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Showing posts with label Rare Conditions. Show all posts
Showing posts with label Rare Conditions. Show all posts

Wednesday, February 25, 2009

Unique liver transplant in Delhi

Twenty specialists helped in 16-hour operation at Sir Ganga Ram Hospital

feb20-dbnp.jpg
Shourya Verma, with Dr. A. S. Soin (left), and Siya Thakur, with Sir Ganga Ram Hospital’s chief paediatric hepatologist Dr. Neelam Mohan, during a press conference in the Capital on Thursday to announce the country’s first-ever domino liver transplant.

NEW DELHI: Doctors at Sir Ganga Ram Hospital here have performed a domino liver transplant, a unique procedure in which two life-saving liver transplants are performed using one donor liver.

While 22-month-old Shourya was cured of maple syrup urine diseases (MSUD) by a transplant performed using 20 per cent of his aunt’s liver, his own liver was in turn transplanted into two-year-old Siya, who was battling terminal liver failure due to rare condition called langerhan’s cell histiocytosis. It is due to the sequential nature of the transplants that the domino transplant is so named.

Hospital chairman B.K. Rao said: “Twenty specialists helped in performing this marathon 16-hour-long operation on January 31. Domino transplants are rare because there are very few conditions in which you can cure the patient with a transplant and then transplant his or her organ into someone else without passing on the disease and MSUD is one such disease.”

MSUD is caused by lack of an enzyme and a patient with MSUD who receives a liver transplant is able to make enough of the enzyme in the new liver to overcome the shortage elsewhere in the body. In turn, an MSUD patient’s liver which is otherwise entirely normal, can be transplanted into another person without passing on the disease, because that patient’s other cells still make the enzyme lacking in the liver.

For the surgery, the team at Sir Ganga Ram Hospital was divided into three units and it prepared the donor liver, Shourya’s own liver and Siya’s diseased liver for removal sequentially in three separate operating theatres. First the donor liver and then Shourya’s own liver were removed and prepared on the bench for transplantation by re-constructing the vital blood vessels with complex vein grafts. Shourya was transplanted first and then his liver was transplanted into Siya.

Friday, February 20, 2009

World's youngest domino liver transplant in Delhi hospital

New Delhi | Thursday, Feb 19 2009 IST

In what is claimed to be the first of the world's youngest domino liver transplant, a unique procedure in which two life-saving liver transplants are performed using just one donor liver, two children aged 22 months and two years old and a 37-year-old woman underwent the surgery in a hospital here.

While Shourya, a boy, was cured of Maple Syrup Urine Disease(MSUD) by a transplant performed using 20 per cent of the liver of his aunty, Mukta, 37, his own liver was, in turn, tranplanted into another two-year-old girl Siya, who was battling terminal liver failure due to a rare condition called Langerhan's Cell Histiocytosis(LCH), in Sir Ganga Ram Hospital in central Delhi.

It is due to the sequential nature of the transplants that the domino transplants are so named.

Addressing a news conference here today, Dr A S Soin, the Chief Liver Transplant Surgeon and Director of Liver Transplantation of Sir Ganga Ram Hospital, said, ''Domino transplants are rare because there are very few conditions in which you can cure the patient with a transplant and then transplant his or her organ into someone else with passing on the disease. MUSD is one such disease.

The surgery, which was also India's first, was performed by 20 specialists on January 31 and it lasted 16 hours.

He claimed this made Shourya the country's first and the world's youngest recipient of a living donor liver transplant for MSUD and Siya the country's first and the world's youngest recipient of a domino liver transplant.

Asked if they had any chance of developing complications in the near future after the surgery, Chief Paediatric Hepatologist Neelam Mohan said they would both be normal in three months and ''we would be closely monitoring them to check if whether the disease relapses or not''.

Shourya, Dr Mohan added, was suffering from MSUD since birth and in this disease toxic level os branched chain amino acids -- leucine, isoleucine and valine build up due to the lack of the detoxifying dehydrogenase enzyme.

