Torticollis as a Sole Presentation of Spondyloarthritis in a 4-Year-Old Child.

Spondyloarthritis presents in various and occasionally unusual ways that imitates other diseases. Without forthcoming risk factors, such atypical presentation may elude diagnosis for months. The case presented here of a child, aged 4 years, who is negative for human leukocyte antigen B27 (HLA-B27) and with no family history of HLA-B27 related disease, who developed torticollis with neck pain and lymphadenopathy, highlights the necessity of continually evaluating a diagnosis, especially when treatment fails to produce expected results. Painful torticollis in a child with adenopathy often is infectious in nature or potentially due to Griesel syndrome when persistent. Chronic arthritis of the cervical spine may enter the differential diagnosis when torticollis is persistent, and early recognition and aggressive treatment is necessary to prevent permanent functional impairment.

Performance and psychometric properties of lupus impact tracker in assessing patient-reported outcomes in pediatric lupus: Report from a pilot study.

OBJECTIVE: To evaluate the reliability, validity, feasibility and psychometric performance of the Lupus Impact Tracker (LIT) as a patient reported outcome (PRO) measure tool in pediatric systemic lupus erythematosus (pSLE). METHODS: This is a prospective, observational, pilot study where patients aged between 12 and 25 years, fulfilling the 1997 ACR classification criteria for SLE, were enrolled. Over 3 consecutive, routine, clinical visits, the patients completed the LIT alongside the Patient-Reported Outcomes Measurement Information System-Short Forms (PROMIS-SFs), Childhood Health Assessment Questionnaire (CHAQ). Rheumatologists completed the Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI-2K) and the Systemic Lupus International Collaborating Clinics/American College of Rheumatology (SLICC-ACR) Damage Index. Demographic, clinical and laboratory data were also collected. RESULTS: Of 46 patients enrolled, 38 patients completed 2 visits and 31 completed all 3 visits. Seventy-eight percent were female, 33% African American, 28% Asian, 15% Caucasian and 17% Hispanic. The mean (SD) age was 17.2 (2.7) years, with a mean (SD) disease duration of 4.6 (3.1) years. The mean (SD) SLEDAI-2K at enrollment was 3.54 (2.96). In the 38 patients who completed two or more visits, intra-class correlation coefficient and Cronbach alpha were calculated to be 0.70 and 0.91 respectively, signifying good reliability of LIT. The LIT showed positive correlation with CHAQ-Disability Index and majority of the PROMIS-SFs parameters. Construct validity was established against clinical disease activity (SLEDAI-2K). CONCLUSION: The preliminary results indicate that the LIT is a reliable and valid instrument to capture PRO in p-SLE. Prospective validation with a larger, multicenter cohort is the next step.

Using a collaborative learning health system approach to improve disease activity outcomes in children with juvenile idiopathic arthritis in the Pediatric Rheumatology Care and Outcomes Improvement Network.

Introduction: The Pediatric Rheumatology Care and Outcomes Improvement Network (PR-COIN) is a North American learning health network focused on improving outcomes of children with juvenile idiopathic arthritis (JIA). JIA is a chronic autoimmune disease that can lead to morbidity related to persistent joint and ocular inflammation. PR-COIN has a shared patient registry that tracks twenty quality measures including ten outcome measures of which six are related to disease activity. The network's global aim, set in 2021, was to increase the percent of patients with oligoarticular or polyarticular JIA that had an inactive or low disease activity state from 76% to 80% by the end of 2023. Methods: Twenty-three hospitals participate in PR-COIN, with over 7,200 active patients with JIA. The disease activity outcome measures include active joint count, physician global assessment of disease activity, and measures related to validated composite disease activity scoring systems including inactive or low disease activity by the 10-joint clinical Juvenile Arthritis Disease Activity Score (cJADAS10), inactive or low disease activity by cJADAS10 at 6 months post-diagnosis, mean cJADAS10 score, and the American College of Rheumatology (ACR) provisional criteria for clinical inactive disease. Data is collated to measure network performance, which is displayed on run and control charts. Network-wide interventions have included pre-visit planning, shared decision making, self-management support, population health management, and utilizing a Treat to Target approach to care. Results: Five outcome measures related to disease activity have demonstrated significant improvement over time. The percent of patients with inactive or low disease activity by cJADAS10 surpassed our goal with current network performance at 81%. Clinical inactive disease by ACR provisional criteria improved from 46% to 60%. The mean cJADAS10 score decreased from 4.3 to 2.6, and the mean active joint count declined from 1.5 to 0.7. Mean physician global assessment of disease activity significantly improved from 1 to 0.6. Conclusions: PR-COIN has shown significant improvement in disease activity metrics for patients with JIA. The network will continue to work on both site-specific and collaborative efforts to improve outcomes for children with JIA with attention to health equity, severity adjustment, and data quality.

