids) within cells. When cholesterol and other lipids accumulate in large amounts within cells, they cause cell dysfunction and ultimately cell death. Niemann-Pick disease can affect the brain, nerves, liver, spleen and bone marrow and, in severe cases, the lungs. Progressive deterioration of the brain, nerves and organs cause the main symptoms. Niemann-Pick is an inherited disease with no known cure, but research continues.

CAUSES

Niemann-Pick disease primarily affects children, although it can occur at any age. Types A, B and C all affect the body's ability to metabolize fat (cholesterol and lipids) within cells. When cholesterol and other lipids accumulate in large amounts within cells, they cause cell dysfunction and ultimately cell death. Niemann-Pick disease can affect the brain, nerves, liver, spleen and bone marrow and, in severe cases, the lungs. Progressive deterioration of the brain, nerves and organs cause the main symptoms. Niemann-Pick is an inherited disease with no known cure, but research continues.

RISK FACTORS

Niemann-Pick disease primarily affects children, although it can occur at any age. Types A, B and C all affect the body's ability to metabolize fat (cholesterol and lipids) within cells. When cholesterol and other lipids accumulate in large amounts within cells, they cause cell dysfunction and ultimately cell death. Niemann-Pick disease can affect the brain, nerves, liver, spleen and bone marrow and, in severe cases, the lungs. Progressive deterioration of the brain, nerves and organs cause the main symptoms. Niemann-Pick is an inherited disease with no known cure, but research continues.

COMPLICATIONS

Niemann-Pick disease primarily affects children, although it can occur at any age. Types A, B and C all affect the body's ability to metabolize fat (cholesterol and lipids) within cells. When cholesterol and other lipids accumulate in large amounts within cells, they cause cell dysfunction and ultimately cell death. Niemann-Pick disease can affect the brain, nerves, liver, spleen and bone marrow and, in severe cases, the lungs. Progressive deterioration of the brain, nerves and organs cause the main symptoms. Niemann-Pick is an inherited disease with no known cure, but research continues.

PREPARING FOR YOUR APPOINTMENT

Niemann-Pick disease primarily affects children, although it can occur at any age. Types A, B and C all affect the body's ability to metabolize fat (cholesterol and lipids) within cells. When cholesterol and other lipids accumulate in large amounts within cells, they cause cell dysfunction and ultimately cell death. Niemann-Pick disease can affect the brain, nerves, liver, spleen and bone marrow and, in severe cases, the lungs. Progressive deterioration of the brain, nerves and organs cause the main symptoms. Niemann-Pick is an inherited disease with no known cure, but research continues.

TESTS AND DIAGNOSIS

Niemann-Pick disease primarily affects children, although it can occur at any age. Types A, B and C all affect the body's ability to metabolize fat (cholesterol and lipids) within cells. When cholesterol and other lipids accumulate in large amounts within cells, they cause cell dysfunction and ultimately cell death. Niemann-Pick disease can affect the brain, nerves, liver, spleen and bone marrow and, in severe cases, the lungs. Progressive deterioration of the brain, nerves and organs cause the main symptoms. Niemann-Pick is an inherited disease with no known cure, but research continues.

TREATMENTS AND DRUGS

Niemann-Pick disease primarily affects children, although it can occur at any age. Types A, B and C all affect the body's ability to metabolize fat (cholesterol and lipids) within cells. When cholesterol and other lipids accumulate in large amounts within cells, they cause cell dysfunction and ultimately cell death. Niemann-Pick disease can affect the brain, nerves, liver, spleen and bone marrow and, in severe cases, the lungs. Progressive deterioration of the brain, nerves and organs cause the main symptoms. Niemann-Pick is an inherited disease with no known cure, but research continues.

LIFESTYLE AND HOME REMEDIES

Niemann-Pick disease primarily affects children, although it can occur at any age. Types A, B and C all affect the body's ability to metabolize fat (cholesterol and lipids) within cells. When cholesterol and other lipids accumulate in large amounts within cells, they cause cell dysfunction and ultimately cell death. Niemann-Pick disease can affect the brain, nerves, liver, spleen and bone marrow and, in severe cases, the lungs. Progressive deterioration of the brain, nerves and organs cause the main symptoms. Niemann-Pick is an inherited disease with no known cure, but research continues.