She said in cases of MSUD disease soon after the birth children develop metabloic crises with vomiting, poor feeding, weight loss, convulsions and coma. The high levels of acids in the urine result in a smell of burnt sugar, hence the name Maple Syrup. ''To survive, they need a special diet low in protein and devoid of these amino acids, along with regular monitoring of leucine levels.'' Shorya's parents, Prashant and Neeti, moved to the US and put him permanently on the MUSD diet which costs around Rs 60,000 to Rs 70,000 per month. MSUD threatened to damage the nervous system of Shorya. His aunty, Mukta, was found to be a suitable donor and after the transplant said, ''it is such a joy to see the child on a normal diet for the first time in his life''.

Siya was suffering from LCH that affects many organs but especially the liver and resulted in its failure. She had several courses of chemotherapy to contain the disease. Although her disease went into remission her liver had been irreversibly damaged due to which she needed a life-saving transplant.

While Siya's mother was willing to give a part of her liver for the transplant, she did not need to undergo surgery as Shourya's liver could be successfully used in this unique domono operation, Dr Mohan added.

Friday, April 18, 2008

Gaucher Disease

Introduction: Gaucher Disease

Gaucher Disease: Gaucher (pronounced "go-SHAY") disease is an inherited illness caused by a gene mutation. (Source: Genes and Disease by the National Center for Biotechnology) ... more about Gaucher Disease.

Gaucher Disease: A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3. More detailed information about the symptoms, causes, and treatments of Gaucher Disease is available below.

Symptoms of Gaucher Disease

See full list of 26 symptoms of Gaucher Disease

Medical Textbooks Online about Gaucher Disease

16 MEDICAL BOOKS ONLINE! Full text.
Free access (no registration).

Gaucher's disease

  • "Professional Guide to Diseases (Eighth Edition)"

Book excerpts: Copyright © 2007 Lippincott Williams & Wilkins. All rights reserved.

Wrongly Diagnosed with Gaucher Disease?

Causes of Gaucher Disease

Read more about causes of Gaucher Disease.

Treatments for Gaucher Disease

Read more about treatments for Gaucher Disease

Videos for Gaucher Disease

Your Rights as a Patient

Your Rights as a PatientWhenever you go to a hospital or clinic for a major procedure or diagnostic test, one of the many forms you are given to sign is an "informed...

Protecting from Infection

Protecting from InfectionGerms are a fact of life and catching an infectious disease like a cold may seem inevitable. But there are simple ways to protect yourself against...

Stress Reduction

Stress ReductionStress takes its toll by making us anxious, depressed and not able to function as fully as we'd like. What many don't know is that stress can...

Poor Sleep's Effect on Health

Poor Sleep's Effect on HealthSleep is necessary to feel refreshed, but now we know sleep actually impacts the way the body functions. Sleeping poorly can affect how often you get...

Patient Surveys for Gaucher Disease

Prognosis for Gaucher Disease

Prognosis for Gaucher Disease: There is no permanent cure for Gaucher’s. Enzyme replacement therapy is very beneficial for type 1 patients and most of the type 3 patients with this condition. (Source: excerpt from NINDS Gaucher's Disease Information Page: NINDS)

More about prognosis of Gaucher Disease

Reseach about Gaucher Disease

Visit our research pages for current research about Gaucher Disease treatments.

Clinical Trials for Gaucher Disease

The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on ClinicalTrials.gov for Gaucher Disease include:

See full list of 24 Clinical Trials for Gaucher Disease

Statistics for Gaucher Disease

Types of Gaucher Disease

  • Type 1 adult Gaucher disease - most common; adult Gaucher disease, or chronic non-neuronopathic
  • Type 2 infantile Gaucher disease - infantile, or acute neuronopathic
  • Type 3 juvenile Gaucher disease - juvenile, or subacute neuronopathic

Read more about Types of Gaucher Disease

Medical Guidebooks and Ebooks for Gaucher Disease

See all guides and ebooks for Gaucher Disease

Stories from Users Related to Gaucher Disease

Related forums and stories:

