Rice body synovitis in pediatrics: three different case reports.

Rice body synovitis (RBS) is a rare disease, especially in children. Rheumatoid disorders and tuberculosis are the first two reasons for the formation of the RB. The diagnosis is mainly based on imaging and histopathological features. Herein, we report three cases of RBS in children diagnosed with congenital synovial chondromatosis, tuberculosis (unconfirmed), and ANA -positive juvenile idiopathic arthritis. Clinical features, radiographic findings, pathophysiology, treatment process, and prognosis were reviewed and documented meticulously to enhance cognition in this population and provide some references for clinicians in diagnosing and treating the disease.

Optic Neuritis in a Pediatric Patient with Kikuchi-Fujimoto Disease: A Case Report and Review of the Literature.

Kikuchi-Fujimoto disease (KFD), also known as histiocytic necrotizing lymphadenitis, is a rare, benign, and self-limiting condition characterized by lymph node inflammation. While KFD is rarely associated with ocular manifestations, our case report highlights bilateral optic neuritis in a 13-year-old male patient with KFD. We also provide a comprehensive review of similar cases in the literature.

Burkitt's lymphoma in a young boy progressing to systemic lupus erythematosus during follow-up: a case report and literature review.

Introduction: Patients with systemic lupus erythematosus (SLE) are at a higher risk of developing cancer, particularly hematological malignancies such as lymphoma and leukemia. However, existing studies on this topic that assess cancer incidence following SLE diagnosis are limited. In addition, SLE can be diagnosed after cancer, although such cases in children have been rarely reported. Case report: We present the case of a 2.6-year-old boy who presented to our institute with fever and abdominal pain. His physical examination revealed a periumbilical mass, which was pathologically diagnosed as Burkitt's lymphoma. Autologous stem cell transplantation was performed to consolidate the effect of chemotherapy and reduce the risk of cancer relapse. He was diagnosed with SLE 5 years later, following the presentation of a fever with rash, positive autoantibodies, decreased complement, and kidney involvement. At the final follow-up, the patient was still alive and showed no recurrence of Burkitt's lymphoma or disease activity of SLE. Conclusion: Despite the low frequency of SLE in children with lymphoma, cancer and SLE may be induced by a common mechanism involving B-cell cloning and proliferation. Therefore, hematologists and rheumatologists should be aware of the occurrence of these two conditions during patient follow-up.

Libman-Sacks endocarditis in a child with systemic lupus erythematosus: a case report and literature review.

Libman-Sacks endocarditis (LSE) is a cardiac condition characterized by the growth of verrucous vegetation. Although relatively rare in children, LSE is nevertheless a known cardiac manifestation of autoimmune diseases, including systemic lupus erythematosus (SLE). The mitral valve is the most commonly affected region, followed by the aortic valve, while the tricuspid and pulmonary valves are rarely affected. The management of established Libman-Sacks vegetation poses significant challenges, often necessitating surgical interventions, although surgery is not the primary treatment modality. Herein, we present the case of a 14-year-old Chinese female patient whose initial lupus manifestation included LSE, among other symptoms and signs that provided insights into the final diagnosis of SLE. After early comprehensive pharmacological treatment, tricuspid regurgitation and vegetation disappeared within 28 days without necessitating cardiac surgery, indicating that the resolution of LSE vegetation in this patient was achieved through a combination of immunosuppressive and anticoagulant therapy. These findings suggest the potential of this treatment approach as a viable model for the management of LSE in young patients.

Corrigendum: Comparison of cardiac function between single left ventricle and tricuspid atresia: assessment using echocardiography combined with computational fluid dynamics.

[This corrects the article DOI: 10.3389/fped.2023.1159342.].

Major Infections of Newly Diagnosed Childhood-Onset Systemic Lupus Erythematosus.

