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System: Part XIV: Rheumatic Diseases of childhood

An adolescent presents with pain in his arm that he describes as related to his activities as a baseball pitcher. His physical examination is notable for tenderness over the elbow but no swelling or warmth is noted. Which feature of his history is most characteristic of a mechanical or overuse-related pain syndrome?

A 10-year-old girl with recurrent parotitis undergoes evaluation for Sjögren syndrome. A biopsy is planned to confirm the diagnosis and demonstrate focal lymphocytic infiltration. In children, which biopsy site is more likely to yield a diagnostic result compared to the standard site used in adults?

The parents of an adolescent newly diagnosed with Systemic Lupus Erythematosus (SLE) ask about the cause of the disease. The resident explains that while the exact pathogenesis is unknown, there are several known risk factors. The association of SLE with specific genetic variants, such as congenital deficiencies of early complement components, most strongly supports which etiologic concept?

A 14-year-old boy with genetically confirmed familial Mediterranean fever (FMF) continues to experience 4-5 attacks per month despite escalation to the maximum tolerated dose of colchicine. His attacks involve severe abdominal pain, fever to 39.5°C (103.1°F), and arthritis. Laboratory evaluation during attacks shows markedly elevated serum amyloid A. Which biologic agent has the strongest evidence from randomized controlled trials for efficacy in colchicine-resistant FMF?

A 7-year-old girl is brought in for evaluation of fatigue and difficulty climbing stairs. On examination, she has erythematous papules over her knuckles and a purplish discoloration of her eyelids. Which diagnosis do these pathognomonic findings suggest?

A 3-year-old boy presents with a one-year history of a non-itchy rash, recurrent fevers, and painful, swollen ankles and wrists. On examination, you note boggy, painless synovitis and an erythematous papular rash. Which of the following conditions is most likely in this young child?

A medical student is reviewing the molecular pathogenesis of familial Mediterranean fever (FMF) for a presentation. She learns that FMF is caused by mutations in the MEFV gene encoding the pyrin protein, which plays a critical role in regulating inflammation. In the pathophysiology of FMF, what is the primary consequence of MEFV gene mutations on pyrin function?

A 9-year-old girl from a rural area presents with migratory polyarthritis, fever, and a new-onset systolic murmur. Her antistreptolysin O titer is elevated at 640 Todd units, and echocardiography reveals mitral regurgitation. A diagnosis of Acute Rheumatic Fever is confirmed. After completing anti-inflammatory therapy for the acute episode, what is the most appropriate long-term management strategy to prevent recurrent attacks?

During the repeated physical examination of an adolescent with a 4-week history of fever of unknown origin, you place immersion oil on the skin adjacent to the nailbed and use an ophthalmoscope set to +40 to observe the area. The discovery of abnormal nail-fold capillaries with this technique would be a clue pointing towards which category of diseases?

A 3-year-old girl is diagnosed with oligoarticular juvenile idiopathic arthritis affecting her left knee and right ankle. Her laboratory evaluation is positive for antinuclear antibodies but negative for rheumatoid factor. For which extraarticular complication is this patient at the highest risk?

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