User Interactive Forums

Read about other experiences, ask a question about Gaucher Disease, or answer someone else's question, on our message boards:

Article Excerpts about Gaucher Disease

Genes and Disease by the National Center for Biotechnology (Excerpt)

Gaucher (pronounced "go-SHAY") disease is an inherited illness caused by a gene mutation. (Source: Genes and Disease by the National Center for Biotechnology)

NINDS Gaucher's Disease Information Page: NINDS (Excerpt)

Gaucher’s disease is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and, in rare cases, the brain. (Source: excerpt from NINDS Gaucher's Disease Information Page: NINDS)

Wiki article about Gaucher Disease

See full article about Gaucher Disease

Definitions of Gaucher Disease:

An autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase (see GLUCOSYLCERAMIDASE) featuring the pathological storage of glycosylceramide in mononuclear PHAGOCYTES (Gaucher Cells). The most common subtype is the non-neuronopathic form, a slowly progressive condition characterized by hepatosplenomegaly and skeletal deformities. The neuronopathic forms are divided into infantile and juvenile forms. The infantile form presents at 4-5 months of age with anemia, loss of cognitive gains, neck retraction, dysphagia, and hepatosplenomegaly. The juvenile form features a slowly progressive loss of intellect, hepatosplenomegaly, ATAXIA, myoclonic SEIZURES, and spasticity. The neuronopathic forms are characterized by neuronal loss with neuronophagia, and accumulation of glucocerebroside in neurons. (From Baillieres Clin Haematol 1997 Dec;10(4):711-23; Menkes, Textbook of Child Neurology, 5th ed, p97) - (Source - Diseases Database)

Gaucher Disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Gaucher Disease, or a subtype of Gaucher Disease, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Gaucher Disease as a "rare disease".
Source - Orphanet

Thursday, February 7, 2008

Leptospirosis



What is it?

Leptospirosis is a bacterial infection that is spread from animals to human beings. It is caused by a bacterium Leptospira interrogans, which occurs more commonly in tropical climates. The disease is more common in the rural areas of most countries where people come into contact with animals regularly.

The two forms of leptospirosis are – Weil's disease (spread from rodents to humans) and Hardjo form (spread from cattle to humans).

How is it caused?

The disease is transmitted by infected rodents and other animals who pass the bacteria in their urine. These bacteria can live for a long time in the soil, fresh water and vegetation. Some animals like cattle, pigs, horses, dogs may become sick after infection, but some may not show any symptoms. The disease is contracted by humans when they come into contact with the infected soil or water. The bacteria enter the body through broken skin, mucous membranes or conjuctivae. It is not transmitted from person to person but can be contracted by many people at the same time due to consumption of contaminated food.

What are the symptoms?

The symptoms of leptospirosis resemble the symptoms of many other diseases. The common symptoms include fever, headache, chills, nausea and vomiting. There may be yellowing of the eyes and skin. In severe cases, there may be liver damage, kidney failure and internal bleeding. Most severe cases of leptospirosis have to be hospitalised.

The infected individual may not show any symptoms initially as the incubation time (the time between the infection and manifestation of symptoms) is about 2-4 weeks. The illness usually begins abruptly with flu-like symptoms. It may also occur in separate stages. The person may recover for a while and the symptoms may start again later. Even after treatment, the patient may feel weak for a long time and total recovery may take several months.

What is the treatment?

The diagnosis of the disease is made by a special blood test that confirms the presence of the causal bacterium. Leptospirosis is commonly treated with antibiotics like Penicillin, which are given early in the course of the disease. In severe cases, the medication may have to be injected into the vein for more effective and quick action. The treatment should be started as soon as the condition is diagnosed to prevent worsening of the symptoms.

Can it be prevented?

Leptospirosis can only be prevented by taking certain precautions:
  • Care should be taken while wading in water that may be contaminated. People who come into contact with possibly contaminated vegetation or soil should take care that all wounds are covered.
  • Proper protective clothing like water proof boots and gloves must be worn during the time of contact with the sources of infection.
    Travelers going to leptospirosis-prone areas should take preventive antibiotics after consulting a doctor, before and during the trip to reduce the risk of contracting the disease.

