Neonatal onset multisystem inflammatory disease
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Neonatal Onset Multisystem Inflammatory Disease (also known as NOMID, Chronic Neurologic Cutaneous and Articular Syndrome, or CINCA) is a rare genetic periodic fever syndrome which causes uncontrolled inflammation in multiple parts of the body starting in the newborn period. Symptoms include skin rashes, severe arthritis, and chronic meningitis leading to neurologic damage.
NOMID can result from a mutation in the CIAS1 gene, which helps control inflammation. Mutations in this gene also cause familial cold urticaria and Muckle-Wells syndrome. NOMID has been successfully treated with the drug anakinra.
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[edit] Signs and Symptoms
The symptoms of NOMID begin before age 3 months, in almost all children that have NOMID. There is some variability between patients in terms of what symptoms they have. In about 50% there is arthritis, which leads to contractures (joint deformities). The remainder have some joint pains, but do not end up with joint deformities. Almost all the children are remarkably short. In addition, most patients have a rash, that looks something hives, but is not itchy. The rash, in particular, starts in the first months of life. Most patients eventually have neurological problems, like headaches, seizures or vomiting. The problems come at least partly from inflammation of the lining of the brain (chronic meningitis). Many have inflammation in the eyes as well, which can lead to blindness. Hearing difficulties are also common. Anemia is frequent, and most patients have episodes of fever as well.
[edit] Possible Causes
The disease is caused by a broken gene, called CIASI, that is know to be involved in other syndromes that appear somewhat similar, such as Muckle-Wells syndrome and familial cold urticaria. In many patients, the parents do not have the same broken gene, indicating the problem was not inherited, even though it is a genetic disease. The problem with the broken gene arose in the children themselves. This gene is involved in controlling the immune system, which is why the broken gene is leads to out-of-control inflammation.
[edit] Diagnosis
The diagnosis is based on observing the patient and finding the consellation of symptoms and signs described above. A few blood test help, by showing signs of long standing inflammation. There is no specific test for the disease, though now that the gene that causes the disease is known, that may change.
[edit] Treatment
There have been attempts to control the inflammation using drugs that work in other conditions where inflammation is a problem. The most successful of these are steroids, but they have side affects when used long term. Other medications, including Methotrexate and colchicine have been tried with some success. Otherwise, the treatment is supportive, or aimed solely at controlling symptoms and maximizing function.
[edit] Prognosis
Overall, the prognosis for patients with NOMID is not good, though many live into adulthood, and a few appear to do relatively well. They are at risk for leukemia, infections, and some develop deposits of protein called Amyloid, which can lead to kidney failure and other problems. The neurologic problems are most troubling. The finding that other diseases are related and a better understanding of where the disease comes from may lead to more effective treatments.
[edit] See also
- CIAS1 - gene believed to cause disease
- Familial cold urticaria - Similar disease
- Muckle-Wells syndrome - Similar disease
[edit] External links
- NOMID Alliance -- Non-profit charity devoted to CAPS diseases
[edit] References
- Online 'Mendelian Inheritance in Man' (OMIM) 607115
- Goldbach-Mansky, R. et al. Neonatal-Onset Multisystem Inflammatory Disease Responsive to Interleukin-1{beta} Inhibition N Engl J Med 2006 355: 581-592.