Acute Flaccid Paralysis

Acute Flaccid paralysis is a clinical manifestation characterized by weakness or paralysis and reduced muscle tone without other obvious cause.

Etiology
Acute Flaccid Paralysis (AFP) may be caused by a number of agents including enterovirus, echovirus or adenovirus. Acute West Nile infection and campylobacter have also been associated with AFP.

Clinical Presentation
Focal weakness or paralysis characterized as flaccid (reduced tone) without other obvious cause (e.g., trauma) in children less than 15 years old.

Causes


Polio

The term acute flaccid paralysis (AFP) is often used to describe a sudden onset, as might be found with polio.

AFP is the most common sign of acute polio, and used for surveillance during polio outbreaks. AFP is also associated with a number of other pathogenic agents including enteroviruses, echoviruses, and adenoviruses, among others.

Botulism

The Clostridium botulinum bacteria are the cause of botulism. Vegetative cells of C. botulinum may be injested. Introduction of the bacteria may also occur via endospores in a wound. When the bacteria is in vivo they induce flaccid paralysis. This happens because C. botulinum produces a toxin which blocks the release of acetylcholine. When this occurs, the muscles are unable to contract.


Other

Flaccid paralysis can be associated with a lower motor neurone lesion. This is in contrast to a upper motor neurone lesion, which often presents with spastic paralysis. Included in AFP,s list are Poliomyelitis, Transverse myelitis,Guillain-Barré syndrome, enteroviral encephalopathy, traumatic neuritis etc. An AFP Surveillance programme is conducted to increase case yield of poliomyelitis. This includes collection of 2 stool samples within 14 days of onset of paralysis and identification of virus and control of the outbreak and strenghthening immunisation in that area.


Diagnosis

Surveillance is conducted in an attempt to identify cases of AFP (including GBS, transverse myelitis, myelopathy, West Nile virus infection, etc.) and to investigate all reported cases for evidence to rule out or to confirm paralytic poliomyelitis.



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Gaucher Disease

Gaucher disease is an inherited storage disorder. In Gaucher disease, a specific enzyme is deficient. This deficiency allows a fatty substance known as glucocerebroside to build up to toxic levels in the spleen, liver, lungs, bone marrow, and sometimes in the brain. Gaucher disease is genetically inherited in an autosomal recessive pattern, meaning that a child must inherit two copies of the disease gene mutation -- one from each parent -- to be born with the disease. Gaucher disease affects both males and females.

There are three types of Gaucher disease. The Type 1 form is often called the adult form because its symptoms can begin at any age. Although Type 1 occurs worldwide in people of all ethnic backgrounds, it is most prevalent in the Ashkenazi Jewish population (Jews of Eastern European ancestry). Among this group, Gaucher disease occurs at a rate of 1 in 450 births, and is the most common genetic disease affecting Jewish people.

Type 2 Gaucher disease is usually diagnosed in infancy and is the most rare form of the disease. It also occurs worldwide in people of all ethnic backgrounds, and is estimated to occur in 1 in 100,000 births.

In Type 3 Gaucher disease, symptoms appear later in childhood than in Type 2. Type 3 also occurs in people of all ethnic backgrounds. It is estimated to occur in 1 in 50,000 births.

Symptoms
The most common symptoms of Gaucher Type 1 disease are:

* enlarged liver and spleen
* fatigue due to anemia
* low blood platelets, which leads to easy bruising and nosebleeds
* bone pain
* bone deterioration and weakening (osteoporosis)

There may also be lung and kidney impairment but there is no brain involvement. In Types 2 and 3 Gaucher disease, the brain and nervous system are affected, so additional symptoms include:

* lack of coordination (ataxia)
* brain damage
* seizures

Diagnosis
A diagnosis of Gaucher disease may be suggested by the symptoms. A special blood test called an enzyme assay can measure glucocerebrosidase (GC) activity. In Gaucher disease, the GC levels will be very low, and would confirm the diagnosis.