Tuesday, February 5, 2008

LIPA Gene

What is the official name of the LIPA gene?

The official name of this gene is “lipase A, lysosomal acid, cholesterol esterase (Wolman disease).”
LIPA is the gene's official symbol. The LIPA gene is also known by other names, listed below.

What is the normal function of the LIPA gene?

The LIPA gene provides instructions for making an enzyme called lysosomal acid lipase. This enzyme is found in the lysosomes (compartments that digest and recycle materials in the cell), where it breaks down fats (lipids) such as cholesteryl esters and triglycerides.
In the body, cholesterol works with high-density lipoproteins (HDL), often referred to as "good cholesterol." High-density lipoproteins carry cholesterol from the body's tissues to the liver for removal. When the cholesterol is attached to a fatty acid it is a cholesteryl ester. Normally, the cholesteryl esters are broken down by lysosomal acid lipase into cholesterol and a fatty acid and then excreted or used by the body as nutrients.

How are changes in the LIPA gene related to health conditions?


cholesteryl ester storage disease - caused by mutations in the LIPA gene
More than 20 mutations in the LIPA gene have been found to cause cholesteryl ester storage disease. Most of these mutations change single amino acids in lysosomal acid lipase and decrease the protein's functional ability. The most common LIPA mutation that causes cholesteryl ester storage disease disrupts how genetic information is spliced together to make the blueprint for producing lysosomal acid lipase. This particular mutation, called a splice-site mutation, substitutes the nucleotide guanine for the nucleotide adenine near an area of the gene called exon 8 (written as IVS8-1G>A). (Nucleotides are the building blocks of DNA.) This mutation disrupts the way the gene's instructions are used to make the enzyme, resulting in a deletion of 24 building blocks of protein (amino acids). People with the IVS8-1G>A mutation in both copies of the LIPA gene in each cell have only 5 percent of the normal amount of liposomal lipase activity. Decreased lysosomal acid lipase activity leads to an accumulation of cholesteryl esters and triglycerides in the cells and tissues throughout the body, particularly the heart and liver. In general, lower lysosomal acid lipase activity results in more severe disease.
Wolman disease - caused by mutations in the LIPA gene
More than 10 mutations in the LIPA gene have been found to cause Wolman disease. Most of these mutations result in the production of an abnormally short version of lysosomal acid lipase, which does not function properly. The lack of lysosomal acid lipase activity results in an accumulation of cholesteryl esters and triglycerides in the cells and tissues of the spleen, liver, bone marrow, small intestine, adrenal glands, and lymph nodes. This accumulation as well as malnutrition caused by the body's inability to use lipids properly result in the signs and symptoms of Wolman disease.

Where is the LIPA gene located?

Cytogenetic Location: 10q23.2-q23.3
Molecular Location on chromosome 10: base pairs 90,963,308 to 91,001,639
The LIPA gene is located on the long (q) arm of chromosome 10 between positions 23.2 and 23.3.
The LIPA gene is located on the long (q) arm of chromosome 10 between positions 23.2 and 23.3.
More precisely, the LIPA gene is located from base pair 90,963,308 to base pair 91,001,639 on chromosome 10.

Where can I find additional information about LIPA?

You and your healthcare professional may find the following resources about LIPA helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the LIPA gene or gene products?

  • cholesterol ester hydrolase
  • LAL
  • LICH_HUMAN
  • lipase A
  • lysosomal acid lipase
  • sterol esterase

Where can I find general information about genes?

Cholesteryl ester storage disease

What is cholesteryl ester storage disease?

