Protocol Number: 03-AR-0173
Patients with this rare disease usually develop a chronic rash in the first days to weeks of life that can affect the entire body. Almost all patients have eye problems such as inflammation, optic atrophy, or swelling of the optic nerve. Joint problems can lead to severe disability. Nervous system problems can include chronic meningitis, brain atrophy, seizures, mental retardation, migraine headaches, hearing loss and others. Patients with NOMID whose symptoms include a rash since birth along with one of the following: joint disease or bone overgrowth; central nervous system problem, eye problems, enlarged liver and spleen, or elevated inflammatory markers (substances that indicate inflammation) may be eligible for this study. Participants will be admitted to the NIH Clinical Center for 3 to 4 days for the following tests: - Medical history and physical, neurological, and eye examinations. - Hearing test. - Completion of quality of life questionnaires. - Evaluation of memory and learning ability. - Urine test. - Blood tests for genetic analysis, HIV infection, and other laboratory values. - Blood test to evaluate growth hormones in order to learn more about how inflammation affects the patient's growth. For this test, a small amount of blood is drawn every 20 minutes for 8 hours while the patient is sleeping. The tests show if the rhythm of growth hormone and other substances in the body is normal. This test is optional. - Lumbar puncture (spinal tap) to collect cerebrospinal fluid (CSF) from the spinal canal. For this procedure, a local anesthetic is given and a needle is inserted in the space between the bones in the lower back where the CSF circulates below the spinal cord. A small amount of fluid is collected through the needle. - Skin biopsy (surgical removal of tissue for microscopic examination) to characterize the rash and learn more about what causes it. The biopsy area is numbed and the superficial top layers of skin are shaved. - Photographs of the patient in a bathing suit or underwear. These pictures are taken to document the skin rash and joint changes. - X-rays and magnetic resonance (MRI) scans of the knees or other affected joints. X-rays will be done in patients who do not have recent x-rays (within the past 3 months) available. MRI will be done in patients who can lie in the scanner without requiring sedation. - Brain MRI to evaluate the central nervous system involvement, done only in patients who can lie still for 45 minutes. - Bone density scan to evaluate bone mineralization. Rehabilitation evaluation to assess hand coordination, the ability to walk, and other functions.
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National Institutes of Health Clinical Center
Bethesda, Maryland 20892. Last update: 09/16/2008
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