Proceedings of the 24th Paediatric Rheumatology European Society Congress: Part three

Correspondence: Antoni Fellas

Introduction: Foot and ankle pathologies are common in juvenile idiopathic arthritis (JIA) and can cause physical disability and reduce quality of life (1). Early detection and evidence-based treatment of these symptomatic pathologies are an important first step in preventing ongoing pain and long-term disabilities in children with JIA.

Objectives: To search the literature and provide an update on the types of foot and ankle pathologies reported in children with JIA.

Methods: MEDLINE (Ovid) was searched for relevant papers published in English with preference given to papers published in the last 10 years, and older highly regarded cited papers.

Results: Foot and ankle pathologies are highly prevalent in JIA (1–3). Foot and ankle pathologies in JIA include joint disease, tenosynovitis, muscle atrophy, enthesitis, digital deformities and biomechanical abnormalities (1–9). One study surveying foot problems found that in a cohort of 30 children with JIA, 63% reported some level of foot-related impairment and 60% with foot-related participation restriction (1). This review outlines and describes each of these foot and ankle pathologies.

Joint disease – Joint disease in JIA may include joint swelling, tenderness, pain, warmth and stiffness (4). These symptoms typically occur as a result of synovitis (4) and may be involved in 35-58% of cases (2, 3, 5, 10).

Tenosynovitis – inflammation of the tendon sheath in JIA commonly affects the tibialis posterior and peroneal tendons (5).

Muscle atrophy – Plantar-flexor muscle atrophy may be observed in children with JIA. This may be more noticeable when there is active joint disease in the ankle (6, 7). A reduction of plantar-flexion strength at the ankle may have implications in the propulsive phase of the gait, by delaying heel lift and increasing plantar pressures on the rear and midfoot.

Enthesitis – Inflammation at the site of insertion of a tendon or ligament to the bone is common at the Achilles tendon and the medial tubercle of the calcaneus. These are typically seen in male patients with the enthesitis-related subtype of JIA (4). One recent study with 26 JIA participants (average age of 11.6 years) reported a prevalence of 45% for the Achilles tendon and 20% for the plantar fascia (8). The mean recorded pain on a 100 mm visual analogue scale was 48 mm (8). Quality of life was not measured in this study; however, this level of pain may reduce physical and social well-being.

Digital deformities – Inflammation in the forefoot may lead to digital deformities such as clawed toes in children and adolescents with JIA. One study reported a prevalence of 17% in 144 participants (average age = 10.6) with JIA and hallux abducto valgus (2). Children with polyarticular subtype of JIA and those with a longer duration of disease were more likely to have hallux abducto valgus (2).

Biomechanical abnormalities – Biomechanical abnormalities of the foot and ankle are associated with prolonged synovitis (3). Synovitis can disrupt normal articulation of the rear and midfoot joints, and can contribute to an excessively pronated foot and abnormal plantar pressures (9). One study found that the prevalence of excessively pronated rear and midfoot joints in 144 JIA participants, was 73% and 72% respectively (2).

Conclusion: A range of foot and ankle pathologies are highly prevalent in JIA and contribute to physical morbidity. Allied health professionals may be involved as part of the paediatric rheumatology multidisciplinary team to assist in the early detection and management of these lower limb pathologies. Further research is required to attain accurate prevalence rates and the long-term implications that these foot and ankle conditions may have on a child or adolescent with JIA.

References

1. Hendry G, Gardner-Medwin J, Watt GF, Woodburn J. A survey of foot problems in juvenile idiopathic arthritis. Musculoskelet. 2008;6(4):221–32.

2. Spraul G, Koenning G. A descriptive study of foot problems in children with juvenile rheumatoid arthritis (JRA). Arthritis Care Res. 1994;7(3):144–50.

3. Ferrari J. A review of the foot deformities seen in juvenile chronic arthritis. The Foot. 1998;8(4):193–6.

4. Ravelli A, Martini A. Juvenile idiopathic arthritis. The Lancet. 2007;369(9563):767–78.

5. Javadi S, Kan JH, Orth RC, DeGuzman M. Wrist and ankle MRI of patients with juvenile idiopathic arthritis: identification of unsuspected multicompartmental tenosynovitis and arthritis. AJR Am J Roentgenol. 2014;202(2):413–7.

6. Saarinen J, Lehtonen K, Malkia E, Lahdenne P. Lower extremity isometric strength in children with juvenile idiopathic arthritis. Clin Exp Rheumatol. 2008;26(5):947–53.