TRYPOPHOBIA | Fear Of Holes

Definition 

TRYPOPHOBIA is a pathological fear of holes, particular those that are clustered together in a pattern. Trypophobia was coined in 2005 and derives its name from the Greek τρύπα (trýpa) “hole” and φόβος (phóbos) “fear”. According to Cole and Wilkins (2015) trypophobia is a “fear of holes” in which “Sufferers report aversion to visual stimuli comprising particular configuration of holes. The stimuli are usually clusters of holes of any variety that are almost always innocuous and seemingly pose no threat” . The phobia itself claims many sufferers although not currently recognized by the American Psychiatric Association’s Diagnostic and Statistical Manual of Mental Disorders (DSM), or any other scientific literature. 

Kleptomania | Impulse control disorder

DEFINITION

Kleptomania is the irresistible urge to steal items that you generally don't really need and that usually have little value. Kleptomania (klep-toe-MAY-knee-uh) is a serious mental health disorder that can cause much emotional pain to you and your loved ones if not treated.

Kleptomania is a type of impulse control disorder — a disorder in which you can't resist the temptation or drive to perform an act that's harmful to you or someone else. 

Many people with kleptomania live lives of secret shame because they're afraid to seek mental health treatment. Although there's no cure for kleptomania, treatment with medication or psychotherapy may be able to help end the cycle of compulsive stealing.

SYMPTOMS

Kleptomania symptoms may include:

• Powerful urges to steal items that you don't need 
• Feeling increased tension leading up to the theft 
• Feeling pleasure or gratification while stealing 
• Feeling terrible guilt or shame after the theft 

A powerful urge

Unlike typical shoplifters, people with kleptomania don't compulsively steal for personal gain. Nor do they steal as a way to exact revenge. They steal simply because the urge is so powerful that they can't resist it. This urge makes them feel uncomfortably anxious, tense or aroused. To soothe these feelings, they steal.

During the theft, they feel relief and gratification. Afterward, though, they may feel enormous guilt, remorse, self-loathing and fear of arrest. But the urge comes back, and the kleptomania cycle repeats itself.

Spontaneous occurrences and public places
Episodes of kleptomania generally occur spontaneously, without planning. Most people with kleptomania steal from public places, such as stores and supermarkets. Some may steal from friends or acquaintances, such as at a party. Often, the stolen items have no value to the person with kleptomania. The stolen items are usually stashed away, never to be used. Items may also be donated, given away to family or friends, or even secretly returned to the place from which they were stolen. 

When to see a doctor

If you can't stop shoplifting or stealing, seek medical advice. Many people who may have kleptomania don't want to seek treatment because they're afraid they'll be arrested or jailed. A mental health provider doesn't have to report your thefts to authorities, however. Getting treatment may help you gain control over your kleptomania.

If a loved one has kleptomania

If you suspect a close friend or family member may have kleptomania, gently raise your concerns with your loved one. Keep in mind that kleptomania is a mental health condition, not a character flaw, and approach your loved one without blame or accusation.

It may be helpful to emphasize the following points:

• You're concerned because you care about your loved one's health and well-being. 
• You're worried about the risks of compulsive stealing, such as being arrested, losing a job or damaging a valued relationship. 
• You understand that, with kleptomania, the urge to steal may be too strong to resist just by \"putting your mind to it.\" 
• Effective treatments are available to minimize the urge to steal and help your loved one live without addiction and shame. 

If you need help preparing for this conversation, talk with your doctor. He or she may refer you to a mental health provider who can help you plan a way of raising your concerns without making your loved one feel defensive or threatened.

CAUSES

The cause of kleptomania isn't known. There are several theories that suggest that changes in the brain may be at the root of kleptomania. Kleptomania may be linked to problems with a naturally occurring brain chemical (neurotransmitter) called serotonin. Serotonin helps regulate moods and emotions. Low levels of serotonin are common in people prone to impulsive behaviors.

