Maffucci Syndrome

Maffucci syndrome is a disorder which affects the skin and skeleton, causing benign cartilage tumors, bone deformities, and dark hemangiomas to develop. Despite these symptoms, individuals with Maffucci syndrome usually have a normal life span. Less than 200 cases of Maffucci syndrome have been published in the medical literature, so it is difficult to determine how often the syndrome occurs. The reports show it affects both males and females.

Symptoms
Maffucci syndrome has three main types of symptoms.

* Venous malformation (hemangioma) – These may be superficial or deep. If in the skin they often protrude as soft bluish bumps (nodules).
* Benign cartilage tumor (enchondroma) – These may appear anywhere in the body, but are most often found on the hands or feet, or long bones of the arms or legs. The enchondroma may cause the bone to weaken and break (pathologic fracture). About 30% of enchondromas may develop into cancerous tumors (chondrosarcomas).
* Bone deformities – This may include shortened length of the long bones, resulting in unequal arm or leg lengths. Bones may also break because they are weak, and when they heal, they may not align well (malunion).

Diagnosis
The symptoms of Maffucci syndrome seem to start in childhood, with parents often noticing hemangiomas of the skin in an affected child as early as age 4 or 5 years. The skin and bone growths develop slowly over time. Diagnosis of Maffucci syndrome is based on the symptoms present, since there is no specific laboratory test for the disorder.


Treatment
No medical care is needed for Maffucci syndrome. However, individuals affected by the syndrome need to have regular physical examinations to evaluate changes in the skin and bone lesions. In particular, health care providers should watch for changes that signal the development of a malignant tumor (chondrosarcoma). An orthopedic surgeon will evaluate bone changes and pathologic fractures, and a dermatologist will evaluate skin hemangiomas.



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Sjogren's Syndrome

Sjogren's syndrome is a condition which is often misdiagnosed or undiagnosed. Awareness and recognition of Sjogren's syndrome is important.

Experts believe 1 to 4 million people have the disease. Of this group, 90% are women. Sjogren's syndrome can occur at any age, but it usually is diagnosed after age 40 and can affect people of all races and ethnic backgrounds. Sjogren's syndrome is rare in children, but it can occur.

Many women have the disease but do not recognize the symptoms which are similar to those of other conditions including menopause.

Symptoms

It has been suggested that many more people suffer with Sjogren's syndrome than have been diagnosed. Sjogren's syndrome is considered to be:

* an autoimmune disease
* a rheumatic disease
* a connective tissue disorder

Abnormal production of autoantibodies in the blood which turn against various tissues in the body cause the disease. Inflammation in the glands of the body results from this abnormality.

Sjogren's syndrome is characterized by:

* dry mouth
* dry eyes
* hoarseness
* vaginal dryness
* skin dryness
* chronic fatigue

Diagnosis

The diagnosis of Sjogren's syndrome is based largely on the detection of dry eyes and mouth. Helpful diagnostic tools that serve in making the diagnosis include:

* Schirmer's test for dry eyes
* radiologic salivary scans
* salivary flow testing
* biopsy of salivary glands
* blood tests


Treatment

Treatment of Sjogren's syndrome is different for each person, depending on what parts of the body are affected. Although there is no cure for Sjogren's syndrome, mouthwashes, saliva substitutes, sprays, gels, and gum can relieve oral symptoms. Medications and drug treatment options for dry mouth associated with Sjogren's syndrome may include saliva and mucus stimulating drugs such as:

* Salagen (Pilocarpine hydrochloride)
* Evoxac (Cevimeline HCI)

Artificial tears and eye ointments can help relieve chronic dry eyes. Medications and drug treatment options for dry eye associated with Sjogren's syndrome may include:

* Restasis (Cyclosporine Opthalmalic Emulsion)
* Hydroxypropyl Cellulose (Eye Drops & Pellets)

Extraglandular problems, such as joint pain or muscle pain involvement, are often treated with NSAIDs (non-steroidal anti-inflammatory drugs). Lung, kidney, blood vessel, or nervous system problems may be treated with:

* corticosteroids
* DMARDs (disease-modifying anti-rheumatic drugs) or immunosuppressives





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Patau Syndrome (Trisomy 13) Extra copy of chromosome 13

Patau syndrome, Trisomy 13, is the least common of the autosomal trisomies, after Down syndrome (Trisomy 21) and Edwards syndrome (Trisomy 18). The extra copy of chromosome 13 in Patau syndrome causes severe neurological and heart defects which make it difficult for infants to survive. The exact incidence of Patau syndrome is not known, although it appears to affect females more than males, most likely because male fetuses do not survive until birth. Patau syndrome, like Down syndrome, is associated with increased age of the mother. It may affect individuals of all ethnic backgrounds.

Newborns with Patau syndrome share common physical characteristics:

* Extra fingers or toes (polydactyly)
* Deformed feet, known as rocker-bottom feet
* Neurological problems such as small head (microcephaly), failure of the brain to divide into halves during gestation (holoprosencephaly), severe mental deficiency
* Facial defects such as small eyes (microphthalmia), absent or malformed nose, cleft lip and/or cleft palate
* Heart defects (80% of individuals)
* Kidney defects

Diagnosis
The symptoms of Patau syndrome are evident at birth. Patau syndrome may be mistaken for Edwards syndrome, so genetic testing should be done to confirm the diagnosis. Imaging studies such as computed tomography (CT) or magnetic resonance imaging (MRI) should be done to look for brain, heart, and kidney defects. An ultrasound of the heart (echocardiogram) should be done given the high frequency of heart defects associated with Patau syndrome.

Treatment
Treatment of Patau syndrome focuses on the particular physical problems with which each child is born. Many infants have difficulty surviving the first few days or weeks due to severe neurological problems or complex heart defects. Surgery may be necessary to repair heart defects or cleft lip and cleft palate. Physical, occupational, and speech therapy will help individuals with Patau syndrome reach their full developmental potential


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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