7. Brostrom E, Nordlund MM, Cresswell AG. Plantar- and dorsiflexor strength in prepubertal girls with juvenile idiopathic arthritis. Arch Phys Med Rehabil. 2004;85(8):1224–30.

8. Jousse‐Joulin S, Breton S, Cangemi C, Fenoll B, Bressolette L, De Parscau L, et al. Ultrasonography for detecting enthesitis in juvenile idiopathic arthritis. Arthritis Care Res. 2011;63(6):849–55.

9. Haber L, Womack E, Zimmerman C, Hughes J. Clinical manifestations and treatment of the pediatric rheumatoid patient. Clinics in podiatric medicine and surgery. 2010;27(2):219–33.

10. Hemke R, Nusman CM, van der Heijde DM, Doria AS, Kuijpers TW, Maas M, et al. Frequency of joint involvement in juvenile idiopathic arthritis during a 5-year follow-up of newly diagnosed patients: implications for MR imaging as outcome measure. Rheumatol Int. 2015;35(2):351–7.

Disclosure of Interest

None Declared

Correspondence: Anthi Kelempisioti

Introduction: Regulatory T cells (Treg) are essential regulators of self-tolerance and are crucial for maintaining immune homeostasis. FOXP3 transcription factor is considered as a specific marker and the main regulator for the differentiation and function of Treg cells. Juvenile Idiopathic Arthritis (JIA) is the most common rheumatic disease of childhood, and characterization of the specific subsets of Treg is essential to unravel their role in the pathogenesis of juvenile idiopathic arthritis (JIA).

Objectives: CD4⁺CD25⁺FOXP3⁺ Treg cells, are some of the key players in immunoregulation. This study was undertaken to investigate the phenotype of CD4+ T cells in PBMCs from JIA patients in two stages of clinical analyses, pre and post treatment and compare them to a matched set of healthy controls.

Methods: The phenotypes of T cells of PBMCs from JIA patients and matched controls were determined by flow cytometry. Treg suppression capacity was analyzed with a CFSE‐based T cell suppression assay. Statistical analyses within and between the groups was performed using SPSS.

Results: Treg number was quantified by analyzing CD4⁺CD25⁺FOXP3⁺ cells from peripheral blood samples. The proportion and suppression capacity of regulatory T cells were different between the cases and controls (pre-treatment cases vs controls P = 0,006, post-treatment cases vs controls P = 0.001). With just one third of the data analyzed there were slight quantitative differences in regulatory T cells between the case and control groups but were not statistically significant.

Conclusion: Results shown here are not conclusive since this is an ongoing study.

Disclosure of Interest

None Declared

Correspondence: Mohammed A. Mozaffar

Introduction: Traditionally, management of Juvenile Idiopathic Arthritis (JIA) involves use of non-steroidal anti-inflammatory drugs (NSAIDS) or disease-modifying anti-rheumatic drugs (DMARDs), such as methotrexate (MTX) or sulfasalazine; or steroids. However, in several cases, a low therapeutic response or important side effects are encountered. This study reports our experience in using adalimumab in JIA patients by assessing the efficacy and safety of this treatment in this category of patients.

Objectives: To reports our experience in using adalimumab in JIA patients by assessing the efficacy and safety of this treatment in this category of patients.

Methods: A retrospective study was conducted among 38 patients with JIA at the Pediatric Department, King Abdulaziz Univesrity Hospital, Jeddah, Saudi Arabia, in the period January 2005 – March 2016. Patients’ records were reviewed and relevant demographic and clinical data were collected. Data were analyzed using SPSS version 21 and represented using tables.

Results: The 38 patients were distributed as 11 (28.9%) males and 27 (71.1%); mean ± SD age was 11.91 ± 4.54 (range = 3 – 19) years. Mean ± SD (range) disease duration was 3.26 ± 2.52 (0–12) years and most frequent diagnoses included polyarticular rheumatoid factor (RF) negative form 12 (31.6%), followed by systemic and oligoarticular JIA with 9 (23.7%) cases each. Before adalimumab,fever was present in 13 (34.2%) cases, followed by rash in 8 (21.0%) cases; while 21 (55.3%) were asymptomatic. Thirty-one (81.6%) were in failure of MTX, 19 (50%) of steroids, 7 (18.4%) of NSAIDS and 3 (7.9%) had had intraarticular injections. Biologically, ANA, RF and anti-CCP were positive in 22 (57.9%), 8 (21.1%) and 4 (10.5%) of the cases, respectively. Uveitis was present in 11 (28.9%) of the patients. Analysis of adalimumab efficacy showed 10 (52.6%) cases of complete remission, 9 (23.7%) of partial remission and 9 (23.7%) other where treatment was discontinued. Major adverse effects included local pain (4 [10.5%]), new onset uveitis (1 [2.6%]) andrash (1 [2.6%]), responsible of 1case of treatment discontinuation. Predictors for complete remission on adalimumab were oligoarticular form (β = 3.450, p = 0.009) and negative RF (β = 2.381, p = 0.036); while predictors for nonresponse, whether complete or partial, were polyarticular form (β = −3.784, p = 0.005) and positive anti-CCP (β = −3.178, p = 0.021).