Kleptomania also may be related to addictive disorders, and stealing may cause the release of dopamine (another neurotransmitter). Dopamine causes pleasurable feelings, and some people seek this rewarding feeling again and again.

Other research has found that kleptomania can occur after someone sustains a head injury. More research is needed to better understand all of these possible causes of kleptomania.

RISK FACTORS

Kleptomania is considered uncommon. However because many people with kleptomania never seek treatment, or they're simply jailed after repeated thefts, many cases of kleptomania may never be diagnosed. It's thought that fewer than 5 percent of shoplifters have kleptomania. Kleptomania often begins during adolescence or in young adulthood, but in rare cases it begins after 50 years of age.

Kleptomania risk factors may include:

• Family history. Having a first-degree blood relative, such as a parent or sibling, with kleptomania or obsessive-compulsive disorder may increase your risk of kleptomania. 
• Being female. Approximately two-thirds of people with known kleptomania are women. 
• Having another mental illness. People with kleptomania often have other mental illnesses, such as bipolar disorder, anxiety disorder, eating disorders, substance abuse or personality disorders. 
• Head trauma or brain injuries. People who've experienced a head trauma may develop kleptomania. 

COMPLICATIONS

Left untreated, kleptomania can result in severe emotional, legal and financial problems. For example, many people with known kleptomania have been arrested for shoplifting. Because you know stealing is wrong but you feel powerless to resist the impulse, you may be wracked by guilt, shame, self-loathing and humiliation. You may otherwise lead a moral, upstanding life and be confused and upset by your compulsive stealing.

Complications that kleptomania may cause or be associated with include:

• Arrest 
• Imprisonment 
• Depression 
• Alcohol and substance abuse 
• Eating disorders 
• Anxiety 
• Compulsive gambling or shopping 
• Suicidal thoughts or behavior 
• Social isolation 

PREPARING FOR YOUR APPOINTMENT

If you struggle with an irresistible urge to steal, call your doctor. Making that call will undoubtedly be scary, but trust that your doctor is interested in caring for your health, not in judging you. Your doctor may refer you to a mental health provider, such as a psychiatrist, with experience diagnosing and treating kleptomania.

Use the information below to prepare for your first appointment and learn what to expect from the mental health provider.

What you can do:

• Write down any symptoms you're experiencing, and for how long. It will help the mental health provider to know what kinds of events seem to trigger your urge to steal. 
• Write down key personal information,including traumatic events in your past and any current, major stressors. 
• Make a list of your medical information, including other physical or mental health conditions with which you've been diagnosed. Also write down the names of any medications or supplements you're taking. 
• Take a trusted family member or friend along, if possible. It can be difficult to remember everything your mental health provider says, and a loved one can help remember the details. In addition, someone who has known you for a long time may be able to ask questions or share information with the mental health provider that you don't remember to bring up. 
• Write down questions to ask your mental health provider in advance so that you can make the most of your appointment. 

For kleptomania, some basic questions to ask your mental health provider include:

• Why can't I stop stealing? 
• What treatments are available? 
• What treatments are most likely to work for me? 
• How quickly will I stop stealing? 
• Will I still feel the urge to steal? 
• How often do I need therapy sessions, and for how long? 
• Would family therapy be helpful in my case? 
• Are there medications that can help? 
• What are the possible side effects of these medications? 
• I have these other health conditions. How can I best manage these conditions together? 
• Are there any brochures or other printed material that I can take home with me? What websites do you recommend visiting? 

What to expect from your mental health provider

The mental health provider will likely ask you a number of questions to better understand your symptoms and how they're affecting your life. The mental health provider may ask:

• At what age did you first experience an irresistible urge to steal? 
• How often do you experience the urge to steal? 
• Have you ever been caught or arrested for stealing? 
• How would you describe your feelings before, during and after you steal something? 
• What kinds of items do you steal? Are they things you need? 
• From whom do you steal? 
• What do you do with the items you steal? 
• Does anything in particular seem to trigger your urge to steal? 
• How would you say your urge to steal is affecting your life, including school, work and personal relationships? 
• Have any of your close relatives had a problem with compulsive stealing, or with other mental health conditions such as depression, addiction or obsessive-compulsive disorder? 
• Have you been treated for any other mental health problems, including eating disorders? If yes, what treatments were most effective? 
• Do you use alcohol or illegal drugs? How often? 
• Are you currently being treated for any other medical conditions? 

