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Chediak-Higashi syndrome


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Transcript of Chediak-Higashi syndrome

Nervous Chediak-Higashi Syndrome Symptoms To diagnose Chediak-Higashi syndrome officialy the doctor will perfom a physical exam, to look for evidence of a swollen spleen or liver or jaundice. (jaundice is just a yellow skin tone) Then he will take a series of tests including a test to find out the exact bood cell count, including white blood cells, a blood platelet count, a brain MRI or CT, an EEG, which is a series of probes to find out the electric activity of your brain, and an EMG, a test to discover the electric activity of your muscles, and a nerve conduction test. Diagnosis! The Integumentary System Chediak-Higashi Syndrome is often associated with albinism. Though people with CHS appear to be albino, with no other problems, they are a different kind of albino. There is two different kinds of albinism. Type 1 albinism is caused by defects that affect production of pigment and melanin. Type 2 albinism is due to a defect in the "P" gene, causing only slight coloring at birth.
The albinism that is part of Chediak Higashi sydrome is different than the normal types. It only affects certain body parts, while the others affect all body parts. Integumentary System There is many symptoms for Chediak-Higashi Syndrome,
but the main three are Albinism, (silver hair, very pale skin tone, light blue eye color), Increased infections in the lungs, skin, and mucous membranes, and jerky eye movements. (also called nystagmus)

Other, more rare symptoms are decreased vision, intulectual disabilities, muscle weakness, nerve problems in all limbs, (or peripheral neuropathy), nosebleeds and easy bruising, numbness in some limbs, tremors, seizures, a high sensitivity to bright light, (or photophobia), and unsteady walking, (or ataxia). of Chediak-Higashi Syndrome Treatment! There is no official treatment for CHS, but bone marrow transplants have been effective in some patients. Most people with CHS never live past the age of ten, so there barely any time to test treatments. How a doctor would diagnose Chediak-Higashi syndrome Chediak-Higashi Syndrome Integumentary System The integumentary system contains the largest organ in the human body, your skin, as well as your hair, and your nails. The outer layer of your skin is called epidermis, the next level is called dermis, and the deepest level is called the subcutaneous layer. The epidermis is just a layer of dead cells, 30-40 cells thick. The dead cells are keratinized, which makes them waterproof. The next level, the dermis has its own blood supply, which allows more complex structures to exist there. The dermis is where hair roots and sweat glands are. By the time hair reaches the outside of the epidermis, it is also completely dead. The dermis is where collagen fibers are, which make skin strong and elastic. The last layer, the subcutaneous layer, is just a thick layer of adipose tissue, there to provide a cushion for the delicate organs beneath it, as well as aiding in the regulation of the body's temperature. MEOW Albinism Bibliography http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002289/



http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002450/ If you sneezed during this prezi, bless you! Bless your face... Do do do do do do do favourite!

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