Conclusion: Adalimumab is an efficient and relatively safe alternative in the treatment of JIA with relatively high remission rates and lower rates of adverse effects. Further multicentre experiences are warranted to prove its efficacy and safety in the Saudi patients.

Disclosure of Interest

None Declared

Correspondence: Achille Marino

Introduction: Neuromyelitis optica (NMO) is a central nervous system inflammatory disease characterized most often by optic neuritis (ON) and/or transverse myelitis (TM) along with serum immunoglobulin G antibodies that target the water channel aquaporin-4 (AQP4-IgG). The treatment of this condition is not standardized and may be challenging (1).

Objectives: To describe the first child with NMO, and also Sjogren’s Syndrome (SS), successfully treated with the IL-6 receptor humanized monoclonal antibody, tocilizumab.

Methods: Case report

Results: A 23 month old Caucasian male developed prolonged seizure in the setting of hyponatremia, resolved with hypertonic saline administration. Brain MRI revealed T2 hyperintense lesions involving the brainstem and thalamus. He was diagnosed with central pontine myelinolysis (CPM) and achieved symptomatic remission after treatment with intravenous immunoglobulin (IVIG) and intravenous methylprednisolone (IVMP). Two years later, he developed unilateral acute ON on his right eye, completely resolved following IVMP.

At 11 years, he had an episode of ON in his left eye. There was concern that his presentation could be consistent with NMO, and his serum was positive for anti-AQP4-IgG at that time. Work up revealed positive antinuclear antibody (ANA 1:160) and positive SS-A antibodies, but lip biopsy was inconclusive for SS. Once more, he was treated with IVMP, followed by oral corticosteroids.

At 14 years, the subject developed left-sided vision loss, right hemiparesis, and lethargy. He did not improve with IVMP, but did respond to subsequent PLEX. MRI demonstrated ongoing disease activity with a new large, confluent left-sided supratentorial white matter lesions and confluent T2 hyperintense lesions of the thoracic cord (T2-T5). Given the progression, he was treated with Cyclophosphamide (Cyc) and Rituximab (RTX). After 5 Cyc infusions, he was transitioned to Mycophenolate Mofetil (MMF).

Three months later, he had resolution of spinal involvement on MRI without progression of brain lesions. His MRI incidentally revealed numerous parotid cysts. Given the presence of parotid cysts, positive SSA antibodies and mild symptoms of dry mouth, a diagnosis of SS was made and hydroxychloroquine treatment was started. Over the next two years, he relapsed several times and was treated with IVMP and RTX. He later developed secondary hypogammaglobulinemia and began IVIG replacement. Despite complete CD19⁺ B lymphocyte depletion (absolute CD19⁺ ≤ 2 cells/μl), the relapses occurred with shorter inter-treatment intervals. Therefore tocilizumab was added when he was 16 years old. He was able to discontinue oral corticosteroids within 1 year. Rituximab was stopped after 4 rounds in two years. Over a follow-up period of three years, he has not experienced any relapses, despite absolute CD19+ > 100 cells/μl. He has not developed any adverse effect during ongoing treatment.

Conclusion: Blockade of IL-6 may be useful and safe to treat children NMO. RTX is used to treat NMO but it is not always effective. A recent report demonstrated that CD20⁻ plasmablasts (PB), a population not directly impacted by RTX, are increased in the peripheral blood of patients with NMO, and that IL-6 can promote PB survival and anti-AQP4 production in vitro (2). As IL-6 levels are increased in sera and cerebrospinal fluid of patients with active NMO, IL-6 has been hypothesized to be involved in the disease’s immunopathogenesis (3). This may explain why inhibition of the IL-6 pathway can be a valuable option to treat NMO. In this study we describe a pediatric patient who, despite complete depletion of CD19 + B-lymphocytes, did not maintain durable remission with RTX whereas remission on tocilizumab was maintained also after B-cell repopulation.

1. Wingerchuk DM, Banwell B, Bennett JL, et al. International consensus diagnostic criteria for neuromyelitis optica spectrum disorders. Neurology 2015;85:177–189.

