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Neonatal Onset Multisystem Inflammatory Disease
Wednesday, 03 September 2003
Monday, 12 January 2004
NOMID, CINCA

What

Neonatal Onset Multisystem Inflammatory Disease (NOMID) is a genetic disorder that results in the immune system inappropriately attacking the body’s own tissues, especially cartilage. The inflammation leads to rash, joint deformities, and severe neurologic problems. The disorder begins shortly after birth. This disease is called CINCA in Europe.

Who

The disease was originally described in France, and many of the patients are from Europe, however, it has been found in other countries and in different races. While there may be some tendency for it to appear in families, most children do not have any other affected members in their family. Boys and girls are equally affected. Overall, the disease is extremely rare.

Signs and Symptoms

The symptoms of the disease begin before age 3 months in almost all children. There is some variability between patients in terms of what symptoms they have. In about 50% there is arthritis, leading 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 like hives, but is not itchy. The rash, in particular, starts in the first months of life. Most patients eventually have neurologic problems, like headache, 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.

Possible Causes

The disease is caused by a broken gene, called CIAS1, that is known 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 that problem was not inherited, even though it is a genetic disease. The problem with the gene arose in the children themselves. This gene is involved in controlling the immune system, which is why the broken gene leads to out-of-control inflammation.

Diagnosis

The diagnosis is based on observing the patient and finding the constellation of symptoms and signs described above. A few blood tests help, by showing signs of long-standing inflammation. There is not a specific test for the disease, though now that the gene that causes the disease is known, that may change.

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 effects 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.

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, and infections, and some develop deposits of protein called amyloid, which can lead to kidney failure and other problems. The neurologic problems are the 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.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

NOMID home page
A very well organized website with information about the disease and medications currently being used. There are also case reports, parent stories, opportunities for support and links to other helpful sites.

Google Search for Neonatal Onset Multisystem Inflammatory Disease

References and Sources

pw1.netcom.com/~jkbarton/nomid/Html/nomid_home_page.htm orphanet.infobiogen.fr/data/patho/FR/fr-cinca.html www.bdid.com/CINCA.htm cisat.isciii.es/er/prg/er_bus2.asp?cod_enf=2926