Cholesteryl ester storage disease is a rare inherited condition involving the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of lipids accumulate in cells and tissues throughout the body. The liver is most severely affected. An enlarged liver (hepatomegaly) is one of the key signs of the disease. In addition, chronic liver disease (cirrhosis) can develop. An accumulation of fatty deposits on the artery walls (atherosclerosis) is usually seen early in life. The deposits narrow the arteries and can eventually block them, increasing the chance of having a heart attack or stroke.
The symptoms of cholesteryl ester storage disease are highly variable. Some people have such mild symptoms that they go undiagnosed until late adulthood, while others can have liver dysfunction in early childhood. The expected lifespan of those with cholesteryl ester storage disease depends on the severity of the associated complications.

How common is cholesteryl ester storage disease?

Cholesteryl ester storage disease appears to be a rare disorder. About 50 individuals affected by this condition have been reported worldwide.

What genes are related to cholesteryl ester storage disease?

Mutations in the LIPA gene cause cholesteryl ester storage disease.
The LIPA gene provides instructions for making an enzyme called lysosomal acid lipase. This enzyme is found in the lysosomes (compartments that digest and recycle materials in the cell), where it breaks down lipids such as cholesteryl esters and triglycerides.
In the body, cholesterol works with high-density lipoproteins (HDL), often referred to as "good cholesterol." High-density lipoproteins carry cholesterol from the body's tissues to the liver for removal. When the cholesterol is attached to a fatty acid it is a cholesteryl ester. Normally, cholesteryl esters are broken down by lysosomal acid lipase into cholesterol and a fatty acid. Then the cholesterol can be transported by HDL to the liver for removal.
Mutations in the LIPA gene lead to a shortage of lysosomal acid lipase and prevent the body from using lipids properly. Without the activity of lysosomal acid lipase, the cholesteryl esters stay in the blood and tissues and are not able to be transported to the liver for excretion. The resulting buildup of triglycerides, cholesteryl esters, and other fats within the cells and tissues cause the signs and symptoms of cholesteryl ester storage disease.
Read more about the LIPA gene.

How do people inherit cholesteryl ester storage disease?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.

Where can I find information about treatment for cholesteryl ester storage disease?

These resources address the management of cholesteryl ester storage disease and may include treatment providers.
You might also find information on treatment of cholesteryl ester storage disease in Educational resources and Patient support.

Where can I find additional information about cholesteryl ester storage disease?

You may find the following resources about cholesteryl ester storage disease helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for cholesteryl ester storage disease?

  • CESD
  • Cholesterol Ester Storage Disease
See How are genetic conditions and genes named?

What if I still have specific questions about cholesteryl ester storage disease?

Where can I find general information about genetic conditions?

Reye's syndrome

Introduction

Aspirin is a staple in many medicine cabinets. But if you have children, this common medication is a potentially dangerous drug. Aspirin has been linked with Reye's syndrome, a rare but serious condition that can affect children and teenagers recovering from a viral infection.
Reye's syndrome is characterized by swelling in the liver and the brain. Early diagnosis and treatment of Reye's syndrome can save a child's life.
Cases of Reye's syndrome peaked in the 1970s and early 1980s. Today, most children and teenagers who are evaluated for Reye's syndrome don't have the disease. Still, prevention remains important. The basic rule: Don't give aspirin to anyone age 18 or younger, unless specifically recommended by the child's doctor.

Signs and symptoms

In Reye's syndrome, a child's blood sugar level typically drops while the level of ammonia and acidity in his or her blood rises. At the same time, the liver may swell and develop fatty deposits. Swelling may also occur in the brain, which can cause seizures, convulsions or loss of consciousness.
The signs and symptoms of Reye's syndrome typically appear about one week after a viral infection, such as the flu or chickenpox, or an upper respiratory infection, such as a cold. For children younger than age 2, the first signs of Reye's syndrome may be diarrhea and rapid breathing. For older children and teenagers, early signs of Reye's syndrome may include:
  • Persistent or continuous vomiting
  • Unusual sleepiness or lethargy
As the condition progresses, signs and symptoms may become more serious:
  • Irritable, aggressive or irrational behavior
  • Confusion
  • Weakness or paralysis in the arms and legs
  • Seizures
  • Loss of consciousness
These signs and symptoms require emergency treatment.