Objective: To evaluate the risk of major infections in children with newly diagnosed childhood-onset systemic lupus erythematosus (cSLE). Methods: Predictors of major infections were identified by the multivariable logistic regression. Major infection free was defined as no major infection events within 6 months after the diagnosis of cSLE. The Kaplan-Meier survival plot was performed. A prediction model for major infection events was established and examined by receiver operating characteristic (ROC) curve analysis. Results: A total of 98 eligible patients were recorded in the medical charts. Sixty-three documented events of major infections were found in 60 (61.2%) cSLE patients. Furthermore, 90.5% (57/63) of infection events occurred within the first 6 months after the diagnosis of cSLE. The high SLEDAI (SLEDAI >10), lupus nephritis and lymphocyte count <0.8×109/L were predictors for major infections. The CALL score (Children with high disease activity [SLEDAI >10], lymphopenia, and LN) was defined by the number of predictors. Patients were then categorized into two groups: low-risk (score 0-1) and high-risk (score 2-3). Patients in the high-risk group had higher rates of the major infection occurrence than those in the low-risk group during the 6 months after the diagnosis of the cSLE (P<0.001) (HR:14.10, 95% CI 8.43 to 23.59). The ROC curve analysis indicated that the CALL score was effective both in the whole cSLE cohort [area under the curve (AUC) = 0.89, 95% CI: 0.81-0.97] and in the subgroup of lung infections (n = 35) (AUC = 0.79, 95% CI: 0.57-0.99). Conclusion: High disease activity, LN and lymphopenia were predictors for major infections in newly diagnosed cSLE patients. Specific predictors help identify the cSLE patients with the high risk of major infections. The CALL score could be a useful tool to stratify cSLE patients in practice.

Comparison of cardiac function between single left ventricle and tricuspid atresia: assessment using echocardiography combined with computational fluid dynamics.

Patients with single left ventricle (SLV) and tricuspid atresia (TA) have impaired systolic and diastolic function. However, there are few comparative studies among patients with SLV, TA and children without heart disease. The current study includes 15 children in each group. The parameters measured by two-dimensional echocardiography, three-dimensional speckle tracking echocardiography (3DSTE), and vortexes calculated by computational fluid dynamics were compared among these three groups. Twist is best correlated with ejection fraction measured by 3DSTE. Twist, torsion, apical rotation, average radial strain, peak velocity of systolic wave in left lateral wall by tissue Doppler imaging (sL), and myocardial performance index are better in the TA group than those in the SLV group. sL by tissue Doppler imaging in the TA group are even higher than those in the Control group. In patients with SLV, blood flow spreads out in a fan-shaped manner and forms two small vortices. In the TA group, the main vortex is similar to the one in a normal LV chamber, but smaller. The vortex rings during diastolic phase are incomplete in the SLV and TA groups. In summary, patients with SLV or TA have impaired systolic and diastolic function. Patients with SLV had poorer cardiac function than those with TA due to less compensation and more disordered streamline. Twist may be good indicator for LV function.

The plasma levels of Dickkopf-1 elevated in patients with Juvenile Idiopathic Arthritis.

BACKGROUND: To explore the role of two major inhibitors of Wnt signal pathway, Dickkopf-1(DKK-1) and Sclerostin (SOST), in the pathogenesis of juvenile idiopathic arthritis (JIA). METHODS: 88 patients with JIA, which including 49 patients with enthesitis-related arthritis (ERA), 21 oligoarthritis (oJIA) and 18 polyarthritis (pJIA), and 36 age-and sex-matched children as healthy controls (HC) were enrolled in this study. The plasma levels of DKK-1 and SOST, measured using commercially available ELISA kits, were analyzed the correlation between the levels of DKK-1/SOST and JIA, and were analyzed in 14 patients with JIA during before and after treatment. RESULTS: Plasma levels of DKK-1 were significantly higher in the patients with JIA than that in HC, the elevation of DKK-1 level was positively correlated with HLA-B27 positive JIA. DKK-1 levels dropped significantly in patient with JIA after treatment (P < 0.05). There was no significant change in SOST levels among different subtypes of JIA, patients with JIA during before and after treatment, and HC. CONCLUSION: It was suggested that the DKK-1 may have a certain correlation with the pathogenesis of JIA, and DKK-1 levels are more closely related to the HLA-B27 positive-ERA. IMPACT: The abnormally elevated levels of Dickkopf-1 (DKK-1) may be involved in the pathogenesis of juvenile idiopathic arthritis (JIA). DKK-1 levels were more closely related to the HLA-B27 positive-enthesitis-related arthritis (ERA). DKK-1 is an inhibitor of Wnt signaling pathway that promotes osteoblastic new bone formation; it is very rare for pediatric patients with HLA-B27 positive-ERA to manifest typical spondylitis, while sacroiliac arthritis is relatively common, which may be related to the high levels of DKK-1, which is consistent with the early stage of ankylosing spondylitis (AS).

