Case Report of Unusual Manifestation of Mevalonate Kinase Deficiency Syndrome Mimicking Juvenile Idiopathic Arthritis With Systemic Onset.

The article in the International Journal of Rheumatic Diseases discusses a case report of a 14-year-old girl with Mevalonate Kinase Deficiency Syndrome (MKD) that presented with symptoms resembling Juvenile Idiopathic Arthritis (JIA). The patient experienced chronic arthritis, systemic inflammation, and other symptoms typical of MKD, leading to a delayed diagnosis. Treatment with canakinumab resulted in significant symptom improvement. The study highlights the importance of genetic testing in patients with systemic inflammation to rule out monogenic autoinflammatory disorders. [Extracted from the article]