immune disorders
Chédiak Higashi Syndrome
Symptoms of Chédiak Higashi Syndrome
In Chédiak-Higashi syndrome, little or none of the pigment melanin is formed (called Albinism ). Melanin gives skin, eyes, and hair their color. Typically, the skin is pale, the hair is light-colored or white, and the eyes may be pink or pale blue-gray. The disorder may also cause vision problems. For example, the sharpness of vision (acuity) may be reduced, and the eyes may be sensitive to light (photosensitivity). Nystagmus, which causes blurred vision, is common. In nystagmus, the eyes repeatedly move rapidly in one direction, then drift slowly back to their original position. Chédiak-Higashi syndrome also commonly causes mouth sores, gingivitis, and periodontal disease. People with Chédiak-Higashi syndrome also have many infections. The infections usually involve the respiratory tract, skin, and membranes lining the mouth. In about 80% of people, Chédiak-Higashi syndrome progresses, causing fever, Jaundice in Adults (a yellow color of the skin and eyes), an enlarged liver and spleen, swollen lymph glands, and a tendency to bleed and bruise easily. The disorder can also affect the nervous system, causing weakness, clumsiness, difficulty walking, and seizures. Once these symptoms develop, the syndrome is usually fatal within 30 months. 