A Challenging Case of Recurrent Fever

Area of Science:

• Pediatrics
• Immunology
• Genetics

Background:

• Syndrome of undifferentiated recurrent fever (SURF) presents as heterogeneous systemic inflammation without clear infection or response to antibiotics.
• Diagnosis is challenging due to a lack of specific clinical or molecular criteria.

Observation:

• A previously healthy, one-year-old male with consanguineous ancestry experienced recurrent fevers with inflammatory markers.
• The patient showed no documented infection, failed antibiotic treatment, and developed corticosteroid dependency.

Findings:

• Autoinflammatory syndrome-targeted next-generation sequencing (NGS) did not reveal pathogenic variants.
• SURF was diagnosed by exclusion, and colchicine treatment proved effective, supporting an autoinflammatory etiology.

Implications:

• This case highlights the importance of considering autoinflammatory disorders in recurrent fever syndromes.
• Advances in genetic testing and understanding immune pathways are crucial for accurate diagnosis and management of SURF.