TESTS AND DIAGNOSIS

When you decide to seek treatment for symptoms of possible kleptomania, you may have both a physical and psychological evaluation. The physical exam can determine if there may be any physical causes triggering your symptoms.

There's no laboratory test to diagnose kleptomania. Instead, kleptomania is diagnosed based on your signs and symptoms. Kleptomania is a type of impulse control disorder. In addition to asking questions about your impulses and how they make you feel, your doctor may review a list of situations to see if they trigger kleptomania episodes. You may also fill out psychological questionnaires or self-assessments to help pinpoint a diagnosis.

To be diagnosed with kleptomania, you must meet criteria spelled out in the Diagnostic and Statistical Manual of Mental Disorders (DSM). This manual is published by the American Psychiatric Association and is used by mental health professionals to diagnose mental conditions and by insurance companies to reimburse for treatment. Criteria for a kleptomania diagnosis include:

• You have an inability to resist urges to steal objects that aren't needed for personal use or monetary value 
• You feel increasing tension leading up to the theft 
• You sense feelings of pleasure, relief or gratification during the act of stealing 
• The theft isn't committed as a way to exact revenge or to express anger, and isn't done while hallucinating or delusional 
• The stealing isn't related to manic episodes of bipolar disorder or other mental health disorders, such as antisocial personality disorder 

TREATMENTS AND DRUGS

Although fear, humiliation or embarrassment may make it difficult for you to seek treatment for kleptomania, it's important to get help. Kleptomania is difficult to overcome on your own. Treatment of kleptomania typically involves medications and psychotherapy, perhaps along with self-help groups. However, there's no standard kleptomania treatment, and researchers are still trying to understand what may work best. You may have to try several types of kleptomania treatment to find something that works well for your situation.

Medications

There's little solid scientific research about using psychiatric medications to treat kleptomania. However, certain medications may be helpful. Which medication is best for you depends on your overall situation and other conditions you may have, such as depression or obsessive-compulsive disorder. You may benefit from taking a combination of medications. Medications to consider include:

• Antidepressants. Selective serotonin reuptake inhibitors (SSRIs) are commonly used to treat kleptomania. These include fluoxetine (Prozac, Prozac Weekly), paroxetine (Paxil, Paxil CR), fluvoxamine (Luvox, Luvox CR) and others. 
• Mood stabilizers. These medications are meant to even out your mood so that you don't have rapid or uneven changes that may trigger urges to steal. One mood stabilizer used to treat kleptomania is lithium (Lithobid). 
• Anti-seizure medications. Although originally intended for seizure disorders, these medications have shown benefits in certain mental health disorders, possibly including kleptomania. Examples include topiramate (Topamax) and valproic acid (Depakene, Stavzor). 
• Addiction medications. Naltrexone (Revia, Vivitrol), known technically as an opioid antagonist, blocks the part of your brain that feels pleasure with certain addictive behaviors. It may reduce the urges and pleasure associated with stealing. 

You may have to try several different medications or combinations of medications to see what works best for you with the fewest side effects. Keep in mind that it may take several weeks to notice full benefits. Talk to your doctor or mental health provider if you're bothered by side effects. Under his or her guidance, you may be able to switch medications or change your dosage. Many side effects eventually go away.

Psychotherapy

Cognitive behavioral therapy has become the psychotherapy of choice for kleptomania. In general, cognitive behavioral therapy helps you identify unhealthy, negative beliefs and behaviors and replace them with healthy, positive ones. Cognitive behavioral therapy may include these techniques to help you overcome kleptomania urges:

• Covert sensitization, in which you picture yourself stealing and then facing negative consequences, such as being caught 
• Aversion therapy, in which you practice mildly painful techniques, such as holding your breath until you become uncomfortable, when you get an urge to steal 
• Systematic desensitization, in which you practice relaxation techniques and picture yourself controlling urges to steal 

Other forms of therapy, such as psychodynamic therapy, family therapy or marriage counseling, also may be helpful.

