Juvenile Retinoschisis

Causes progressive loss of vision.

X-linked juvenile retinoschisis is a genetic disorder of the X chromosome. A gene identified as being responsible for juvenile retinoschisis, RS1, encodes an amino acid protein, retinoschisin, which is important in photoreceptor cells of the eye. Physical changes occur in the retina, the part of the eye responsible for vision. The retina splits into two layers, which impairs vision.

Since juvenile retinoschisis is an X-linked recessive disorder, it occurs primarily in boys (since they have only one X chromosome), but it can occur in females with two defective genes (one on each of their two X chromosomes). Juvenile retinoschisis occurs in individuals of all ethnic backgrounds.

Symptoms
Children with juvenile retinoschisis have gradually decreasing vision due to splitting of the retina. Physical changes in the eye may include:

* development of cysts and ruptured blood vessels between the layers of the retina
* holes in the retinal layers, which may lead to detachment of the retina from its underlying tissue (5-22% of individuals)
* leakage of blood into the jelly-like material inside the eye (vitreous hemorrhage)
* changes in the macula, the area of clearest vision in the retina.

Individuals with juvenile retinoschisis may also have difficulty focusing on an object (strabismus) and roving, involuntary eye movements (nystagmus).

Diagnosis
A thorough ophthalmological evaluation can help distinguish juvenile retinoschisis from similar retinal degenerative diseases such as retinitis pigmentosa. An imaging technique called optical coherence tomography (OCT) provides high-resolution cross-sectional images of the macula to look for abnormalities. OCT can show the changes present in juvenile retinoschisis. An electroretinogram will show dysfunction throughout the retina. Genetic testing can reveal the presence of the defective RS1 gene.

Treatment
No treatment is yet available to stop the progression of juvenile retinoschisis. Surgery can repair vitreous hemorrhage and retinal detachments. Low-vision aids, mobility training, and adaptive training skills can help individuals with vision loss. Genetic counseling can help identify family members who are carriers of the RS1 gene.


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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.