Autoantibody-based subgroups and longitudinal seroconversion in juvenile-onset systemic lupus erythematosus.

OBJECTIVE: To explore the clinical value of autoantibody-based subgroup framework and the trend of autoantibody fluctuation in juvenile-onset SLE (JSLE). METHODS: Eighty-seven patients with JSLE were retrospectively collected and divided into subgroups via a two-step cluster based on the status of nine autoantibodies (double-stranded-DNA (dsDNA), nucleosome, histone, ribosomal P protein, Smith (Sm), u1-ribonucleoprotein (RNP), Sjögren's syndrome antigen A (SSA)/Ro52, SSA/Ro60, Sjögren's syndrome antigen B (SSB)/La). The final model selected in this study was based on adequate goodness of fit of the Silhouette coefficient and clinical interpretability. Clinical manifestations, organ involvements and disease activity were compared among the subgroups. Fluctuation in autoantibody status was also collected and analysed. Flare-free survival rates of the patients with positive/negative seroconversion and patients without seroconversion were studied by the Kaplan-Meier method and compared using a log-rank test. RESULTS: Two clusters were identified: subgroup 1 (positive anti-Sm/RNP group) and subgroup 2 (negative anti-Sm/RNP group). There were more lupus nephritis (LN) and neuropsychiatric SLE (NPSLE) cases in subgroup 1 than in subgroup 2. Patients in subgroup 1 exhibited higher SLE Disease Activity Index scores compared with those in subgroup 2. Furthermore, anti-ribosomal P protein (61.1%), anti-nucleosome (58.3%) and anti-dsDNA (54%) were most commonly positive autoantibodies. A progressive decrease in the frequency of patients with positive results was demonstrated during the follow-up years. The decrease was notable for anti-dsDNA, anti-nucleosome and anti-ribosomal P protein (remaining 27.27%, 38.89% and 45.00% positive in the fifth year, respectively). While for those negative at baseline diagnosis, the decrease in the frequency of negative results was progressive but modest. Kaplan-Meier curve showed that the flare-free survival of patients with positive seroconversion was significantly lower than those without seroconversion and those with negative seroconversion (p<0.001). CONCLUSIONS: In children with SLE, subgroups based on autoantibody profile can be applied to differentiate phenotypes and disease activity. Two important organ involvements, LN and NPSLE, are more common in patients with positive anti-Sm/RNP autoantibodies. Positive seroconversion may provide a valuable perspective for assessing flare, and it is worthwhile to retest the array of autoantibodies during follow-up.

Kikuchi-Fujimoto disease as the initial manifestation of systemic lupus erythematosus complicated with macrophage activation syndrome: two case reports and a review of literature.

BACKGROUND: Kikuchi-Fujimoto disease (KFD) is a self-limiting and benign disease characterized by cervical lymphadenopathy and fever. Although KFD should be made differentially diagnosed from infectious, autoimmune, and malignant diseases, it sometimes occurs in patients with systemic lupus erythematosus (SLE) and can be complicated with macrophage activation syndrome (MAS). However, it is rare that KFD is the initial manifestation of SLE and to be complicated with MAS. CASE PRESENTATION: A 9.6-year-old girl presented with high-grade fever, double-side cervical lymphadenopathy with mild pain of one week, leukopenia, alopecia, and rash on the cheek. During hospitalization, laboratory investigations showed positive antinuclear antibody (ANA), low complement 3 (C3), and low complement 4 (C4). Imaging investigations showed pleural and pericardial effusion. A 10.3-year-old girl presented with intermittent high-grade fever, double-sided cervical lymphadenopathy with obvious pain of 1-month duration, and discoid lesion on the cheek. During hospitalization, laboratory investigations showed positive ANA, leukopenia, thrombocytopenia, anemia with positive Coombs' test, low C3, and positive Smith antibodies. Both cases were diagnosed with KFD using lymph node biopsy, simultaneously fulfilling the diagnostic criteria of SLE. Subsequently, the two girls became complicated with MAS, followed by interstitial lung disease and neuropsychiatric lupus, respectively. Both patients benefited from high-dose methylprednisolone pulse therapy combined with intravenous cyclophosphamide. CONCLUSIONS: More attention should be paid to differential diagnosis, especially SLE, in children diagnosed with KFD. In addition, children with SLE who presented with KFD as the initial manifestation seem to have a higher risk of developing MAS and experiencing organ involvement.

