Atypical Presentation of Systemic Arthritis in a Toddler with Down Syndrome.

Systemic juvenile idiopathic arthritis (sJIA) is a chronic, inflammatory disease of childhood, which is characterized by the combination of arthritis, serositis, daily, high-spiking fevers, and evanescent macular rash and can present with the life-threatening complication of macrophage activation syndrome (MAS). Children with Down syndrome (DS) have complex medical challenges related to abnormalities in their immune system, which can cause a broad spectrum of disease manifestations, which can occur atypically. Children with DS are at increased risk for arthritis and interstitial lung disease (ILD) associated with sJIA that has high mortality. This case report outlines an atypical presentation of sJIA in a 21-month-old male with DS in which fever was not part of the initial presentation of sJIA and then later developed MAS and ILD. Due to broad spectrum of disease and atypical presentation in children with DS, this case report was created to increase awareness of atypical presentations of rheumatic disease in children with DS.

Left ventricular diastolic dysfunction: identifying presence by left atrial function

Objective: The left atrium (LA) is exposed to left ventricular pressure during diastole. Applying the 2016 American Society of Echocardiography left ventricular diastolic function (LVDF) guidelines, this study aims to investigate whether left atrial ejection fraction (LAEF) and left atrial active emptying fraction (LAAEF) are markers of diastolic dysfunction (LVDD). Methods: Retrospective cohort of consecutive patients (n = 124) who underwent transthoracic echocardiography were studied. Doppler peak velocities of passive (MV E) and active filling (MV A) were measured and ratio E/A calculated. Tissue Doppler imaging parameters of peak early (e') of the septal and lateral mitral annulus were measured, and average E/e' ratio (E/e') was calculated. Tricuspid regurgitation velocity, left atrial maximum volume, left atrial minimum volume and LA volume pre-contraction were measured, allowing calculation of LAEF and LAAEF. Subjects were assigned LVDF categories. Results: Binomial logistic regression model (X2(2) = 48.924, P < 0.01) determined that LAEF and LAAEF predicted diastolic dysfunction with sensitivity 85.5% and specificity 78%. ROC curves determined good diagnostic accuracy for LAEF and LAAEF to predict LVDD, AUC 0.826 and 0.861 respectively. Logistic regression model (X2(2) = 39.525, P < 0.01) predicted those patients with E/e' ≥14 using LAEF and LAAEF with sensitivity 51.6% and specificity 92.4%. Moderate correlations were found between E/e' and log derivatives of LAEF and LAAEF. Conclusions: A decline in LAAEF and LAEF is associated with worsening LVDD.