Abstract

Background: A patient is 50-year-old woman developed pyrexia, conjunctival hyperemia, and urticarial rash at the age of 2 months. In addition to these symptoms, multiple arthralgia, abdominal pain, and aseptic meningitis recurred. Mental developmental regression, sensorial deafness, ulnar side deformities in both hands, and dry mouth also gradually progressed. Marked increases in neutrophil counts and serum C-reactive protein levels persisted. She was clinically diagnosed with neonatal-onset multisystem inflammatory disease at the age of 44 years.

Methods: She underwent whole-exome sequencing analysis of the NLRP3 gene. A point mutation was determined in c.1060G>A.

Results: After the administration of anti-interleukin-1β antibody, her symptoms and acute-phase inflammatory markers markedly improved. Arthralgia after cold exposure and dysphagia persisted; however, they were reduced by improvements in lifestyle factors. Parotid salivary smears continued to show high neutrophil counts and some monocytes, whereas the evidence of bone marrow edema, present before treatment, was no longer observed on magnetic resonance imaging scans.

Conclusions: The latter finding suggests that interleukin-1β play the main role in developing bone marrow edema. To date, no studies have investigated bone marrow edema and salivary neutrophils in patients with neonatal-onset multisystem inflammatory disease.