Clinical and laboratory features of childhood-onset primary Sjögren's syndrome: A retrospective study from China.

Introduction: The initial presentations of childhood-onset primary Sjögren's syndrome (C-pSS) vary, making diagnosis challenging. We aimed to improve the diagnosis and evaluation of C-pSS by summarizing its clinical and laboratory features. Methods: A total of 49 patients with C-pSS between July 2015 and August 2022 in the Department of Rheumatology and Immunology of Shanghai Children's Medical Centre were enrolled in this study. Their clinical manifestations and laboratory examinations of these patients were compared based on the presence or absence of thrombocytopenia and parotitis and whether the immunological markers, including anti-nuclear antibodies (ANA), rheumatoid factor (RF), anti-Ro52/SSA antibodies (anti-SSA/Ro52), anti-Ro60/SSA antibodies (anti-SSA/Ro60), and anti-Ro/SSB antibodies (anti-SSB), were positive. Results: The mean age at C-pSS diagnosis was 10.34 ± 3.45 years, and the ratio of boys to girls was 1:6. In the thrombocytopenia group, parotitis (P = 0.044), organ involvement except for hematology (P = 0.002), positive anti-SSB (P = 0.004), and positive RF (P = 0.001) were less frequently observed. Complement C4 (P = 0.038) and white blood cells (P = 0.002) levels decreased and increased significantly, respectively. Anti-SSB (P = 0.010) and RF (P = 0.004) positivity were independent potential protective factors against thrombocytopenia in patients with C-pSS. In the parotitis group, higher ANA titers (P = 0.027), higher focus scores on labial gland biopsy (P = 0.024), and positive RF (P = 0.001), anti-SSA/Ro60 (P = 0.003), and anti-SSB (P = 0.001) were observed more frequently. Furthermore, positive anti-SSB (P = 0.012) and positive RF (P = 0.028) were independent risk factors for parotitis in patients with C-pSS. The hemoglobin level was significantly lower in patients with positive anti-SSA/Ro52 and positive anti-SSA/Ro60 results (P = 0.022 and P = 0.029, respectively), while immunoglobulin G level was significantly higher in patients in the same group (P = 0.048 and P = 0.007, respectively). Conclusions: Positive anti-SSB and positive RF values may be independent potential protective factors of thrombocytopenia in patients with C-pSS. In contrast, positive anti-SSB and positive RF were independent risk factors of parotitis in patients with C-pSS. More studies are needed to reveal the diagnostic role and pathogenic mechanism of immunological markers in C-pSS.

Diagnosis of Double-chambered Left Ventricle of Superior-inferior Type by Echocardiography: A Retrospective Study of 9 Subjects across Two Heart Centers.

BACKGROUND: Double-chambered left ventricle (DCLV) is extremely rare. Challenges remain in accurate diagnosis of DCLV by echocardiography, because it is easily confused with left ventricular diverticulum, left ventricular aneurysm, ventricular septal defect, etc. Herein, we reviewed echocardiographic characteristics of DCLV and evaluated the accuracy of echocardiographic diagnosis. METHODS: Clinical and echocardiographical databases of two heart centers were reviewed. Nine children with DCLV of superior-inferior arrangement were studied retrospectively. RESULTS: Normal elliptical geometry of LV cavity is preserved in DCLV. Fibromuscluar bundles separate LV into the main chamber and the accessory chamber. The associated malformations included ventricular septal defects, mitral regurgitation, mitral valve stenosis, pulmonary stenosis, and left ventricular noncompaction in our study. Eight of nine subjects with DCLV of superior-inferior arrangement were diagnosed correctly by initial echocardiographic examination, and one case was mistaken as left ventricular diverticulum. CONCLUSIONS: Double-chambered left ventricle could be diagnosed and followed up by echocardiography. The morphological classification is a simplified way to improve diagnostic accuracy.

