Sjogren's Syndrome

• Sjogren's ( show grins) syndrome is an autoimmune disorder that is often accompanied by a connective tissue disorder such as rheumatoid arthritis or lupus. The cause is unknown, but factors such as heredity, hormones, infection, and the nervous system can play a part. With this syndrome, the white blood cells attack the moisture producing glands, and in rare cases may even damage lungs, kidneys, and liver. If you have primary Sjogren's, then there is no direct cause, but if you have secondary Sjogren's then it may be from another disease.
  
  This syndrome is hard to diagnose because it mimics other diseases and medication side effects. However, it is more common in women, especially over the age of 40. Signs and symptoms include:



• dry eyes and mouth



• dental cavities



• fatigue



• enlarged parotid gland



• difficulty swallowing/chewing



• change in sense of taste



• hoarseness



• oral yeast infections



• skin rashes or dry skin



• vaginal dryness



• dry, non productive cough



• joint pain, swelling, and stiffness
  

There are different screening tests to diagnose Sjogrens. These include, blood test, eye test, imaging (sialogram, salivary scintigraphy, and chest xray), biopsy, urine sample, and slit lamp exam.

Complications are similar to symptoms, but in rare instance people may develop lymphoma, and peripheral nervous system disorders.

There is no cure, but you can treat the symptoms with a variety of medication. Surgery is sometimes and option. It is also important to increase fluid intake, use of moisturizers, eye drops, and nasal sprays, and have increased humidity.

Sources:

mayoclinic.com

www.orthop.washington.edu

Achondroplasia

Achondroplasia is the most common type of short limbed dwarfism. It is a disorder in bone growth. Though achondroplasia literally means " without cartilage formation," the problem is really the cartilage not forming into bone, especially in the long bones.

Achondroplasia is caused by a FGFR3 mutation. This gene provides the instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. The mutations cause the gene to be overly active. A fetal ultrasound can be done to diagnose this condition, or a physical can be performed once the child is born.

This disorder is inherited through an autosomal dominant pattern, and a parent with achondroplasia has a 50% chance of their child being born with the same disorder. However, 80% of children are born to average size adult parents because of the mutation somewhere in the family genes.

People with achondroplasia are short in stature. The average male is 4'4" and the average female is 4'1". They have an average trunk size, but short arms and legs, especially upper arms and thighs, and have limited elbow movement. They also have an enlarged head and prominent forehead, sway back and bowed legs. People with achondroplasia are prone to having breathingproblems, obesity, and ear infections.


There is no cure or way to prevent for achondroplasia.

References:
http://www.healthsystem.virginia.edu/UVAHealth/peds_diabetes/achondro.cfm
http://ghr.nlm.nih.gov/condition=achondroplasia
http://www.radpod.org/2007/03/30/achondroplasia/
www.lucinafoundation.org

Orbital Blow Out Fractures

An orbital blow out fracture is when the "eye socket" is fractured. The most common injury is done to the floor of the socket, but the wall and roof may also be affected. Blow out fractures are usually a result of blunt force trauma to the eye. The orbital rim is so strong that the impact is usually transferred to the floor of the orbit, which then "blows out." A CT is usually done to better see the fracture. A blow out fracture is evident because it most commonly goes down into the maxillary sinus.

A person with a blow out fracture will experience pain and tenderness around the eye, swelling, and in some cases double vision. If there is double vision, the extra ocular muscles that move the eye may be trapped in the fracture, or it could be due to the swelling and hemorrhaging around the eye. Surgery may be performed within a few days or up to 1-2 weeks is there is muscle entrapment or double vision. During that time, it is recommended that a person not blow their nose. Oral antibiotics may also be given to reduce the chance for infection.

Information was found at http://www.eyemdlink.com/
Picture was found at http://www.learningradiology.com/

Coat's Disease

As seen in my other blogs, I think that I have a knack for choosing pathologies that deal with children or seem to affect pregnant mothers. It is completely coincidental. And yet, I have still managed to randomly pick another that falls within this criteria.

Coat's disease (Exudative Retinitis) is a disorder that affects the retina of the eye. It usually starts as an abnormal growth spurt in the capillaries that supply blood to the retina. It is a progressive disease and is usually found in children, especially boys, within the first ten years of life. In some cases, it is found in young adults. There is no known cause.

Symptoms are vision loss, primarily central vision, but peripheral vision may also be affected. It can lead to mild or total blindness. However, only one eye is usually affected.

These abnormal blood vessels may dilate, malform, or leak, which may cause the retina to swell.

The leaking blood vessels may be treated with laser surgery or cryotherapy. In severe cases, if the retina becomes detached, a virectomy may be performed to replace the vitreous with a gas bubble that can help restore vision. In some cases, the disease may stop progression on its own.

Diagnosis of Coat's disease can be accomplished by looking at the back of the eye, as well as performing fluorescein angiography by injecting contrast to see the blood circulation in the back of the eye. MRI, CT and Ultrasound are also useful.