Avoiding relapses

It's not unusual to have relapses of kleptomania. To help avoid relapses, be sure to stick to your treatment plan. If you feel urges to steal, contact your mental health provider or reach out to a trusted support group.

LIFESTYLE AND HOME REMEDIES

Kleptomania is the irresistible urge to steal items that you generally don't really need and that usually have little value. Kleptomania (klep-toe-MAY-knee-uh) is a serious mental health disorder that can cause much emotional pain to you and your loved ones if not treated.

Kleptomania is a type of impulse control disorder — a disorder in which you can't resist the temptation or drive to perform an act that's harmful to you or someone else.

Many people with kleptomania live lives of secret shame because they're afraid to seek mental health treatment. Although there's no cure for kleptomania, treatment with medication or psychotherapy may be able to help end the cycle of compulsive stealing.

Intussusception

DEFINITION

Intussusception (in-tuh-suh-SEP-shun) is a serious disorder in which part of the intestine slides into an adjacent part of the intestine. This \"telescoping\" often blocks food or fluid from passing through. Intussusception also cuts off the blood supply to the part of the intestine that's affected. Intussusception can lead to a tear in the bowel (perforation), infection and death of bowel tissue. 

Intussusception is the most common cause of intestinal obstruction in children younger than 3. Intussusception is rare in adults. Most cases of adult intussusception are the result of an underlying medical condition, such as a tumor. In contrast, the cause of most cases of intussusception in children is unknown.

In children, the intestines can usually be pushed back into position with an X-ray procedure. In adults, surgery is often required to correct the problem.

SYMPTOMS

The first sign of intussusception in an otherwise healthy infant may be sudden, loud crying caused by abdominal pain. Infants who have abdominal pain may pull their knees to their chests when they cry. The pain of intussusception comes and goes, usually every 15 to 20 minutes at first. These painful episodes last longer and happen more often as time passes.

Other frequent signs and symptoms of intussusception include:

• Stool mixed with blood and mucus (sometimes referred to as \"currant jelly\" stool because of its appearance) 
• Vomiting 
• A lump in the abdomen 
• Lethargy 

Less common signs and symptoms include:

• Diarrhea 
• Fever 
• Constipation 

Some infants have no obvious pain, don't pass blood or have a lump in the abdomen. Some older children have pain but no other symptoms.

Adults

Because intussusception is rare in adults and symptoms of the disorder are often nonspecific, it is more challenging to identify. Abdominal pain is the most common symptom, followed by nausea and vomiting and diarrhea. A significant percentage of people have no signs and symptoms.

When to see a doctor

Intussusception requires emergency medical care. If you or your child develops the signs or symptoms listed above, seek medical help right away.

In infants, remember that signs of abdominal pain may include recurrent bouts of pulling the knees to the chest and crying.

CAUSES

Your intestine is shaped like a long tube. In intussusception, one part of your intestine — usually the small intestine — slides inside an adjacent part. This is sometimes called telescoping because it's similar to the way a collapsible telescope folds together.

In some cases, the telescoping is caused by an abnormal growth in the intestine, such as a polyp or a tumor (called a lead point). The normal wave-like contractions of the intestine grab this lead point and pull it and the lining of the intestine into the bowel ahead of it. In most cases, however, no cause can be identified for intussusception.

Children

In the vast majority of cases of intussusception in children, the cause is unknown. Because intussusception seems to occur more often in the fall and winter and because many children with the problem also have flu-like symptoms, some suspect a virus may play a role in the condition. In a few instances, a lead point is identified as the cause of the condition — most frequently Meckel's diverticulum (a pouch in the lining of the small intestine).