Causes

The exact cause of Reye's syndrome is unknown. Reye's syndrome seems to be triggered by using aspirin to treat a viral illness or infection — particularly influenza and chickenpox — in children and teenagers. In some cases, Reye's syndrome may be an underlying metabolic condition that's unmasked by a viral illness. Exposure to certain toxins — such as insecticides, herbicides and paint thinner — also may contribute to Reye's syndrome.

When to seek medical advice

Early diagnosis and treatment of Reye's syndrome can save a child's life. If you suspect that your child has Reye's syndrome, it's important to act quickly. Contact your child's doctor if your child becomes unusually sleepy or lethargic or has sudden behavior changes following a common cold or a bout with the flu or chickenpox. Seek emergency medical help if your child has seizures or convulsions or loses consciousness.

Screening and diagnosis

There's no specific test for Reye's syndrome. Instead, screening for Reye's syndrome usually begins with blood and urine tests. Sometimes more invasive diagnostic tests are needed to evaluate other possible causes of liver problems and investigate any neurological abnormalities. For example:
  • Spinal tap (lumbar puncture). A spinal tap can help the doctor identify or rule out other diseases with similar signs and symptoms, such as infection of the lining that surrounds the brain and spinal cord (meningitis) or inflammation or infection of the brain (encephalitis). During a spinal tap, a needle is inserted through the lower back into a space below the end of the spinal cord. A small sample of cerebrospinal fluid is removed and sent to a lab for analysis.
  • Liver biopsy. A liver biopsy can help the doctor identify or rule out other conditions that may be affecting the liver. During a liver biopsy, a needle is inserted through the skin on the upper right side of the abdomen and into the liver. A small sample of liver tissue is removed and sent to a lab for analysis.
  • Computerized tomography (CT) or magnetic resonance imaging (MRI). A head CT or MRI scan can help the doctor identify or rule out other causes of behavior changes or decreased alertness. A CT scan uses a sophisticated X-ray machine linked to a computer to produce detailed, two-dimensional images of the brain. An MRI scan uses magnetic fields and radio waves to generate images of the brain.

Complications

More than 80 percent of children and teenagers who have Reye's syndrome survive, although varying degrees of permanent brain damage are possible. Without proper diagnosis and treatment, Reye's syndrome can be fatal within a few days.

Treatment

Reye's syndrome is usually treated in the hospital. Severe cases may be treated in the intensive care unit. The hospital staff will closely monitor your child's blood pressure and other vital signs. Specific treatment may include:
  • Intravenous fluids. Your child may be fed through an intravenous (IV) line. Glucose and an electrolyte solution containing sodium, potassium and chloride may be given through the IV, too.
  • Insulin. Small amounts of insulin may be used to increase sugar metabolism.
  • Corticosteroids. These medications may be used to reduce swelling in the brain.
  • Diuretics. These medications may be used to increase fluid loss through urination.
If your child has trouble breathing, he or she may need assistance from a breathing machine (ventilator).

Prevention

Don't give aspirin to anyone age 18 or younger, especially to treat a viral illness. This includes aspirin and medications that contain aspirin.
Always check the label before you give your child medication, including over-the-counter products and alternative or herbal remedies. Aspirin can show up in some unexpected places, such as Alka-Seltzer and Pepto-Bismol. Keep in mind that sometimes aspirin goes by other names, too, such as:
  • Acetylsalicylic acid
  • Acetylsalicylate
  • Salicylic acid
  • Salicylate
If your child has the flu, chickenpox or another viral illness, use other medications — such as acetaminophen (Tylenol, others), ibuprofen (Advil, Motrin, others) or naproxen sodium (Aleve) — to reduce fever or relieve pain.
There's one caveat to the aspirin rule, however. Children and teenagers who have certain chronic diseases, such as Kawasaki disease and juvenile rheumatoid arthritis, may need long-term treatment with drugs that contain aspirin. If your child needs aspirin therapy, make sure his or her vaccines are current — including two doses of the varicella (chickenpox) vaccine and a yearly flu vaccine. Avoiding these two viral illnesses can help prevent Reye's syndrome.