2. Chihara N, Aranami T, Sato W, et al. Interleukin 6 signaling promotes anti-aquaporin 4 autoantibody production from plasmablasts in neuromyelitis optica. Proc Natl Acad Sci USA 2011;108:3701–3706.

3. Uzawa A, Mori M, Arai K, et al. Cytokine and chemokine profiles in neuromyelitis optica: significance of interleukin-6. Mult Scler 2010;16:1443–1452.

Disclosure of Interest

None Declared

Correspondence: Maria Amelia Muñoz Calonge

Introduction: Mixed connective tissue disease (MCTD) is one of the most infrequent rheumatic disorders in children and gathers clinical features of juvenile idiopathic arthritis (JIA), systemic lupus erythematosus (SLE), juvenile dermatomyositis (JDM), and cutaneous systemic scleroderma (CSS). Esophageal dysmotility and cardiopulmonary involvement may occur during the disease course, being the latter which determines morbidity and mortality.

Objectives: To describe the main characteristics of two pediatric patients diagnosed with MCTD and substantially different clinical symptoms at disease onset.

Methods: Clinical charts review

Results: Two patients were included, both girls (case 1 and case 2), whose main characteristics are described in Table 1. Age at disease onset was 9 and 10 years old respectively. Delay of diagnosis ranged between 2 and 3 years. Case 1 was initially diagnosed with positive rheumatoid factor JIA, and case 2 with SLE (being Raynaud phenomenon the main symptom). Inmunology studies were completed by anti-RNP antibodies determination, which were positive in both cases. Both patients met Kasukawa criteria for MCTD. Capillaroscopy showed EMTC pattern in case 1 and sclerodermiform pattern in case 2.

Both patients receive hydroxychloroquine and mycophenolate mofetile.

Conclusion: A wide variability exists regarding clinical onset of pediatric MCTD and delay of diagnosis is common. Further research is needed in order to validate paediatric classification/diagnostic criteria.

Disclosure of Interest

None Declared

Correspondence: Esmeralda Núñez-Cuadros

Introduction: Complex regional pain syndrome (CRPS) is a neuropathic disoder characterized by chronic pain of unknown cause that associates sensorial, autonomic and motor symptoms. It is an underdiagnosed entity that requieres a multidisciplinary approach. Currently there are no standarized treatment protocols.

Objectives: To describe clinical and epidemiological features of CRPS patients and to analize factors potentially involved in evolution and therapeutic response.

Methods: Descriptive retrospective study in CRPS patiens (diagnosed accoding to Budapest criteria) younger than 14 years monitored by a Pediatric Rheumatology Unit between January 2009 and February 2017.

Results: 15 patients were enrolled, 11 women mean age 10,82 years (±1,7 SD). Among possible triggers we found previous trauma in 12 patients (11 were inmovilized with a median duration of 20 days) and we identified unfavorable psychological factors in 7 patients. All of them showed unilateral lower limbs involvement, except for one patient with bilateral affection.

In terms of clinical symptoms, 14 presented functional impairement, 13 neuropathic pain (associated to allodynia in 10) and 5 trophic changes. None of them had hypertrichosis. The mean time of diagnosis delay was 55,1 days (±63,2 SD). Magnetic resonance was performed in 14 patients and showed pathologic findings in 9. Bone scintigraphy was performed in 12 patients, being diagnostic (hypercaption in early phase) in 8.

Before the diagnosis was done all the patients received NSAIDs without improvement. After the diagnosis everyone began physiotherapy and pharmacologic treatment: pregabaline in 12, minor opioids in 8 and topical capsaicine 8% in 4. Due to refractoriness, a bupivacaina epidural catheter was used in 3 patients.

Currently, 9 patients has no symptoms, with a median time of resolution of 267,8 days (IQR:135–330) and 6 patients are still being monitored because of persistent symptoms, with a median time of evolution of 246 days (IQR: 94–342).

At the bivariant analysis no relation was found between time until resolution and duration of immobilization neither unfavorable psychological factors, but we found a strong possitive correlation with the time of diagnostic delay (Rho: 0,85; p = 0,007).

Conclusion: Frequently there is a trauma history in CRPS in children but it is not always present.

Althoug imaging tests are really helpfull to establish the diagnosis, sometimes they do not show any changes.

It requires a multidisciplinary approach with physiotherapy and analgesia as the fundamental basis of it.

The presence of desfavourable psycological factors in nearly a half of patients makes it essential a professionalized aproach to this level to manage an adequate control of the disease.