Treatment
There is as yet no complete cure for Gaucher disease. For people with Gaucher disease Types 1 and 3, a drug called Cerezyme (imiglucerase) replaces the deficient enzyme in the disease and relieves many of its symptoms. It is important to begin this enzyme replacement therapy before there are significant organ or bone changes. The treatment can’t undo the severe brain damage that may occur in Types 2 and 3. Children with Gaucher disease Type 2 have the most severe impairment and usually do not live past 2 to 3 years of age.

Denys-Drash Syndrome

Infants with Denys-Drash syndrome usually are diagnosed with kidney disease between 2 weeks and 18 months of age. These children develop nephrotic syndrome because the kidney tissue becomes hardened and scarred (sclerotic). They may develop high blood pressure because of the nephrotic syndrome. The condition of their kidneys worsens over time until the kidneys shut down and stop functioning (called end stage renal disease, or kidney failure), which requires dialysis or a kidney transplant. All children with Denys-Drash syndrome develop kidney failure, usually before age 3.

Wilms tumor
Wilms tumor is a cancerous tumor that grows on the kidneys. Almost all children with Denys-Drash syndrome develop Wilms tumor on one or both kidneys. Usually it is diagnosed at around 2 years of age.

Sexual organ malformation
Both the sexual organs inside the body and those on the outside can be malformed. Boys may have a very tiny penis with undescended malformed testicles, which may cause them to be mistaken for girls. Girls may have enlarged labia and malformed ovaries. Children with Denys-Drash syndrome are at high risk for developing cancer in these malformed tissues.

Diagnosis of Denys-Drash syndrome
Since all children with the disorder have kidney disease, symptoms are typical of those for nephrotic syndrome:

* Swelling of parts of the body, especially the abdomen
* Very little urination
* Protein in the urine
* High blood pressure

Kidney disease may be diagnosed by blood tests and by taking a tissue from the kidneys (biopsy).

Symptoms of Wilms tumor include:

* Swollen abdomen and abdominal pain
* Blood in the urine
* A lump or mass in the abdomen

Wilms tumor can be diagnosed by abdominal ultrasound and computed tomography (CT) scan.

Abnormal outer genitalia can be seen at birth. Pelvic ultrasound and CT scan can determine if the sexual organs inside are malformed.

Treatment
Medical treatment of Denys-Drash syndrome includes management of kidney function, high blood pressure, and complications from kidney disease. Surgery is used to remove Wilms tumor, and often both diseased kidneys are removed. The affected child would then need dialysis and, ultimately, kidney transplants. Abnormal sexual organs may be removed to prevent cancer growth.

source: about.com

Crouzon Syndrome

Crouzon syndrome is a genetic disorder of Chromosome 10. Crouzon syndrome affects individuals of all ethnic backgrounds. It may be inherited or it may occur spontaneously.

Symptoms:
Crouzon syndrome is usually diagnosed in infancy because of its particular face and skull deformities, which are:

* Early fusion of the bones of the skull (craniosynostosis), causing a misshapen head
* The skull problems may push the brain down (tonsillar herniation), and may obstruct the flow of cerebrospinal fluid (hydrocephalus)
* The nose and upper jaw appear sunken in because of poor bone growth in the face (midface hypoplasia)
* The eyes may appear to pop out (exophthalmos or proptosis) for the same reason (midface hypoplasia)

There may be other internal problems with the face and head such as narrow or absent ear canals, problems with the teeth and palate, and problems with the nose and sinuses. In some individuals with Crouzon syndrome (about 18%), two or more bones of the neck may be fused together.

Treatment:
There is no specific treatment for Crouzon syndrome, so medical care focuses on managing symptoms and surgically correcting deformities. Opening up the fused cranial bones is usually done early to prevent pressure on the brain. Plastic surgery can reconstruct the facial bones. Orthodontics can help problems with the teeth. Speech therapy can help children with Crouzon syndrome learn to communicate. People with the syndrome usually have a normal lifespan.