Reye Syndrome


Reye syndrome is a rare illness that can affect the blood, liver and brain of someone who recently had a viral infection. It always follows another illness. Although it mostly affects children and teens, anyone can get it. It can develop quickly and without warning. It is most common during flu season. Symptoms include
  • Nausea and vomiting
  • Listlessness
  • Personality change - such as irritability, combativeness or confusion
  • Delirium
  • Convulsions
  • Loss of consciousness
If these symptoms occur soon after a viral illness, seek medical attention immediately. Reye syndrome can lead to a coma and brain death, so quick diagnosis and treatment are critical. Treatment focuses on preventing brain damage. There is no cure.
The cause of Reye syndrome is unknown. However, studies have shown that taking aspirin increases the risk of getting it. Because of that, health care professionals now recommend other pain relievers for young patients.

What is Reye's Syndrome?
Reye's syndrome (RS) is primarily a children's disease, although it can occur at any age. It affects all organs of the body but is most harmful to the brain and the liver--causing an acute increase of pressure within the brain and, often, massive accumulations of fat in the liver and other organs. RS is defined as a two-phase illness because it generally occurs in conjunction with a previous viral infection, such as the flu or chicken pox. The disorder commonly occurs during recovery from a viral infection, although it can also develop 3 to 5 days after the onset of the viral illness. RS is often misdiagnosed as encephalitis, meningitis, diabetes, drug overdose, poisoning, sudden infant death syndrome, or psychiatric illness. Symptoms of RS include persistent or recurrent vomiting, listlessness, personality changes such as irritability or combativeness, disorientation or confusion, delirium, convulsions, and loss of consciousness. If these symptoms are present during or soon after a viral illness, medical attention should be sought immediately. The symptoms of RS in infants do not follow a typical pattern; for example, vomiting does not always occur. The cause of RS remains a mystery. However studies have shown that using aspirin or salicylate-containing medications to treat viral illnesses increases the risk of developing RS. A physician should be consulted before giving a child any aspirin or anti-nausea medicines during a viral illness, which can mask the symptoms of RS.

Is there any treatment?

There is no cure for RS. Successful management, which depends on early diagnosis, is primarily aimed at protecting the brain against irreversible damage by reducing brain swelling, reversing the metabolic injury, preventing complications in the lungs, and anticipating cardiac arrest. It has been learned that several inborn errors of metabolism mimic RS in that the first manifestation of these errors may be an encephalopathy with liver dysfunction. These disorders must be considered in all suspected cases of RS. Some evidence suggests that treatment in the end stages of RS with hypertonic IV glucose solutions may prevent progression of the syndrome.

What is the prognosis?

Recovery from RS is directly related to the severity of the swelling of the brain. Some people recover completely, while others may sustain varying degrees of brain damage. Those cases in which the disorder progresses rapidly and the patient lapses into a coma have a poorer prognosis than those with a less severe course. Statistics indicate that when RS is diagnosed and treated in its early stages, chances of recovery are excellent. When diagnosis and treatment are delayed, the chances for successful recovery and survival are severely reduced. Unless RS is diagnosed and treated successfully, death is common, often within a few days.

What research is being done?

Much of the research on RS focuses on answering fundamental questions about the disorder such as how problems in the body's metabolism may trigger the nervous system damage characteristic of RS and what role aspirin plays in this life-threatening disorder. The ultimate goal of this research is to improve scientific understanding, diagnosis and medical treatment of RS.