An early diagnose determines a faster clinical resolution, that is why a high suspicion rate is needed.

Disclosure of Interest

None Declared

Correspondence: Nihal Sahin

Introduction: Synovial haemangioma is a rare type of tumor which affects the knee joint. Patients who are usually female and their second decade of life, often apply nonspesific symptoms like pain and limitation of motion. When this uncommon tumor is untreated, it can cause cartilage erosion and degenerative joint disease. Because of its rarity, physician awareness is low that results in delayed diagnosis. We presented a synovial haemangioma of the knee to increase awareness of pediatricians.

Objectives: Clinical case

Methods: A 17-year-old girl was admitted to Erciyes Unversity Faculty Of Medicine Peidatric Rheumatology in January 2017 with complaints of pain, swelling and tenderness in her left knee.

Results: A 17-year-old girl was admitted with complaints of pain, swelling and tenderness in her left knee since she was 3 years old. With the previously magnetic resonance imaging of the knee joint, she was diagnosed as chronic arthritis on the knee joint. Non-steroidal anti-inflammatory drugs were recommended. Patient applied to our hospital because of ongoing complaints. There was no any arthritis finding including tenderness, pain on motion, deformity, and limitation of motion. On the upper part of left knee, she had localized swelling measuring 3,5×4 cm in diameter. Magnetic resonance imaging (MRI) showed synovial haemangioma characterized by a well-circumscribed contour with a lobule filling the left suprapatellar bursa and space- filling formation with heterogeneous intense contrast enhancement after contrast agent administration. It was required open total synovectomy and mass resection, and histopathological findings were compatible with cavernous haemangioma.

Conclusion: Tumor and tumor like lesions such as synovial haemangiomas should be kept in mind in patients with arthritis- compatible findings in single joint. In case of doubt, especially intra-articular lesions, imaging methods should be used for early diagnosis and prevent long term sequel.

Disclosure of Interest

None Declared

Correspondence: Reem Abdwani

Introduction: SLE s an autoimmune disease that affect women primarily of childbearing age. As a consequence, pregnancy and its neonatal outcome are of particular importance in this condition. It appears that individual races and ethnicities may exhibit differences in disease susceptibility and disease manifestations. There are limited studies in SLE patients emanating from Arab world, however, it is recognized that Arabs experience a different disease burden than Caucasians

Objectives: To determine differences in maternal and neonatal outcomes in pregnancies complicated with systemic lupus erythematosus (SLE) compared to those with normal pregnancies in Arab women from Sultanate of Oman.

Methods: A retrospective analysis of 147 pregnant mothers with their corresponding infants was enlisted (56 (38%) SLE mothers and 91 (62%) pregnant controls). Analyses were performed using descriptive statistics.

Results: The overall mean age of the cohort was 30 ± 5 years ranging from 19 to 44 years. The SLE mothers were mainly treated with hydroxychloroquin (n = 41; 73%), prednisolone (n = 38; 68%) and azathioprine (n = 17; 30%). Disease activity revealed that 39% (n = 22) had no disease activity while 41% (n = 23), 13% (n = 7) and 7.1% (n = 4) had mild (SLEDAI, 1–5), moderate (SLEDAI, 6–10) and severe (SLEDAI, ³11), respectively. The SLE mothers were associated more with abortions (43% vs. 15%; p < 0.001), gestational diabetes (28% vs. 10%; p = 0.004), polyhydramnious (7.1% vs. 0; p = 0.020), pre-term labor (21% vs. 1.1%; p < 0.001), previous pre-term (8.9% vs. 1.1%; p = 0.030) and intra-uterine growth retardation (21% vs. 0; p < 0.001) when compared to normal pregnant controls. Furthermore, the neonates born to SLE mothers were more likely to be pre-term (29% vs. 1.1%; p < 0.001), had low birth weight (<2500 g) (32% vs. 1.1%; p < 0.001) and associated with still birth (7.1% vs. 0; p = 0.010) when compared to neonates born to normal pregnancies (Table 2).

Conclusion: SLE mothers were associated with worse neonatal and maternal outcomes when compared to normal pregnant mothers despite adequate disease control and antenatal follow up.

Disclosure of Interest

None Declared

Correspondence: Erato Atsali

Introduction: Hepatic involvement in patients with SLE is well documented, but considered to be rare. To distinguish whether elevated liver enzymes in patients with SLE represent a non-specific hepatic involvement or AIH remains a difficult challenge for the treating physician.

Objectives: We present the case of a 17,5 years old girl with Juvenile Systemic Lupus Erythematosus initially diagnosed as autoimmune hepatitis.

