Infantile multisystem inflammatory disease

Overview

Infantile multisystem inflammatory disease (also known as Neonatal onset multisystem inflammatory disease (NOMID); chronic infantile neurologic, cutaneous, and articular syndrome; Prieur-Griscelli syndrome):is a disorder that causes persistent inflammation and tissue damage primarily affecting the nervous system, skin, and joints. Recurrent episodes of mild fever may also occur in this disorder.

 

Source: Genetic Home Reference

Symptoms

The list of signs and symptoms mentioned in various sources for Infantile multisystem inflammatory disease includes: * Joint pain * Fever * Chronic meningitis * Feeding problems * Vision problems * Deafness * Growth retardation * Mental retardation * Rash * Arthritic changes * Adenopathy * Delayed fontanel closure * Enlarged head * Enlarged liver * Enlarged spleen * Protruding eyeballs * Anemia * Increased number of white blood cells in blood * Pleocytosis * Osteoporosis * Swollen ends of long bones * Joint contracture * Large skull * Protruding forehead

Causes

Mutations in the NLRP3 gene (also known as CIAS1) cause NOMID in about 50% of cases. The NLRP3 gene provides instructions for making a protein called cryopyrin.

Cryopyrin functions in the immune system by helping to regulate the process of inflammation. Researchers believe that NLRP3 mutations that cause NOMID result in a hyperactive cryopyrin protein and an inappropriate inflammatory response. Impairment of the body's mechanisms for controlling inflammation results in the episodes of fever and widespread inflammatory damage to the body's cells and tissues seen in NOMID.

In about 50 percent of individuals diagnosed with NOMID, no mutations in the NLRP3 gene have been identified. The cause of NOMID in these individuals is unknown.

Source: Genetics Homw Reference

Diagnosis

Home medical testing related to Infantile multisystem inflammatory disease: * Cold & Flu: Home Testing: o Home Fever Tests o Home Ear Infection Tests o Home Flu Tests

Prognosis

Prognosis of Infantile multisystem inflammatory disease: poor

Treatment

* Womens Health Specialists: o Obstetrics & Gynecology o Reproductive Endocrinology & Infertility o Gynecological Oncology o Maternal & Fetal Medicine o Neonatal-Perinatal Medicine * Child Health Specialists (Pediatrics): o Pediatrics (Child Health Specialist) o Adolescent Medicine (Teen Health) o Pediatric / Adolescent Psychiatry o Pediatric Allergy and Immunology o Pediatric Cardiology o Pediatric Critical Care Medicine o Pediatric Dentistry o Pediatric Dermatology o Pediatric Developmental Behavioral Health o Pediatric Emergency Medicine o Pediatric Endocrinology o Pediatric Gastroenterology o Pediatric Hematology / Oncology