A 6-month-old infant presents with a pseudo-TORCH phenotype, including microcephaly, hepatosplenomegaly, and severe developmental regression since birth. Neuroimaging reveals basal ganglia calcifications and cerebral atrophy. Laboratory evaluation shows elevated interferon-alpha in cerebrospinal fluid and a positive interferon signature on blood testing. What is the most likely diagnosis?
A new pediatric resident is starting a rotation in a pediatric rheumatology clinic. While expecting to see many cases of Juvenile Idiopathic Arthritis and Systemic Lupus Erythematosus, what is actually the most common problem referred to pediatric rheumatology clinics?
A 12-year-old girl with a family history of Behçet disease is being evaluated for recurrent oral and genital ulcers. You consider the strong genetic contribution to this disease. Which Human Leukocyte Antigen (HLA) allele has the most marked association with Behçet disease?
A healthy 10-year-old girl is referred to a pediatric rheumatologist for a positive antinuclear antibody (ANA) test, which was part of a broad workup for intermittent leg pain. She has no fever, rash, joint swelling, or constitutional symptoms. Her physical examination is entirely normal, and she is growing and developing well. What is the most appropriate next step in her management?
A 5-year-old boy has recurrent episodes of high fever (up to 40°C, 104°F) lasting 3-5 days, occurring predictably every 4-6 weeks, accompanied by aphthous ulcers, pharyngitis, and cervical adenitis. A diagnosis of PFAPA syndrome is made. Which of the following is the most effective preventive intervention to reduce the frequency of attacks?