Methods: A 15,5 years old girl with the diagnosis of autoimmune hepatitis presented to our department two years ago seeking a second opinion. Laboratory exams done due to a persistent maculopapular rash of hands, elbows and feets (considered initially as contact dermatitis) had revealed a significant increase of transaminase levels (4fold above the upper normal limit). Gamma glutamyl transpeptidase, rheumatoid factor IgM and immunoglobulin G were also elevated. A more extensive laboratory work up excluded viral hepatitis A,B and C, Wilson disease and celiac disease. Serological work up revealed positive antinuclear (ANA), smooth muscles antibodies (SMA) and anti liver cytosol type 1 (anti –LC-1) antibodies.IgM antibodies against Coxsackie virus, ECHO virus and Epstein Barr virus were also positive. Liver biopsy was performed and revealed no pathology. Based on serological markers the diagnosis of AIH was considered as most probable and the girl was started on per os prednisolone therapy (0,5 mg/kg).

Results: On physical examination the girl had reticular peliosis, arthritis of metatarsophalangeal joints and a papular rash of hands, elbows and feet with no clinical sign of chronic liver disease (jaundice,firm liver,hepato/spleno megaly,palmar erythema).Based on normal liver histology we considered the diagnosis of autoimmune hepatitis as less probable. Supplemental laboratory exams revealed low complement C3 and positive anti Ro antibodies and Coombs test.Cardiological examination showed a small pericardial effusion. SLE was diagnosed and hydroxychloquine was added to treatment. Nine months later,while receiving a low dose of steroids,she developed a typical malar rash and nephritis with significant proteinuria and hypoalbuminemia. A renal biopsy showed early membranous nephritis. Treatment with pulses of methylprednisolone (3 pulses on 3 consecutive days,1gr each), followed by per os steroids and azathioprine were started leading to a complete resolution of malar rash, cutaneous eruptions and proteinuria.Steroids were slowly tapered. The girl is now treated with hydroxychloquine,azathioprine (2,5 mg/kg) and a low dose of prednisolone (5 mg/day).SLE activity remains low (SLEDAI 2 K:2).

Conclusion: Specific markers for AIH are soluble liver antigen (SLA), liver-pancreas, smooth-muscle antibody (SMA) with specificity for F-actin and microsomal autoantigens, such as anti-liver kidney antibodies (anti-LKM antibody). While these markers may help to differentiate AIH from SLE serologically, liver histopathology represents the key feature that distinguishes AIH in SLE from nonspecific hepatic involvement in SLE. In patients with AIH liver histopathology shows characteristic lesions, such as interface hepatitis, rosetting of hepatocytes, emperipolesis and – consecutive to inflammation – fibrosis. As the diagnosis of AIH in SLE patients can influence treatment choices, longterm outcome and optimal surveillance of the patients, adequate attention should be taken to differentiate between “true additional” AIH and secondary liver involvement.

Disclosure of Interest

None Declared

Correspondence: Mahesh Janarthanan

Introduction: Cardiac manifestations in childhood SLE are not uncommon. Up to 50% of patients can have cardiac manifestations including pericarditis, pericardial effusion or valvular vegetations.A significant proportion of these patients do not have cardiac related symptoms and these manifestations are picked up on screening by echocardiogram.

Objectives: Severe ventricular systolic dysfunction is very rare as a presenting manifestation in childhood SLE.

Methods: We present the case of a 15 year old boy with childhood SLE who presented to us with pyrexia of unknown origin and severe ventricular systolic dysfunction needing immune modulators,inotropic and ventilator support.

Results: A 15 year old boy presented with history of fever for 15 days and 2 episodes of generalized tonic,clonic seizures. He did not have any other features suggestive of connective tissue disorder.His investigations on admission revealed Hb-10.9gms/dl, Total white cell count- 5400cells/cumm, Polymorphs 79%, Lymphocytes −15.9%, Platelet count 122000,ESR – 71 mm/hr. Direct Coomb’s test was negative.His liver function tests showed transaminitis SGOT 442U/l and SGPT 131 U/l. Serum uric acid 8.6 mg/dl and serum LDH 2387 U/l were elevated. Serum creatinine was 1 mg/dl and urine routine showed 1+ proteinuria with few red blood cells. Bone marrow examination revealed reactive changes.

