Chronic non-bacterial osteomyelitis (CNO) is a group of immune-mediated diseases which appears in bone inflammation, destruction and some orthopaedic consequences, especially in the cases of spinal ...involvement. This study is to compare characteristics and treatment outcomes of CNO patients with spinal involvement. The retrospective cohort study included data from 91 pediatric patients with CNO. The diagnosis is based on Jannson’s criteria with morphological confirmation (nonspecific chronic inflammation). Spine involvement detected by X-ray, computed tomography, magnetic resonance imaging, and bone scan in 29 (31.9%) patients. No differences in the family history, concomitant immune-mediated diseases between spinal (SpCNO) and peripheral (pCNO) forms of CNO have been revealed. Only 5 (10.2%) SpCNO patients (10.2%) had monofocal monovertebral involvement. The main risk factors of spinal involvement were female sex: RR = 2.0 (1.1; 3.9), sensitivity (
Se
) = 0.66, specificity (
Sp
) = 0.6; multifocal involvement: RR = 2.1 (0.9; 5.0),
Se
= 0.83,
Sp
= 0.37; no foot bones involvement: RR = 3.1 (1.3; 7.5),
Se
= 0.83,
Sp
= 0.5; sternum involvement RR = 2.3 (1.3; 4.1),
Se
= 0.24,
Sp
= 0.94. In the linear regression analysis only female sex (
p
= 0.005), multifocal involvement (
p
= 0.000001) and absence of foot bones involvement (
p
= 0.000001) were independent risk factors of spinal involvement (
p
= 0.000001). The response rate on bisphosphonates and tumor necrosis factor-a inhibitors was 90.9% and 66.7%, consequently. Only 4/29 (13.8%) SpCNO patients underwent surgery due to severe spinal instability or deformities. The spinal involvement is frequent in CNO and could be crucial for choosing a treatment strategy. Bisphosphonates and TNFa-inhibitors could be effective treatment options for severe SpCNO.
Drug-induced hypersensitivity syndrome (DiHS)/drug reaction with eosinophilia and systemic symptoms (DRESS) is a systemic inflammatory condition that is characterized by multisystemic involvement ...(liver, blood, and skin), heterogeneous manifestations (fever, rash, lymphadenopathy, and eosinophilia), and an unpredictable course; cases of DiHS/DRESS caused by sulfasalazine are rare in children compared to adults. We report a case of a 12-year-old girl with juvenile idiopathic arthritis (JIA) and sulfasalazine-related hypersensitivity who developed fever, rash, blood abnormalities, and hepatitis complicated with hypocoagulation. The treatment with intravenous and then oral glucocorticosteroids was effective. We also reviewed 15 cases (67% male patients) of childhood-onset sulfasalazine-related DiHS/DRESS from the MEDLINE/PubMed and Scopus online databases. All reviewed cases had a fever, lymphadenopathy, and liver involvement. Eosinophilia was reported in 60% of patients. All patients were treated with systemic corticosteroids, and one patient required emergency liver transplantation. Two patients (13%) died. A total of 40.0% of patients satisfied RegiSCAR definite criteria, 53.3% were probable, and 80.0% satisfied Bocquet's criteria. Only 13.3% satisfied typical and 20.0% atypical DIHS criteria from the Japanese group. Pediatric rheumatologists should be aware of DiHS/DRESS due to its similarities to other systemic inflammatory syndromes (especially systemic JIA, macrophage activation syndrome, and secondary hemophagocytic lymphohistiocytosis). Further studies of DiHS/DRESS syndrome in children are needed to improve its recognition and differential diagnostic and therapeutic options.
Our study aimed to evaluate the clinical and laboratory features of juvenile idiopathic arthritis (JIA) children with temporomandibular joint (TMJ) arthritis. In the retrospective cohort study, we ...analyzed data of 753 patients with JIA aged 2-17 years, depending on TMJ arthritis or not. TMJ arthritis can to be diagnosed in the presence of at least two of the following clinical signs of inflammation: pain in TMJ, jaw opening limitation, jaw opening deviation, and micrognathia. We compared clinical, laboratory, and treatment features in JIA patients depending on the involvement of TMJ. TMJ arthritis was detected in 43 (5.7%) of our patients and associated with a longer course of the disease, polyarticular JIA category, treatment with systemic corticosteroids, and longer achievement of the remission and involvement of cervical spine, hip, and shoulder. Active joints >8 (OR = 14.9,
= 0.0000001), delayed remission >7 years (OR = 3.1;
= 0.0004), delayed hip involvement (OR = 4.6;
= 0.041), hip osteoarthritis (OR = 4.0;
= 0.014), cervical spine arthritis (OR = 10.3,
= 0.000001), and corticosteroid treatment (OR = 2.3,
= 0.0007) were associated with TMJ involvement. Patients with TMJ arthritis require more biologics (OR = 3.2,
= 0.0006, HR = 2.4,
= 0.005) and have decreased probability of remission achievement (
= 0.014). Consequently, TMJ arthritis was associated with a severe disease course. Early biologic treatment and corticosteroid avoidance might decrease TMJ involvement.
Aicardi-Gouteres syndrome (AGS) is a monogenic interferonopathy characterized by early onset, dysregulation of skin (chilblain lesions), brain, and immune systems (fever, hepatomegaly, glaucoma, ...arthritis, myositis, and autoimmune activity). The disease looks like TORCH (Toxoplasmosis, Others, Rubella, Cytomegalovirus, Herpes) infection with early-onset encephalopathy resulting in severe neuropsychological disability.