Dwarfism

Dwarfism:

* is characterized by short stature. Technically, that means an adult height of 4 feet 10 inches or under, according to the advocacy group Little People of America (LPA).
* can be caused by any one of more than 300 conditions, most of which are genetic. The most common type, accounting for 70% of all cases of short stature, is called achondroplasia.
* can and most often does occur in families where both parents are of average height. In fact, 4 out of 5 of children with achondroplasia are born to average-size parents.

Dwarfism isn't:

* an intellectual disability. A person who has dwarfism is typically of normal intelligence.
* a disease that requires a "cure." Most people with one of these conditions live long, fulfilling lives.
* a reason to assume someone is incapable. Little people go to school, go to work, marry, and raise children, just like their average-size peers.

Possible Complications and Treatments:

Short stature is the one quality all people with dwarfism have in common. After that, each of the many conditions that cause dwarfism has its own set of characteristics and possible complications.

* delayed development of some motor skills, such as sitting up and walking
* a greater susceptibility to ear infections and hearing loss
* breathing problems caused by small chests
* weight problems
* curvature of the spine (scoliosis, kyphosis, and/or lordosis)
* bowed legs
* trouble with joint flexibility and early arthritis
* lower back pain or leg numbness
* crowding of teeth in the jaw




source: kidshealth.org

Blackfan Diamond Anemia

In Blackfan Diamond (or Diamond Blackfan) anemia, the body's bone marrow produces little or no red blood cells. Blackfan Diamond anemia affects approximately 600 to 700 people worldwide. Its cause is unknown, although a genetic error in a gene called RPS19 on chromosome 19 is associated with about 25% of cases. In about 10% to 20% of cases, there is a family history of the disorder.

Symptoms:

Blackfan Diamond anemia is present at birth but can be difficult to identify. In about one-third of children born with the disorder, there are physical defects such as hand deformities or heart defects, but a clear set of signs hasn't been identified. The symptoms may also vary greatly, from very mild to severe and life-threatening.

Red blood cells carry oxygen throughout the body, so a child with Blackfan Diamond may have symptoms related to not enough blood oxygen (anemia):

* pallor (paleness)
* irregular heartbeat, due to the heart trying to keep oxygen moving throughout the body
* fatigue, irritability, and fainting.

Diagnosis:

Blackfan Diamond anemia is usually diagnosed within the first two years of life, sometimes even at birth, based on symptoms.
A complete blood cell count (CBC) for the baby would show a very low number of red blood cells as well as low hemoglobin. Another blood test would show high adenosine deaminase activity (ADA). A bone marrow sample (biopsy) would show that few new red blood cells were being created.

Treatment:

The first line of treatment for Blackfan Diamond anemia is to give the child steroid medication, usually prednisone. About 70% of children with Blackfan Diamond anemia will respond to this treatment, in which the medication stimulates the production of more red blood cells. However, this means that the child will have to take steroid medication for the rest of his or her life, which has serious side effects such as diabetes, glaucoma, bone weakening (osteopenia), and high blood pressure. Also, the medication may suddenly stop working for the person at any time.

Angelman Syndrome

Angelman syndrome, caused by a genetic defect on chromosome 15, includes developmental delay, near absence of speech, and facial abnormalities. The most striking characteristic of someone with Angelman syndrome, though, is the appearance of being happy most of the time, with frequent smiling and prolonged episodes of laughter.

Angelman syndrome may occur in people of all ethnic backgrounds. About 70-75% of individuals born with Angelman syndrome have no family history of the disorder

Symptoms:
Individuals with Angelman syndrome share common characteristics:

* Developmental delay and functional impairment
* Disparity between understanding language and speaking; speaks few or no words; may be able to use nonverbal gestures
* Short attention span, hyperactivity, easily excitable, appears happy, frequent smiling and/or laughing
* Difficulty with movement or balance, including difficulty walking and/or tremors of limbs.

In addition, individuals with Angelman syndrome may have:

* Seizures of any type
* Delayed, disproportionate growth of head in childhood
* Hypopigmented skin and eyes
* Wide mouth, widely-spaced teeth, protruding tongue, drooling, feeding problems and frequently putting things in the mouth during infancy
* Sleep disturbance.