Cerebro spinal fluid analysis and MRI brain were normal. He was commenced on empirical antibiotics and antiviral agents. On day 3 of admission to hospital he developed breathing difficulty with dropping of blood pressure. Chest Xray showed cardiomegaly.Echocardiogram at this stage revealed severe left ventricular dysfunction with an ejection fraction of 20% and mild pericardial effusion. He was treated with ventilatory and inotropic support.The results of his autoimmune work were now available and this revealed ANA positive 1:320 and low complement levels. dsDNA, ENA and APLA work up were negative.

He was treated with dobutamine, milrinone,spirinolactone and furosemide infusion. He also received pulsed methylprednsiolone, IVIG and cyclophosphamide.The patients hemodynamic status improved gradually and he was weaned off inotropic and ventilatory support over 2 weeks. After he stabilized a renal biopsy was done and this revealed class III lupus nephritis. The patient is currently on a maintainence regimen with low dose steroids, hydroxychloroquine, mycophenolate mofetil and enalapril.

Conclusion: Severe ventricular dysfunction with very low ejection fraction as presenting cardiac manifestation of SLE has rarely been reported in childhood SLE. Combination of supportive measures, pulsed high dose methylprednisolone, IVIG and cyclophosphamide was life saving in this patient.

Disclosure of Interest

None Declared

Correspondence: Vladimir Keltsev

Introduction: Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease in children and it is characterized by a primary lesion of the joints, organs and tissues with the formation of multiple organ failure of varying severity.

Objectives: The article describes the results of studying the efficacy and safety of adalimumab in combination with methotrexate (n = 14) and methotrexate monotherapy (n = 17) when treating the patients with polyarticular JIA refractory to the basic immunosuppressive therapy.

Methods: Retrospective analisis of 31 patient with JIA

Results: It was shown that the combination therapy induced the remission of arthritis in children with JIA in a shorter period of time. It should be noted that adalimumab in combination with methotrexate was well. tolerated and no serious adverse effects were recorded. Thus, the introduction of adalimumab in the treatment regimen of children with JIA refractory to the basic immunosuppressive therapy allowed for the rapid disease remission while preserving the effect in a significant number of patients during the following year.

Conclusion: Definition levels cytokins in blood and synovial fluids appears important investigation for diagnostic and effective therapy Juvenile Idiopathic Arthritis in patients.

Disclosure of Interest

None Declared

Correspondence: Jung-Woo Rhim

Introduction: Childhood polyarteritis nodosa (PAN) is a rare systemic inflammatory disease characterized by systemic necrotizing vasculitis of the small or medium sized arteries that leads to infarct, and aneurysms in various organs.

Objectives: We wish to share our experience of systemic polyartertis nodosa.

Methods: Case presentation

Results: A 7 year-old girl was admitted due to sudden onset of painful blackish discoloration of right 2^nd, 4^th and left 2^nd finger tips from proximal interphalangeal joints with fever. She could not walk by herself because of myalgia on both lower extremities. On admission, body temperature was 38.5 °C, and blood pressure 150/86. Physical examination showed gangrenous change of finger tips and tender swelling on right ankle joints. Initial laboratory data showed leukocytosis with dominant neutrophils, high C-reactive protein and ESR. Autoantibodies including ANA and ANCA showed negative. We identified microscopic hematuria. CT angiography for upper and lower extremities showed diffuse swelling with soft tissue fatty infiltration on both fingers, but no definite vessel and its branch abnormalities and renal arteries. Brain MRA showed luminal irregularity at intracranial major arteries compatible with arteritis, but no definite aneurysm. Electromyographic findings for motor showed decreased amplitudes in right median and ulnar nerves. Skin biopsy showed perivascular lymphohistiocytic infiltration compatible with vasculitis without any immunofluorescent staining. Culture for skin, blood, and urine was no any organisms. We diagnosed with systemic PAN including skin change, arthralgia and myalgia, hematuria, histologic findings and neuropathy. We started with low molecular weight heparin, prostaglandin E for prevention of thrombisis, and morphin for pain control. She received intravenous immunoglobulin and intravenous steroid. She was improved symptoms after steroid therapy, but still no changes of digital gangrene. We changed anti-coagulation therapy to Warfarin. She was tolerable after oral steroid and warfarin.

Conclusion: We present a girl with systemic polyarteritis nodosa as initial manifestation of digital gangrene.

