Pediatric Rheumatology - Latest Articles

Presentation of hemophagocytic lymphohistiocytosis due to a novel MUNC 13-4 mutation masked by partial therapeutic immunosuppression.

Jackie Garrett — 2012-05-03T00:00:00Z

Hemophagocytic lymphohistiocytosis is a potentially fatal disease characterized by excessive macrophage and lymphocyte activity. Patients can be affected following immune activation after an oncologic, autoimmune or infectious trigger. An associated gene mutation may be found which impairs cytolytic lymphocyte function. We describe a pediatric case of hemophagocytic lymphohistiocytosis with a novel mutation of MUNC 13-4 whose diagnosis was confounded by concurrent immunosuppression. Clinical reassessment for hemophagocytic lymphohistiocytosis is necessary in persistently febrile patients with laboratory derangements in the setting of immunosuppressive agent exposure.

Differential manifestations of prepubescent, pubescent and postpubescent pediatric patients with systemic lupus erythematosus: A retrospective study of 96 Chinese children and adolescents

Li-Lan Chiang — 2012-05-02T00:00:00Z

Background: Children represent 10-20% of all systemic lupus erythematosus (SLE) patients. Their clinical manifestations and outcomes vary with age. We aim to clarify the relationship between pubescent status and the clinical manifestations of pediatric SLE. Methods: In this study, pediatric SLE patients were divided into three groups, based on age at disease onset (8, 8-13 & 13-18 years), defined as prepubescent, pubescent and postpubescent, respectively. Initial clinical manifestations and laboratory characteristics at diagnosis were analyzed. Results: Ninety-six patients were entered into the study: 8 had disease onset before age 8, while 49 were between 8-13 and 39 of them were 13-18. Female predominance was noted in all three groups (2.5-7.0:1). Postpubescents showed significantly more renal involvement and lymphopenia, along with lower levels of C3 and C4, when compared with prepubescents. They also showed significantly more lymphopenia when compared with pubescents. Pubescents showed significantly more renal involvement, leukopenia and lupus anticoagulant (LAC) positivity, along with lower C3 and C4 levels, when compared with prepubescents. Pubescents also showed significantly higher anti-Sm antibody positivity when compared with postpubescents. Prepubescents showed significantly more splenomegaly and anti-Jo-1 antibody positivity when compared with those of pubescents. The results showed that the disease activity (SLEDAI-2 K score) correlated positively with age at disease onset and negatively with disease duration before diagnosis (p = 0.011). Conclusions: Age at disease onset is related to initial manifestations in pediatric SLE patients at our center. Certain parameters such as renal involvement, splenomegaly, low C3 level, low C4 level, lymphopenia, leukopenia, and anti-Sm & anti-Jo-1 antibody were found to be significantly different among the age groups. Renal involvement might be the key symptom that varies with age.

Ultrasonography and color Doppler in juvenile idiopathic arthritis: diagnosis and follow-up of ultrasound-guided steroid injection in the wrist region. A descriptive interventional studyy

Louise Laurell — 2012-04-21T00:00:00Z

Background: The wrist region is one of the most complex joints of the human body. It is prone to deformity and functional impairment in juvenile idiopathic arthritis (JIA), and is difficult to examine clinically. The aim of this study was to evaluate the role of ultrasonography (US) with Doppler in diagnosis of synovitis, guidance of steroid injections, and follow-up examinations of the wrist in JIA. Methods: In 11 patients (median age 12.5 years, range 2-16), 15 wrists with clinically active arthritis were assessed clinically by US and color Doppler (Logiq 9, GE, 16-4 MHz linear transducer) prior to and 1 and 4 weeks after US-guided steroid injection. Results: US detected synovitis in the radio-carpal joints, the midcarpal joints, and the tendon sheaths in 87%, 53% and 33% of the wrists, respectively. Multiple compartments were involved in 67%. US-guidance allowed accurate placement of steroid in all 21 injected compartments, with a low rate of subcutaneous atrophy. Synovial hypertrophy was normalized in 86% of the wrists, hyperemia in 91%, and clinically active arthritis in 80%. Conclusions: US enabled detection of synovial inflammation in compartments that are difficult to evaluate clinically and exact guidance of injections, and it was valuable for follow-up examinations. Normalization of synovitis was achieved in most cases, which supports the notion that US is an important tool in management of wrist involvement in JIA.