Diagnosis:

Since Angelman syndrome is a genetic disorder, infants are born with it. Parents begin to notice when their child is between 6-12 months of age that developmental milestones are not being met, such as sitting alone without support and standing up. Jitteriness or tremors of the limbs may be present, and once the child begins walking there may be toe-walking, lurching forward, or a jerky gait.

The child may be given the diagnosis of cerebral palsy based on these symptoms. However, the child’s behaviors of constant smiling and laughing, but not talking, point towards a diagnosis of Angelman syndrome. The diagnosis is based on the symptoms present, as there is no specific test for the syndrome.

Treatment:

Specific medical treatment may be needed for problems such as seizures, feeding problems, or sleep disturbance. Physical therapy is helpful for improving walking, and occupational therapy can help the child develop everyday living skills . The child with Angelman syndrome needs consistent behavioral management and supervision, and will require special provisions to be integrated into the classroom. Speech and communication therapy can help the child, if able, to develop nonverbal means of communication and use communication aids such as pictures to express needs. Individuals with Angelman syndrome generally have good health and can be expected to live a normal life span.

Angelman Syndrome Foundation Takes Major Step Toward Furthering Research Efforts
The Angelman Syndrome Foundation, http://www.angelman.org, announced the formation of the Angelman Treatment and Research Institute (ATRI), which will direct the organization's rapidly increasing research funding. The ATRI will also serve as a hub for more than 30 organizations, researchers and scientists worldwide to share discoveries and treatments for this neuro-genetic disorder. The announcement of the ATRI was made during the Angelman Syndrome Foundation's biennial conference in Orlando, Fla.



source: rarediseases.about.com

Antiphospholipid Syndrome (APS)

Antiphospholipid syndrome (APS), also known as 'sticky blood,' is an autoimmune disorder -- the result of the immune system essentially turning on the body and attacking it in error. In the case of APS, the body makes antibodies to its own blood proteins.

Antiphospholipid syndrome can occur in individuals without any associated disease. This is called primary APS. The disorder may also occur with systemic lupus erythematosus (SLE) or another autoimmune disorder. This is called secondary APS

Symptoms of Antiphospholipid Syndrome
Along with the antibodies, the body begins producing blood clots. The blood clots can block arteries and veins, cutting off blood supply to a part of the body. The symptoms the individual experiences come from the location(s) and effects of the blood clots:

1.Veins or arteries of the arms or legs - Clots may cause pain, swelling, numbness, tingling in the hands or feet, or leg ulcers. If the blood supply was completely cut off to a part, such as a toe, the individual could lose the toe.

2. Arteries of the heart - Clots may cause chest pain or heart attack. The individual may also have a heart murmur or heart valve problems.

3. Blood vessels of the skin - Clots may cause bruises (purpura) or a blotchy, purplish rash called livedo reticularis.

4. lood vessels of the brain - A clot that cuts off blood supply to a part of the brain causes a stroke. An individual with APS may also experience migraine headaches or seizures.

5. Placenta during pregnancy - Women with APS may have frequent miscarriages or premature births.

The most serious form of antiphospholipid syndrome, called catastrophic APS, occurs when many internal organs develop blood clots over a period of days to weeks.

Diagnosis of Antiphospholipid Syndrome
Diagnosis of antiphospholipid syndrome relies on characteristic symptoms and signs, plus laboratory tests. If an individual has had blood clots in the legs without any other possible cause, for example, APS may be to blame. A blood test for anticardiolipin antibodies can help confirm the diagnosis. Other abnormal test results, such as decreased platelets or anemia, may be present. A computed tomography (CT) scan or magnetic resonance imaging (MRI) can confirm the presence of blood clots.

Treatment of Antiphospholipid Syndrome
Treatment for antiphospholipid syndrome is based on the individual's symptoms. Catastrophic APS requires hospitalization. Some individuals who have characteristic antibodies but no symptoms of APS may be started on daily low-dose aspirin to help reduce the risk of blood clots forming. If a blood clot is discovered, the person is started on anticoagulant medication such as Coumadin (warfarin) or Lovenox (enoxaparin).