Adults

In adults, intussusception is usually the result of a medical condition, such as:

• A tumor 
• Scar-like tissue in the intestine (adhesions) 
• Surgical scars in the small intestine or colon 
• Hematoma 
• Inflammation, such as from Crohn's disease 

RISK FACTORS

Risk factors for intussusception include:

• Age. Children are much more likely to develop intussusception than adults are. It's the most common cause of bowel obstruction in children between the ages of 6 months and 3 years. 
• Sex. Intussusception more often affects boys. 
• Abnormal intestinal formation at birth. A condition present at birth (congenital) in which the intestine doesn't develop correctly (malrotation) also is a risk factor for intussusception. 
• A prior history of intussusception.Once you've had intussusception, you're at increased risk to develop it again. 
• AIDS. There is some evidence of an increased incidence of intussusception in people with acquired immune deficiency syndrome. 

COMPLICATIONS

Intussusception can cut off the blood supply to the affected portion of the intestine. If left untreated, lack of blood causes tissue of the intestinal wall to die. Tissue death can lead to a tear (perforation) in the intestinal wall, which can cause an infection of the lining of the abdominal cavity (peritonitis).

Peritonitis is a life-threatening condition that requires immediate medical attention. Signs and symptoms of peritonitis include:

• Abdominal pain 
• Abdominal swelling 
• Fever 
• Thirst 
• Low urine output 

Peritonitis may cause your child to go into shock. Signs and symptoms of shock include:

• Cool, clammy skin that may be pale or gray 
• A weak and rapid pulse 
• Abnormal breathing that may be either slow and shallow or very rapid 
• Lackluster eyes that seem to stare blankly 
• Profound listlessness 

A child who is in shock may be conscious or unconscious. If you suspect your child is in shock, seek emergency medical care right away.

PREPARING FOR YOUR APPOINTMENT

Emergency medical care is required to treat intussusception. You may not have much time to prepare for an appointment.

What to expect from your doctor

Your child's doctor is likely to ask you a number of questions, including:

• When did your child begin experiencing abdominal pain or other symptoms? 
• Does your child's pain appear to be continuous — or is it occurring off and on? 
• Does the pain begin and end suddenly? 
• Has your child experienced nausea, vomiting or diarrhea? 
• Have you noticed any blood in your child's stool? 
• Have you noticed any swelling or a lump in your child's abdomen? 

What you can do in the meantime

Don't give your child any over-the-counter medications to treat symptoms before the appointment.

TESTS AND DIAGNOSIS

Your or your child's doctor will start by getting a history of the symptoms of the problem. He or she may be able to feel a sausage-shaped lump in the abdomen. To confirm the diagnosis, your doctor may order:

• Ultrasound or other abdominal imaging. An ultrasound, X-ray or computerized tomography (CT) scan may reveal intestinal obstruction caused by intussusception. Imaging will typically show a \"bull's eye,\" representing the intestine coiled within the intestine. Abdominal imaging also can show if the intestine has been torn (perforated). 
• Air or barium enema. An air or barium enema is basically a colon X-ray. During the procedure, the doctor will insert air (the preferred choice in most cases) or liquid barium into the colon through the rectum. This makes the images on the X-ray clearer. An air or barium enema will fix intussusception 90 percent of the time in children, and no further treatment is needed. A barium enema can't be used if the intestine is torn. 

TREATMENTS AND DRUGS

Treatment of intussusception typically happens as a medical emergency. Emergency medical care is required to avoid severe dehydration and shock, as well as prevent infection that can occur when a portion of intestine dies due to lack of blood.

Initial care

When your child arrives at the hospital, the doctors will first stabilize his or her medical condition. This includes:

• Giving your child fluids through an intravenous (IV) line 
• Helping the intestines decompress by putting a tube through the child's nose and into the stomach (nasogastric tube) 

Correcting the intussusception

To treat the problem, your doctor may recommend:

• A barium or air enema. This is both a diagnostic procedure and a treatment. If an enema works, further treatment is usually not necessary. This treatment is highly effective in children, but rarely used in adults. Intussusception recurs as often as 15 to 20 percent of the time and the treatment will have to be repeated. 
• Surgery. If the intestine is torn, if an enema is unsuccessful in correcting the problem or if a lead point is the cause, surgery is necessary. The surgeon will free the portion of the intestine that is trapped, clear the obstruction and, if necessary, remove any of the intestinal tissue that has died. Surgery is the main treatment for adults and for people who are acutely ill. 

