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CHEDIAK-HIGASHI SYNDROME

OTHER FACTS:

200 people worldwide have been reported with this disease.

DISEASE OVERVIEW:

can be diagnosed by examining a sample of hair from a fetal scalp biopsy or testing leukocytes from a fetal blood sample.

Chediak-Higashi syndrome is rare disease of the immune and nervous systems. The turn outs from this disease involve pale colored skin, hair, and eyes.

The first case reported was in 1940.

BY: MADELYNN LEBOUEF & ANNA ATKINSON

THE END

SYMPTOMS:

Silver hair, light-colored eyes

COMPLICATIONS

Increased infections in the lungs, skin, & mucous membrane

Jerky eye movements

Frequent infections especially with Epstein-Barr virus

Muscle weakness

Decreased vision

Nerve problems in limbs

Intellectual disability

Lymphoma-like cancer

Nosebleeds or easy bruising

Numbness

Early death

Seizures

Unsteady walking

Sensitive to bright light

PROGNOSIS:

ALTERNATIVE NAMES:

Death within the 1st 10 yrs. of life from infections or accelerated disease that results in lymphoma like illness.

Chediak-Steinbrinck-Higashi Syndrome

Oculocutaneous albinism with leukocyte defect

The terminal phase is not treatable

CHS

WHO HAS BEEN AFFECTED?

Treatments:

PERSIAN CATS

Can have bone marrow transplant if the disease is detected early

HUMANS

MINK

Antibiotics are used to treat infections. Antiviral drugs such as acyclovir and chemotherapy drugs are often used in the accelerated phase of the disease. Surgery may be needed to drain abscesses in some cases.

GENECTIC CAUSE:

MICE

CATTLE

It is inherited through a autosomal recessive pattern, which means each parent carries one of the mutated gene. They don't show any signs or symptoms though.

KILLER WHALES

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