A six-year-old girl has been suffering from generalized seizures, fever episodes, severe psychomotor development delay, and spastic tetraparesis since the first year of her life. Her two elder brothers died at a young age from suspected infantile cerebral palsy (ICP). Other siblings (younger brother and two elder sisters) are as healthy as their parents. The girl was diagnosed with juvenile dermatomyositis at 5.5 years. Basal ganglia, periventricular, and cerebellum calcifications; hypoplasia of the corpus callosum; and leukodystrophy were detected on CT. The IFN-I score was 12 times higher than normal. The previously not described nucleotide variant c.434G > C (chr 20:36935104C > G; NM_015474) was detected in exon 4 of the SAMHD1 gene in the homozygous state, leading to amino acid substitution p.R145P. Aicardi-Goutières syndrome 5 was diagnosed. Her treatment included corticosteroids, methotrexate, and tofacitinib 5 mg twice a day and it contributed to health improvements. The following brain CT depicted the previously discovered changes without the sign of calcification spreading.
Early diagnosis of AGS is highly important as it allows starting treatment in a timely manner. Timely treatment, in return, can help avoid the development/progression of end-organ damage, including severe neurological complications and early death. It is necessary to spread information about AGS among neurologists, neonatologists, infectious disease specialists, and pediatricians. A multidisciplinary team approach is required.
Fibrodysplasia ossificans progressive (FOP) is an ultra-rare genetic disorder that is caused by a mutation in the ACVR1 gene and provokes severe heterotopic ossification. Since flares of the disease ...are associated with inflammation, it is assumed that JAK inhibitors can control active FOP due to blocking multiple signaling pathways. Keywords: Fibrodysplasia ossificans progressiva, FOP, Heterotopic ossification, Tofacitinib, Autoinflammation, Spondyloarthritis-like disease, ACVR1 gene, Bone morphogenetic protein, BMP
Osteomyelitis is a group of bone infectious (bacterial osteomyeilitis-BO) and noninfectious inflammatory diseases (nonbacterial osteomyelitis-NBO) with similar clinical, radiology, and laboratory ...features. Many patients with NBO are misdiagnosed as BO and receive unnecessary antibiotics and surgery. Our study aimed to compare clinical and laboratory features of NBO and BO in children, to define key discriminative criteria, and to create an NBO diagnostic score (NBODS).
The retrospective multicenter cohort study included clinical, laboratory, and instrumental information about histologically confirmed NBO (
= 91) and BO (
= 31). The variables allowed us to differentiate both conditions used to construct and validate the NBO DS.
The main differences between NBO and BO are as follows: onset age-7.3 (2.5; 10.6) vs. 10.5 (6.5; 12.7) years (
= 0.03), frequency of fever (34.1% vs. 90.6%,
= 0.0000001), symptomatic arthritis (67% vs. 28.1%,
= 0.0001), monofocal involvement (28.6% vs. 100%,
= 0.0000001), spine (32% vs. 6%,
= 0.004), femur (41% vs. 13%,
= 0.004), foot bones (40% vs. 13%,
= 0.005), clavicula (11% vs. 0%,
= 0.05), and sternum (11% vs. 0%,
= 0.039) involvement. The following four criteria are included in the NBO DS: CRP ≤ 55 mg/l (56 points), multifocal involvement (27 points), femur involvement (17 points), and neutrophil bands ≤ 220 cell/μl (15 points). The sum > 17 points allowed to differentiate NBO from BO with a sensitivity of 89.0% and a specificity of 96.9%.
The diagnostic criteria may help discriminate NBO and BO and avoid excessive antibacterial treatment and surgery.
To develop and validate cutoff values in the systemic Juvenile Arthritis Disease Activity Score 10 (sJADAS10) that distinguish the states of inactive disease (ID), minimal disease activity (MiDA), ...moderate disease activity (MoDA), and high disease activity (HDA) in children with systemic juvenile idiopathic arthritis (sJIA), based on subjective disease state assessment by the treating pediatric rheumatologist.
The cutoffs definition cohort was composed of 400 patients enrolled at 30 pediatric rheumatology centers in 11 countries. Using the subjective physician rating as an external criterion, 6 methods were applied to identify the cutoffs: mapping, calculation of percentiles of cumulative score distribution, Youden index, 90% specificity, maximum agreement, and ROC curve analysis. Sixty percent of the patients were assigned to the definition cohort and 40% to the validation cohort. Cutoff validation was conducted by assessing discriminative ability.
The sJADAS10 cutoffs that separated ID from MiDA, MiDA from MoDA, and MoDA from HDA were ≤ 2.9, ≤ 10, and > 20.6. The cutoffs discriminated strongly among different levels of pain, between patients with or without morning stiffness, and between patients whose parents judged their disease status as remission or persistent activity/flare or were satisfied or not satisfied with current illness outcome.
The sJADAS cutoffs revealed good metrologic properties in both definition and validation cohorts, and are therefore suitable for use in clinical trials and routine practice.
PANS, or Pediatric Acute-onset Neuropsychiatric Syndrome, is characterized by the sudden onset of obsessive-compulsive syndrome and accompanied by anxiety, emotional lability and other symptoms. ...PANDAS, or Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal Infections, is a subtype of PANS. Modern data on PANS/PANDAS etiology, pathogenesis, diagnostics and management is presented in this article. Therapeutic decisions on using anti-inflammatory and immunotropic therapy including non-steroidal anti-inflammatory drugs, glucocorticoids, intravenous immunoglobulin, plasmapheresis, rituximab and mycophenolate mofetil are analysed.
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