Granulomatous mastitis, erythema nodosum, and polyarthritis: a case report.

BACKGROUND: Granulomatous mastitis is a rare inflammatory disease of the breast, typically seen in woman of child-bearing age. No definitive etiology has been described. In rare instances, this condition has been reported to be associated with extramammary manifestations such as erythema nodosum and arthritis. We describe this rare condition in an adolescent female. CASE PRESENTATION: A 16-year-old, Hispanic female presented with right-sided painful breast swelling, polyarthritis, and erythema nodosum on bilateral shins and lower thighs. Physical examination was negative for lymphadenopathy and pulmonary, gastrointestinal, and cardiovascular findings. Ophthalmologic examination for uveitis and serologic tests for autoimmune diseases were negative. Diagnosis of idiopathic granulomatous mastitis was made by exclusion of other etiologies and conditions. Confirmation was made by histopathologic examination demonstrating noncaseating granuloma within breast lobules with neutrophils and microabscess formation. After wide local excision and a short course of trimethoprim-sulfamethoxazole, our patient was placed on naproxen and prednisone, the latter being tapered off over 3 months, with steady and complete resolution of all symptoms. CONCLUSION: This is the first reported case of idiopathic granulomatous mastitis in a pediatric patient who also had extramammary manifestations, including erythema nodosum and polyarthritis. In this case-based review, we summarize the phenotype, risk factors, prognosis, and treatment options of this rare condition, chiefly to make the readers cognizant of such a diagnostic possibility in similar clinical presentation in the future.

Vaginal Discharge in a Pre-pubertal Girl Posing a Diagnostic Challenge.

Vaginal discharge in prepubescent girls is not an uncommon problem in pediatric outpatient practice. Among its various etiologies, foreign body lodgement is quite frequent in this age group. Diagnosis is sometimes forthcoming after history and physical exam, and the removal of the foreign object is followed by a prompt resolution of symptoms. However, in rare circumstances, an intravaginal foreign body may mimic other pathologies, including infections and neoplasms, as well as raising suspicion for child abuse. In such cases, diagnosis may remain unclear even after laboratory tests and imaging studies. We describe a seven-year-old girl with vaginal discharge, who needed inpatient admission, multiple imaging studies and, finally, exploration under anesthesia to confirm the diagnosis of foreign body (fecal mass) lodgement and its removal. This is a very rare case where the lodgement of an intravaginal fecal mass in a child led to such protracted symptoms requiring extensive diagnostic and therapeutic maneuvers, in the absence of any structural abnormality of the urogenital tract.

Childhood lupus: experience from Eastern India.

OBJECTIVE: To delineate the clinical behavior of SLE in children from Eastern India and to the differences in disease pattern. METHODS: In the present study, all 44 patients of pediatric SLE who were diagnosed over a period of 5 years in our pediatric rheumatology clinic were followed prospectively. The resultant database was analyzed using standard statistical methods. RESULTS: about 3.9% of all rheumatology cases dealt with in the clinic in the last five yrs (n=1063) were sle. the number of children in 5-8 yrs and 8-12 yrs age groups were 13 and 27, respectively. the overall female (n=35) to male (n=9) ratio in this study was 3.8:1. renal, hematological and neuropsychiatric features were most common major organ manifestations(54%,54% and 25% respectively). joints and skin were the most common minor organs involved. two case were ana negative sle. among the typical features of ana negative disease, only nephritis was found in these patients. anti dsdna was positive in 50 % cases (n=21). c3 levels were studied in all cases with nephritis (n=22) and 68 % (n=15) had hypocomplementemia. anti ro and anti la antibodies were positive in two cases of neonatal lupus. APLA, ANTI SM antibody AND ANTI U1RNP were negative in the cases where testing was done: CONCLUSIONS: This study has tried to delineate the disease trends of childhood lupus from Eastern India. Certain important trends have emerged which are different from other contemporary Indian and International observations.

Clinico-serological profile of juvenile idiopathic arthritis.

We report clinico-serological profile of 210 children with Juvenile idiopathic arthritis (JIA), diagnosed as per ILAR classification criteria. Polyarticular, oligoarticular, and systemic onset disease was observed in 72, 69, and 40 children, respectively. The knee joint was the most frequently involved joint. Antinuclear factor and Rheumatoid factor were positive in 10 and 8, 6 and 20, and 7 and 7 percent children with polyarticular, oligoarticular, and systemic disease, respectively.