In some cases, intussusception may be temporary and go away without treatment.

LIFESTYLE AND HOME REMEDIES

Intussusception (in-tuh-suh-SEP-shun) is a serious disorder in which part of the intestine slides into an adjacent part of the intestine. This \"telescoping\" often blocks food or fluid from passing through. Intussusception also cuts off the blood supply to the part of the intestine that's affected. Intussusception can lead to a tear in the bowel (perforation), infection and death of bowel tissue.

Intussusception is the most common cause of intestinal obstruction in children younger than 3. Intussusception is rare in adults. Most cases of adult intussusception are the result of an underlying medical condition, such as a tumor. In contrast, the cause of most cases of intussusception in children is unknown.

In children, the intestines can usually be pushed back into position with an X-ray procedure. In adults, surgery is often required to correct the problem.

Ichthyosis vulgaris | skin disorder

DEFINITION

Ichthyosis vulgaris (ik-thee-O-sis vul-GAY-ris) is an inherited skin disorder in which dead skin cells accumulate in thick, dry scales on your skin's surface.

The scales of ichthyosis vulgaris, sometimes called fish scale disease or fish skin disease, can be present at birth, but usually first appear during early childhood. Sometimes, mild cases of ichthyosis vulgaris go undiagnosed because they're mistaken for extremely dry skin. 

Most cases of ichthyosis vulgaris are mild, but some are severe. Sometimes other skin diseases, such as the allergic skin condition eczema, are associated with ichthyosis vulgaris. No cure has been found for ichthyosis vulgaris, and treatments focus on controlling the condition.

SYMPTOMS

Ichthyosis vulgaris slows your skin's natural shedding process. This causes chronic, excessive buildup of the protein in the upper layer of the skin (keratin). Symptoms include:

• Dry, scaly skin 
• Tile-like, small scales 
• Scales colored white, dirty gray or brown — with darker colored scales typically on darker skin 
• Flaky scalp 
• Deep, painful cracks in your skin 

The scales usually appear on your elbows and lower legs and may be especially thick and dark over your shins. Most cases of ichthyosis vulgaris are mild, but some can be severe. The severity of symptoms may vary widely among family members who have the condition.

Symptoms usually worsen or are more pronounced in cold, dry environments and tend to improve or even resolve in warm, humid environments.

When to see a doctor

If you suspect you or your child has ichthyosis, talk to your family doctor or a dermatologist. He or she can diagnose the condition by examining the characteristic scales. Also, be sure to seek medical advice if the symptoms worsen or don't improve with self-care measures. You may need stronger medication to manage the condition.

CAUSES

Ichthyosis vulgaris is commonly caused by a genetic mutation that's inherited from one or both parents. Children who inherit a defective gene from just one parent have a milder form of the disease, while those who inherit two defective genes have a more severe form of ichthyosis vulgaris. Children with the inherited form of the disorder usually have normal skin at birth, but develop scaling and roughness during the first few years of life.

If genetic abnormalities aren't responsible for ichthyosis, it's referred to as acquired ichthyosis. This rare type often begins in adulthood. It's usually associated with other diseases, such as cancer, thyroid disease or HIV/AIDS.

RISK FACTORS

Ichthyosis vulgaris (ik-thee-O-sis vul-GAY-ris) is an inherited skin disorder in which dead skin cells accumulate in thick, dry scales on your skin's surface.

The scales of ichthyosis vulgaris, sometimes called fish scale disease or fish skin disease, can be present at birth, but usually first appear during early childhood. Sometimes, mild cases of ichthyosis vulgaris go undiagnosed because they're mistaken for extremely dry skin.

Most cases of ichthyosis vulgaris are mild, but some are severe. Sometimes other skin diseases, such as the allergic skin condition eczema, are associated with ichthyosis vulgaris. No cure has been found for ichthyosis vulgaris, and treatments focus on controlling the condition.