Assessment of right ventricular systolic function in children with repaired tetralogy of Fallot by multiple-view from single acoustic window with speckle tracking echocardiography.

BACKGROUND: Challenges remain in quantitative evaluation of right ventricular (RV) function by echocardiography. Multiple-view assessment is believed to provide a more comprehensive quantification of RV function than conventional single-view analysis. Peak systolic longitudinal RV strain (RVLS) measured by speckle tracking echocardiography (STE) has clinical and prognostic value. No study has investigated RV systolic function in the repaired tetralogy of Fallot (rTOF) using a standardized four-view iRotate model from one apical view. Herein, we examined the feasibility and accuracy of the four-view analysis from apical window in quantitation of RVLS among children with rTOF. METHODS: Thirty-seven children with rTOF and 37 age- and gender-matched controls were prospectively enrolled. Tricuspid annular plane systolic excursion (TAPSE) and tricuspid annular peak systolic velocity (TDI-S' ) and fractional area change(FAC) were obtained. RVLS of four free-walls were analyzed by dedicated RV speckle tracking software. Echocardiographic parameters were compared with the right ventricular ejection fraction (RVEF) measured by the cardiac magnetic resonance (CMR) in children with rTOF. RESULTS: Multi-view RVLS analysis from apical window was feasible in 35 children with rTOF and all the controls. Compared with age- and gender-matched controls, RVLS of the anterior, lateral, inferior-a, and inferior-b walls were significantly reduced in children with rTOF (P < 0.001). RVLS of the anterior, lateral, inferior-a, and inferior-b walls correlated well with CMR-RVEF in children with rTOF (r = -0.667, -0.743, -0.808, -0.695, P < 0.001). CONCLUSIONS: Multi-view analysis of RVLS from apical window can be applied to evaluate the RV function in children with rTOF. RVLS of the inferior wall-a in the aortic view is a novel and accurate indicator of RV function because of its good reproducibility and strong correlation with CMR-RVEF.

Velocity vector imaging for the assessment of segmental ventricular function in children with a single right ventricle after cavopulmonary anastomosis.

OBJECTIVE: Ventricular function assessment is very important for the treatment and prognostic classification of children with a single right ventricle (SRV) after cavopulmonary anastomosis (CPA). However, unusual ventricular shapes can result in inaccurate measurements. The aim of this study was to evaluate velocity vector imaging (VVI) for assessing segmental ventricular function in children with SRV after CPA. METHODS: Twenty-one children with SRV after CPA and 21 age- and sex-matched children with normal biventricular anatomy and function were included. The longitudinal velocity, displacement, strain and strain rate were measured in the two groups in six segments by VVI. The velocity, displacement, strain and strain rate of the SRVs were compared with max(dp/dt) measured during simultaneous cardiac catheterization in the SRV subjects. RESULTS: The control group consisted of 13 males and 8 females (69% males) with a mean age of 6.7 ± 3.5 years and mean weight of 20.5 ± 6.5 kg, and the study group consisted of 13 males and 8 females with a mean age 6.7 ± 3.7 years and mean weight of 20.6 ± 6.8 kg. Age, weight and sex distribution were similar between the groups (all, p > .05). Strain and strain rate values in all six segments were significantly lower in the study group than in the control group (all, p < .05). The max(dp/dt) of the SRV was 522.84 ± 158.32 mmHg/s, and the strain rate of the basal segment at the rudimentary chamber correlated best with max(dp/dt) (r = 0.74, p < .01). CONCLUSIONS: Segmental ventricular dysfunction was present in children with SRV after CPA, and it could be assessed using VVI.