Hemolytic anemia following intravenous immunoglobulin therapy in patients treated for Kawasaki disease: a report of 4 cases

Roberta Berard — 2012-04-16T00:00:00Z

Background: Hemolytic anemia is a rare but reported side effect of intravenous immunoglobulin (IVIG) therapy. The risk of significant hemolysis appears greater in those patients who receive high dose IVIG. The etiology is multifactorial but may relate to the quantity of blood group antibodies administered via the IVIG product.FindingsWe describe 4 patients with significant hemolytic anemia following treatment with IVIG for Kawasaki disease (KD). Direct antibody mediated attack as one of the mechanisms for hemolysis, in this population, is supported by the demonstration of specific blood group antibodies in addition to a positive direct antiglobulin test in our patients. Conclusions: Clinicians should be aware of this complication and hemoglobin should be closely monitored following high dose IVIG therapy.

Asymptomatic intracardiac mass in a 14-year-old girl with granulomatosis with polyangiitis: Case report

Julia Harris — 2012-04-13T00:00:00Z

Granulomatosis with polyangiitis (GPA; Wegener's granulomatosis) is a systemic necrotizing vasculitis of unknown etiology that commonly involves the upper airways, lungs, and kidneys. Cardiac involvement with an intracardiac mass is an exceedingly rare manifestation of this disease, especially in the pediatric population where, to our knowledge, only one article exists to date that has described such a finding. In this report, we present the case of an adolescent female who initially presented with renal failure and an intracardiac mass. Subsequent work-up led to a diagnosis of granulomatosis with polyangiitis (GPA). Cardiac manifestations in pediatric GPA are not common; however, they may be more prevalent than reported given recent adult literature and concern for clinically silent abnormalities.

Fatal myocarditis in a child with systemic onset juvenile idiopathic arthritis during treatment with an interleukin 1 receptor antagonist

Andrew Zeft — 2012-04-10T00:00:00Z

Background: The pathologic diagnosis of isolated myocarditis without pericardial involvement is uncommonly encountered in systemic onset Juvenile Idiopathic Arthritis (soJIA).CaseAn eleven year-old boy with soJIA died suddenly while being treated with the interleukin 1 (IL-1) receptor inhibitor, anakinra. His autopsy revealed an enlarged heart and microscopic findings were consistent with myocarditis, but not pericarditis. Viral PCR testing performed on his myocardial tissue was negative. Conclusion: This case illustrates myocarditis as a fatal complication of soJIA, potentially enabled by anakinra.

Developing a standardized approach to the assessment of pain in children and youth presenting to pediatric rheumatology providers: a Delphi survey and consensus conference process followed by feasibility testing

Jennifer Stinson — 2012-04-10T00:00:00Z

Background: Pain in children with rheumatic conditions such as arthritis is common. However, there is currently no standardized method for the assessment of this pain in children presenting to pediatric rheumatologists. A more consistent and comprehensive approach is needed to effectively assess, treat and monitor pain outcomes in the pediatric rheumatology population. The objectives of this study were to: (a) develop consensus regarding a standardized pain assessment tool for use in pediatric rheumatology practice and (b) test the feasibility of three mediums (paper, laptop, and handheld-based applications) for administration. Methods: In Phase 1, a 2-stage Delphi technique (pediatric rheumatologists and allied professionals) and consensus meeting (pediatric pain and rheumatology experts) were used to develop the self- and proxy-report pain measures. In Phase 2, 24 children aged 4-7 years (and their parents), and 77 youth, aged 8-18 years, with pain, were recruited during routine rheumatology clinic appointments and completed the pain measure using each medium (order randomly assigned). The participant's rheumatologist received a summary report prior to clinical assessment. Satisfaction surveys were completed by all participants. Descriptive statistics were used to describe the participant characteristics using means and standard deviations (for continuous variables) and frequencies and proportions (for categorical variables) Results: Completing the measure using the handheld device took significantly longer for youth (M = 5.90 minutes) and parents (M = 7.00 minutes) compared to paper (M = 3.08 and 2.28 minutes respectively p = 0.001) and computer (M = 3.40 and 4.00 minutes respectively; p < 0.001). There was no difference in the number of missed responses between mediums for children or parents. For youth, the number of missed responses varied across mediums (p = 0.047) with the greatest number of missed responses occurring with the handheld device. Most children preferred the computer (65 %, p = 0.008) and youth reported no preference between mediums (p = 0.307). Most physicians (60 %) would recommend the computer summary over the paper questionnaire to a colleague. Conclusions: It is clinically feasible to implement a newly developed consensus-driven pain measure in pediatric rheumatology clinics using electronic or paper administration. Computer-based administration was most efficient for most users, but the medium employed in practice may depend on child age and economic and administrative factors.