COMPLICATIONS

Some people with ichthyosis may experience:

• Overheating. In rare cases, the skin thickness and scales of ichthyosis can interfere with sweating. This can inhibit cooling. 
• Secondary infection. Skin splitting and cracking may lead to infections. 

PREPARING FOR YOUR APPOINTMENT

If the appointment is for your child, you're likely to start by seeing your child's pediatrician. If the appointment is for you, you're likely to start by seeing your primary care doctor. He or she may refer you or your child to a specialist in skin conditions (dermatologist).

Here's some information to help you prepare for the appointment.

What you can do

• Write down any symptoms your child or you are experiencing, including any that may seem unrelated to the reason for which you scheduled the appointment. 
• Write down key personal information,including any major stresses or recent life changes. 
• Make a list of all medications, vitamins or supplements you or your child is taking. 
• Write down questions to ask your doctor. 

Preparing a list of questions for your doctor will help you make the most of your time together. List your questions from most important to least important. For ichthyosis vulgaris, some basic questions to ask your doctor include:

• What's the most likely cause of these symptoms? 
• Are there other possible causes? 
• What kinds of tests do I or my child need? 
• Is the condition likely temporary or long lasting? 
• What treatments are available and which do you recommend? 
• Are there any brochures or other printed material that I can take home with me? What websites do you recommend? 

What to expect from your doctor

Your doctor is likely to ask you a number of questions, including:

• When did your symptoms first appear? 
• Have the symptoms been continuous or do they come and go? 
• What, if anything, seems to improve the symptoms? 
• What, if anything, appears to worsen the symptoms? 
• Does anyone in your immediate or extended family have similar skin changes? 

What you can do in the meantime

To help soothe your or your child's skin:

• Wash only with mild soaps that have added oils and fats. Avoid strongly scented and antibacterial soaps, which are especially harsh on dry skin. 
• Apply moisturizer or lubricating cream while your or your child's skin is still moist from bathing. Choose a moisturizer that contains urea or propylene glycol — chemicals that help keep your skin moist. Petroleum jelly is another good choice. Cover the treated areas with plastic wrap to keep the petroleum jelly from staining clothes and furniture. 

TESTS AND DIAGNOSIS

A doctor can often make a diagnosis by examining your skin and the characteristic scales. If there's any doubt, he or she may perform other tests, such as a skin biopsy. This may be necessary to rule out other causes of dry, scaly skin.

TREATMENTS AND DRUGS

There's no known cure for ichthyosis, so the goal of treatment is to manage the condition.

Medications

Treatments may include:

• Alpha hydroxy acids, such as lactic acid and glycolic acid. Treatment can include prescription creams and ointments that contain acids that help control scaling and increase skin moisture. 
• Retinoids. Your doctor may prescribe these vitamin A-derived medications in severe cases. They reduce the production of skin cells. Side effects from the medication may include eye and lip inflammation, bone spurs and hair loss. Retinoids may cause birth defects. Women considering retinoid therapy should be sure they are not pregnant before starting the medication — and use effective birth control while taking retinoids. 

LIFESTYLE AND HOME REMEDIES

Although self-help measures won't cure ichthyosis, they may help improve the appearance and feel of damaged skin. Consider these measures to help:

• Take long soaking baths to soften the skin. Then use a rough-textured sponge, such as a loofa sponge, to remove the thickened scales. 
• Choose mild soaps that have added oils and fats. Avoid strongly scented and antibacterial soaps, which are especially harsh on dry skin. 
• After showering or bathing, gently pat or blot your skin dry with a towel so that some moisture remains on the skin. 
• Apply moisturizer or lubricating cream while your skin is still moist from bathing. Choose a moisturizer that contains urea or propylene glycol — chemicals that help keep your skin moist. Petroleum jelly is another good choice. Cover the treated areas with plastic wrap to keep the petroleum jelly from staining clothes and furniture. 
• Apply an over-the-counter product that contains urea, lactic acid or a low concentration of salicylic acid twice daily. Mild acidic compounds help your skin shed its dead skin cells. Urea helps bind moisture to your skin. 
• Use a portable home humidifier or one attached to your furnace to add moisture to the air inside your home.