NLRP12- associated autoinflammatory disorder: case report

Methods E.M., 4 years old, comes to our observation because of the presence of recurrent episodes of fever lasting 4-5 days,since about one year, every 15 days, associated with diarrhea, urticaria-like rush decreasing spontaneously, mainly on the back and lower limbs. From November 2012 to April, the patient presented daily fever (Tmax 40°C) associated with worsening rush, arthralgia and arthritis of knees and ankles , edema of eyelids and lips and palmar angioedema during 7 days. From April 2013, every 15 days, the child had again febrile episodes (Tmax 40°C) lasting about seven days with the associated symptoms already described. Each episode has been exclusively cured with Paracetamol. Blood tests revealed just a small increase of the inflammatory indexes. After excluding other common causes of persistent and recurrent fever in the pediatric age, we suspected an autoinflammatory disease. Then , we directed the patient to a third level structure, where analysis of the CIAS1 gene have been carried out. Suspecting strongly an autoinflammatory disease, the NLRP12 gene has been examined too. Analysis of the CIAS1 gene didn’t reveal pathological mutations, while the analysis of NLRP12 gene resulted positive. Results Considering the clinical feature associated with increase of inflammatory indexes and the genetic analysis outcomes, the diagnosis of disease was NLRP-12 associated autoinflammatory disorder (NLRP12AD).