" Coat’s disease. Color Doppler USG (a) shows a large retinal detachment with hypoechoic subretinal exudates. CT (b) shows diffuse increase in the intraocular density"

Sources:

http://www.rnib.org.uk/xpedio/groups/public/documents/PublicWebsite/public_rnib003642.hcsp

http://www.palmettoretina.com/learn/conditions/coats_disease.html

Image Source:

http://www.ijo.in/viewimage.asp?img=IndianJOphthalmol_2006_54_4_227_27946_29.jpg

Prolactinoma

Prolactinoma is one type of tumor of the pituitary gland. It is almost always non-cancerous. In this case, the pituitary gland overproduces prolactin in the body. There is no known cause. People most affected are under the age of 40. It is more common in women at a younger age; affected men are usually older. Prolcatinoma is rare in children.


Signs and Symptoms

Not everyone with prolactinoma will experience signs and symptoms. The effects are different for men and women, but there are a few that are similar.


Women:

• Irregular menstruation


• Milky discharge from breast when not pregnant or breast feeding
  
• Vaginal dryness noticed during intercourse

Men:

• Erectile dysfunction or impotence


• Loss of body hair


• Enlarged breasts
  

Both:

• Loss of interest in sex


• Headaches


• Infertility


• Low bone density


• Visual Disturbances
  

Women tend to notice symptoms earlier than men, so they rarely experience headaches and visual disturbances. When men detect symptoms, the tumors are usually larger, which leads to those symptoms because of pressure buildup.

Screening

Prolactinoma can be detected in blood tests because of the overproduction of prolactin. CT and MRI images are also helpful.

The above images were found at www.ent.uci.edu/endoscopic_pituitary_tumor.htm

Complications

If untreated, prolcatinoma can lead to vision loss because of pressure on the optic nerve. If the tumor becomes too large, it can effect other hormone productions of the pituitary gland. Women may experience osteoporosis and complications with pregnancy.


Treatment

The two major treatments for prolactinoma are oral medications and surgery. The oral medications given are dopamine agonists bromocriptine and cabergoline. Bromocriptine are more commonly given to women who are wanting or having children because of its proven safety rate. Medications are taken over a long period of time, but if these are ineffective the tumor is usually removed through surgery.

The above images are of a very severe prolactinoma that resulted in death. To find out more about this case, visit

http://www.endotext.org/neuroendo/neuroendo11b/index.html

Sources:

http://www.mayoclinic.com/

Bell's Palsy

If you wake up in the morning and one side of your face is sagging, that might be a bit scary. But, if you are experiencing these symptoms, it could be Bell's Palsy, a condition that usually has a complete recovery.



The symptoms are:

• paralysis on one side of the face
  
• facial droop
  
• difficulty making expressions
  
• pain near or in the ear of affected side
  
• sound louder on affectd side
  
• headache
  
• loss of taste
  
• change in tear and saliva production

So, what causes this? A nerve that controls facial muscles becomes inflamed/swollen and gets piched between bone. That pressure can damage the protective covering of the nerve and interfere in communication between the nerve and facial muscles.

The most common cause is the herpes simlpex virus, but the other viruses that cause chicken pox, shingles, and the Epstein-Barr virus (related to mononucleosis) are also culprits.

Pregnant mothers, diabetics, and those with upper respiratory infections are more at risk.

There are no specific lab tests to confirm diagnosis. Electromyography and CT or MR images are helpful.

Treatment:

Medications for treatment is not always necessary. If something is prescribed, it is most commonly corticosteroids to reduce swelling. Massage and moist heat applications are recommended.

Usually complete recovery is expected within a few months. Complications are rare, but if there is severe damage to the nerve then it may be irreversible. Also, misdirected regrowth of new nerve fibers may cause involuntary contractions.

For more information, please check out the mayoclinic website http://www.mayoclinic.com/

Images found at:

http://www.aurorahealthcare.org/

path.upmc.edu/cases/case112.html

Leigh's Disease

This will be my first of many blogs on pathology, and this one I find particularly depressing.

Leigh's disease (subacute necrotizing encephalomyelopathy) is a progressive neurological disease that degenerates the central nervous system. The sad part is that this rare disease is found in children who are diagnosed between 3 months and 2 years, though there have been few, very rare cases in adults.

Initial symptoms include:

• poor sucking ability
• can't hold head up
• loss of motor skills
• loss of appetite
• vomiting
• irritability
• crying
• seizures

After the disease progresses other symptoms are:

• weakness
• loss of muscle tone
• lactic acid build up in the body and brain that impairs breathing and kidney function
• heart problems

Diagnosis and Treatment:

Diagnosis is usually based on symptoms. There are also tests that show if there is a deficiency in pyruvate dehydrogenase, which would then be treated with a high fat low carb diet. Presence of lactic acidosis is also another symptom. Vitamins such as thiamine are prescribed and well as other medications to treat symptoms.

However, there is no definite cure, and the patients will usually die within 2 years of diagnosis, or by age 6. There have been rare cases of children living into their early teen years. Death is usually from respiratory failure.

In imaging, there are symmetrical patches that are usually on the deep grey matter, but it does not necessarily stay contained there. It is important to image the spinal cord, optic nerve, and peripheral nerve.