Organizations
Food and Drug Administration (FDA)
U.S. Department of Health and Human Services
5600 Fishers Lane, CDER-HFD-240
Rockville, MD 20857
http://www.fda.gov
Tel: 301-827-4573 888-INFO-FDA (463-6332)

National Reye's Syndrome Foundation
P.O. Box 829
426 North Lewis
Bryan, OH 43506-0829
nrsf@reyessyndrome.org
http://www.reyessyndrome.org
Tel: 419-636-2679 800-233-7393
Fax: 419-636-9897


NINDS Von Hippel-Lindau Disease (VHL) Information Page

What is Von Hippel-Lindau Disease (VHL)?

von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder characterized by the abnormal growth of tumors in certain parts of the body (angiomatosis). The tumors of the central nervous system (CNS) are benign and are comprised of a nest of blood vessels and are called hemangioblastomas (or angiomas in the eye). Hemangioblastomas may develop in the brain, the retina of the eyes, and other areas of the nervous system. Other types of tumors develop in the adrenal glands, the kidneys, or the pancreas. Symptoms of VHL vary among patients and depend on the size and location of the tumors. Symptoms may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems, and high blood pressure. Cysts (fluid-filled sacs) and/or tumors (benign or cancerous) may develop around the hemangioblastomas and cause the symptoms listed above. Individuals with VHL are also at a higher risk than normal for certain types of cancer, especially kidney cancer.
Is there any treatment?
Treatment for VHL varies according to the location and size of the tumor and its associated cyst. In general, the objective of treatment is to treat the growths when they are causing symptoms but while they are still small so that they do not cause permanent problems by putting pressure on the brain or spine, blocking the flow of cerebrospinal fluid in the nervous system, or impairing vision. Treatment of most cases of VHL usually involves surgery to remove the tumors before they become harmful. Certain tumors can be treated with focused high-dose irradiation. Individuals with VHL need careful monitoring by a physician and/or medical team familiar with the disorder.
What is the prognosis?
The prognosis for patients with VHL depends on the location and complications of the tumors. Untreated, VHL may result in blindness and/or permanent brain damage. With early detection and treatment the prognosis is significantly improved. Death is usually caused by complications of brain tumors or kidney cancer.
What research is being done?
The NINDS pursues a vigorous program of research aimed at preventing and treating disorders that cause tumors in the brain and spinal cord such as VHL.
Genetic Alliance
4301 Connecticut Avenue, N.W.
Suite 404
Washington, DC 20008-2369
info@geneticalliance.org
http://www.geneticalliance.org
Tel: 202-966-5557 800 336-GENE (4363)
Fax: 202-966-8553

National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291

Von Hippel Lindau Family Alliance
2001 Beacon Street
Suite 208
Boston, MA 02135-7877
info@vhl.org
http://www.vhl.org
Tel: 617-277-5667 800-767-4VHL (4845)
Fax: 858-712-8712

Via: www.ninds.nih.gov
International RadioSurgery Association
3002 N. Second Street
Harrisburg, PA 17110
office1@irsa.org
http://www.irsa.org
Tel: 717-260-9808
Fax: 717-260-9809



Von Hippel-Lindau disease (VHL).

Von Hippel-Lindau disease is a dominantly inherited familial cancer syndrome caused by mutations in VHL tumor suppressor gene. It is a rare multi-system disorder of autosomal dominant inheritance with high penetrance and is characterized by abnormal growth in blood vessels. While blood vessels grow like trees, in people with VHL little knots of blood capillaries occur. VHL syndrome is characterized by the presence of haemangioblastomas in the brain, spinal cord and retina with associated involvement of kidneys, liver, spleen, pancreas, adrenals and thyroid gland. Tumors may be either non-cancerous or cancerous. Signs and symptoms of von Hippel-Lindau syndrome can occur throughout life .
Systemic manifestations of VHL are as follows:
  • Retina
  • Central Nervous System
  • Labyrinth
  • Lung
  • Heart
  • Kidney
  • Bladder
  • Epididymis/testis
  • Broad ligament
  • Adrenal gland
  • Pancreas
  • Liver
  • Spleen
  • Skin
  • Bone
  • Miscellaneous --- Omental and mesenteric cysts and paraganglioma.
Rare manifestations include cerebral (upper brain) hemangioblastoma, and rare occurrences of hemangioma in liver, spleen and lung.