chediak-higashi syndrome…

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chediak-higashi syndrome, inherited disorder, the immune system that results in chronic infection, decreased pigmentation in skin, eyes, neurological disease, early death, chediak-higashi is inherited, an autosomal recessive disease, mutations have been found, in the chs1 gene, primary defect in this disease is in intracellular granules, a granule that contains melanin is not made properly in skin, resulting in decreased skin pigmentation, a neutrophil granule defect, an abnormality, in the granules found in certain types of white blood cells, essential, killing some bacteria, fungi, viruses, immune problems, one of a group of disorders, oculocutaneous albinism, decreased pigment, in the eye, skin, children, inherited the disorder have partial albinism, compared to family members, a silvery sheen, hair, light-colored eyes, jerky eye movements, nystagmus, increased infections, in the lungs, skin, mucous membranes, serious than the pigmentation problems, the effects of this disease on the immune, nervous systems, surviving adults develop unsteady gaits, ataxia, nerve abnormalities, in the limbs, peripheral neuropathy, causing motor, sensory changes, weakness, infection, certain viruses epstein-barr virus, ebv, cause a fatal illness resembling a blood cancer, lymphoma , jerky eye movements, nystagmus, decreased vision, sensitivity to bright light, photophobia, albinism, a lighter complexion than unaffected family members, silvery sheen to hair which fair in color, frequent infections, skin, oral, respiratory, mental retardation, tremor, abnormal walking gait, seizures, numbness, muscle weakness, , blood smear shows giant granules, in the white blood cells, positive, stains, peroxidases, giant granules, found in cells from biopsy of skin, muscle, nervous system, blood platelet, white blood cell levels, abnormally low, physical examination, enlarged spleen, liver, jaundice, genetic testing, mutations, in the chs1 gene, eeg, seizures, brain mri, ct scan, small brain, due to atrophy, emg, nerve conduction velocity testing, delayed nerve conduction, red light reflex, the eye, frequently seen in albinism, present , tests show abnormal immune function, , no specific treatment, chediak-higashi syndrome, bone marrow transplants appear to have been successful in several patients, infections, antibiotics, abscesses, surgically drained, antiviral drugs acyclovir have been tried, terminal phase, cyclophosphamide, prednisone have been tried, vitamin c therapy has improved immune function, clotting, patients, chediak-higashi syndrome association, chediak-higashi, frequent infections of chediak-higashi syndrome cannot be prevented, terminal phase, the illness is not treatable, , frequent infections especially, epstein-barr virus, lymphoma-like cancer, early death, call health care provider, family history of this disorder, planning to have children, child shows symptoms of chediak-higashi syndrome, , genetic counseling, prospective parents, a family history of chediak-higashi, prenatal diagnosis available, disease.