Disclosure of Interest

None Declared

Correspondence: Andrei Santimov

Introduction: Kawasaki disease (KD) is an acute systemic vasculitis of unknown etiology affecting most often children younger than 5 years of age and characterized by high fever, bilateral conjunctival hyperemia, mucosal changes of the oropharynx, erythematosus rash, erythema and indurative edema of the hands and feet, and cervical lymphadenopathy. Approximately 20–25% of untreated patients develop coronary artery changes with a range of severity from asymptomatic coronary artery dilatation or aneurysms to giant coronary artery aneurysms with thrombosis, myocardial infarction and sudden death. To date there is no official data on the incidence of KD in Russia. In Russia the disease to date is not enough known to a wider circle of doctors and often goes under the “mask” of other more common diseases. In Saint-Petersburg since 2010 has dramatically increased the recognition rate of KD.

Objectives: to review the experience of diagnosis and treatment of KD in the two largest hospitals in St. Petersburg.

Methods: the retrospective study included data on 30 children (18 boys, 12 girls) who were hospitalized with a diagnosis of KD in the clinics of Saint-Petersburg State Pediatric Medical University and Children’s Hospital No. 1 (St. Petersburg) from January 2011 to September 2016. Data is represented by the median and extreme ranges.

Results: the age of the children was 2,8 years (0,2; 4,6), 5 patients (16,7%) were under the age of 1 year. The children were hospitalized on the 5^th days of illness (1; 14 days), the diagnosis of KD was established on the 9^th day of the disease (3; 52). Immediately after diagnosis aspirin have got 27 children (90%). In the early stages (before 10 days of illness), therapy with intravenous immunoglobulin has received 15 children (50%), 1 of them received intravenous immunoglobulin before 5 days of illness (on day 3) and has not responded to the treatment. On 11–20 day (immediately after diagnosis) treatment with intravenous immunoglobulin received 10 children (33,3%), after which the fever decreased in all patients. Fever was stopped on day 11 (6; 23). Lesions in coronary arteries by ultrasound were diagnosed in 13 children (43,3%). The youngest patient who became ill at the age of 3 months and received intravenous immunoglobulin on the 30^th day of illness dead.

Conclusion: KD should always be included in the differential diagnosis in children of early age with prolonged fever, especially in children of the first year of life, which is often observed incomplete forms of KD. It is necessary to increase awareness among clinicians and doctors of ultrasonic diagnostics about KD.

Disclosure of Interest

None Declared

Correspondence: Shama Sowdagar

Introduction: Takayasu arteritis is rare idiopathic chronic granulomatous inflammatory disease of the large vessels that involves the aorta or its branches and the pulmonary arteries.

Objectives: EULAR/PRINTO/PRES Ankara 2008 classification of childhood Takayasu arteritis requires angiographic abnormalities of the aorta or its main branches and pulmonary arteries showing aneurysm/dilatation (mandatory criterion) plus one of the five following criteria: Pulse deficit or claudication, four limbs BP discrepancy, bruits, hypertension and elevated acute phase reactant. In childhood Takayasu arteritis the thoracic and abdominal aorta are the most commonly involved vessels.

Methods: We describe the case of an 8 year old girl with Takayasu arteritis presenting with isolated pulmonary artery involvement.

Results: An 8 year old previously well girl presented with pyrexia of unknown origin of one month duration. She was initially evaluated at another centre where a routine chest X-Ray revealed dilated pulmonary vessels and patchy opacities in superior and lateral segments of right lower lobe and lingual. Though investigations were negative for tuberculosis she was started on empirical antituberculous therapy. In view of persistent fever, new onset cough and exertional dyspnoea she was referred to our centre.

On examination she had grade 2 clubbing, periorbital puffiness, elevated jugular venous pulse, loud second heart sound. Her 4 limb blood pressure readings were normal and there was no hypoxia.

Laboratory investigations showed anemia(9.3gms/dL), elevated inflammatory markers(CRP: 120 mg/L; ESR: 80 mm/hr). Chest x- ray showed marginal cardiomegaly with prominent pulmonary arteries. ECHO showed severe pulmonary hypertension and right ventricular dysfunction. cANCA was weakly positive and pANCA was negative. MRA chest and abdomen showed dilated main, right and left pulmonary arteries and focal thickening with narrowing in the distal right and left pulmonary arteries with dilatation of lobar pulmonary arteries. The thoracic and abdominal aorta were normal.Clinical history, laboratory parameters and imaging were suggestive of Takayasu arteritis with isolated pulmonary arterial involvement.

She was commenced on diltiazem and sildenafil for pulmonary hypertension. For the vasculitis she was treated with steroids, low dose aspirin and monthly cyclophosphamide.

Conclusion: Involvement of pulmonary arteries is common in Takayasu arteritis. Isolated pulmonary arteritis though rare, is reported in adult Takayasu disease. To our knowledge this is the youngest patient to present with isolated pulmonary artery involvement.

Disclosure of Interest

None Declared