MR enterography to evaluate for sub-clinical intestinal inflammation in children with spondyloarthritis

Matthew Stoll — 2012-02-08T00:00:00Z

Background: Magnetic resonance enterography (MRE) is an established tool to evaluate for changes associated with inflammatory bowel disease (IBD), but has not been studied in sub-clinical IBD. We sought to evaluate the use of MRE in children with spondyloarthritis (SpA), who are at risk of having sub-clinical gut inflammation. Methods: Children with juvenile idiopathic arthritis (JIA) with evidence of intestinal inflammation as evidence by an abnormal fecal calprotectin assay were offered MRE of their intestines. Flavored sports drink containing polyethylene glycol 3350 was used as oral contrast. Glucagon was used to arrest peristalsis. Patients were imaged in the prone position on a 1.5 T scanner. Heavily T2-weighted fat-suppressed coronal and axial images using breath-hold technique were obtained, followed by post-gadolinium fat-suppressed T1-weighted gradient echo images. Results: We recruited five children with juvenile idiopathic arthritis (JIA); four had SpA, and one had poly-articular JIA. All five had evidence of intestinal inflammation based upon a positive fecal calprotectin assay and successfully completed the MRE. Three of the studies showed findings suggestive of IBD, including thickening and contrast uptake at the terminal ileum (TI) in one child, contrast uptake of the distal ileum in another, and prominent vasa recta and mesenteric lymph nodes in the third. The child with evidence of inflammatory changes at the TI underwent colonoscopy, which revealed inflammatory bowel disease limited to the TI. Conclusions: MRE can be used to evaluate for subclinical IBD in children with JIA. This protocol was safe and well-tolerated, and identified mild changes in three of the subjects.

Editorial: Policy Challenges for the Pediatric Rheumatology Workforce

Carol Lindsley — 2012-02-02T00:00:00Z

Dr. Henrickson presents a thoughtful three part analysis of current challenges to pediatric rheumatologists regarding barriers to access to care for children with rheumatic disease and to achieving optimal clinical outcomes. 1-3 He then presents some possible solutions. He has initiated an important conversation that has the potential to impact the future of our discipline.

Comparative effectiveness of videotape and handout mode of instructions for teaching exercises: skill retention in normal children

Garima Gupta — 2012-01-30T00:00:00Z

Background: Teaching of motor skills is fundamental to physical therapy practice. In order to optimize the benefits of these teaching and training efforts, various forms of patient education material are developed and handed out to patients. One very important fact has been overlooked. While comparative effectiveness of various modes of instruction has been studied in adults, attention has not been paid to the fact that learning capabilities of children are different from that of adults. The intent of the present study is to compare the effectiveness of video and handout mode of instructions specifically on children. Methods: A total of 115 normal elementary-age children aged 10 to 12 years of age were studied. The children were randomized into two groups: A) the video group, and B) the handout group. The video group viewed the video for physical therapy exercises while the handout group was provided with paper handouts especially designed according to the readability of their age group. Results: Statistical analysis using the student's't' test showed that subjects of both the video and handout groups exhibited equal overall performance accuracy. There was no significant difference between the groups both in acquisition and retention accuracy tests. Conclusion: The findings of the present study suggest that if the readability and instructional principles applicable to different target age groups are strictly adhered to, then both video as well as handout modes of instructions result in similar feedback and memory recall in ten to twelve year-old children. Principles of readability related to the patient age are of utmost importance when designing the patient education material. These findings suggest that the less expensive handouts can be an effective instructional aid for teaching exercises to children with various neuromuscular, rheumatic, and orthopedics conditions and the most costly videotape techniques are not necessarily better.