With medication and lifestyle modifications (such as avoiding long periods of inactivity in which clots can form in the legs), most people with primary antiphospholipid syndrome lead normal, healthy lives. Those who have secondary APS may have additional problems due to their underlying rheumatic or autoimmune conditions.


source: rarediseases.about.com

Inherited Ataxia Disorders

Ataxia Telangiectasia
Affects central nervous system, eyes, skin, and immunity

Ataxia telangiectasia is a genetic disorder that affects the central nervous system, the eyes, skin, and immune system. Ataxia telangiectasia affects both males and females and has been estimated to occur 1 in 40,000-50,000 individuals.

Symptoms:

1. Central Nervous System: loss of muscle control, leading to swaying of the head and trunk on standing; by age 10 children often need a wheelchair.
2.Skin: tiny red lesions, like spider veins, appear at the corners of the eyes and spread.
3. Immune System: impaired immune system leaves child open to recurrent respiratory infections.

Other symptoms may include delayed growth, difficulty speaking or swallowing, and dry coarse hair (which may be partly gray) and skin. About 20% of children with ataxia telangiectasia develop cancer such as leukemia or Hodgkin's lymphoma.

Diagnosis
Diagnosis is based on the symptoms the child has, especially the poor muscle control and the tiny red lesions on the eyes and face. The gene for ataxia telangiectasia has been identified, so genetic testing can be done to verify the diagnosis. Children are usually diagnosed sometime in early childhood (between ages 2-1/2 to 7 years old).

Treatment
There is at present no cure for ataxia telangiectasia, or way to slow down the progress of the disease. Treatment is aimed at relieving symptoms and trying to prevent respiratory infections, which are often the cause of death. Unfortunately, the outlook isn't very good; children with the disorder generally do not live beyond their teens or early 20s.

source: rarediseases.about.com

Asperger Syndrome

Definition: Rediscovered as a diagnosis in the 1980's, Asperger Syndrome is at the high end of the autism spectrum. Individuals with Asperger Syndrome may be very bright and capable, but may also have serious difficulties with social interaction, or have unusually low tolerance for loud noise, bright lights, crowds, etc. Because it is relatively mild, Asperger Syndrome is often diagnosed in older children and even adults. It is sometimes called the "Little Professor Syndrome" or "Geek Syndrome."

Pronunciation: ahs-perg-er sin-drom
Also Known As: Asperger's Syndrome, AS, Little Professor Syndrome, Geek Syndrome
Alternate Spellings: Asperger's Syndrome

Researchers believe both Albert Einstein and Isaac Newton may have had Asperger syndrome, a developmental disorder in the autism spectrum. Professor Simon Baron-Cohen, of the Autism Research Centre at Cambridge University, and Ioan James, of Oxford University, studied the behavior of both famous scientists. The researchers felt Einstein and Newton displayed personality traits characteristic of Asperger syndrome.

Asperger a recent diagnosis
Although the behaviors known as Asperger syndrome were first described in the 1940s, the diagnosis was not officially recognized until 1994. Since Einstein and Newton lived before then, it is difficult to come to a definitive answer, since neither can be questioned or examined now.

Behavior:
1. Limited but intense range of interest, especially specific intellectual areas.
2. Difficulty in social relationships, especially responding appropriately to others.
3. Problems communicating, such as difficulty making conversation or understanding others

The researchers pointed out that Einstein was a loner as a child and often repeated sentences obsessively until he was seven years old. His career was centered on complex mathematical topics. He gave very confusing lectures.

As for Newton, the researchers noted that he hardly spoke, had few friends and was often bad-tempered around them. He often became so engrossed in his work (the science of physics) that he forgot to eat. He always gave his scheduled lectures, even if no one came.

Others not convinced
Others feel that the case is weak for the diagnosis of Asperger syndrome for either scientist. "One can imagine geniuses who are socially inept and yet not remotely autistic," said Dr. Glen Elliott, a psychiatrist at the University of California at San Francisco, in an interview published by BBC News. Without Einstein or Newton here to ask, it's difficult to be certain.