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Hi! I have light blonde hair, blue eyes, and my skin is fair’s have fever, but doctor didn’t find any infection. He suspects that I have CHS. I am 21 years old. Are there some tests to diagnose CHS? I know that this disease can be lethal. Please help me!

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Hi! CHS includes oculocutaneous albinism with photophobia, neurological features, recurrent infections, and enterocolitis. Severe gingivitis and oral mucosal ulceration are common. CHS may present with neurological dysfunction and should be considered in the differential diagnosis of children and young adults first seen with symptoms of spinocerebellar degeneration or movement disorders. There are lab studies which can include peripheral blood smear, bone marrow smears, fluorescence cytometric analysis. CT scans of brain and spinal cord can help to set up diagnose. MRI also can be used. Because, this is very rare disease, there is large possibility that you don’t have this disease. I hope that tests you will have will be negative. Good lack!
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