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Objectives: To describe the clinical characteristics of hip involvement in juvenile idiopathic arthritis (JIA) from arthritis to hip osteoarthritis (HOA) and total hip arthroplasty (THA).Study Design: Seven hundred fifty-three patients aged 2–17 years with JIA were included in the study. The comparison analysis was performed between the following subgroups: (i) JIA without hip involvement (n = 600; 79.7%) vs. JIA with hip involvement without HOA (n = 105; 13.9%), (ii) JIA with hip involvement with HOA, but without THA (n = 32; 4.3%) and JIA with hip involvement with HOA and with THA (n = 16; 2.1%). Clinical, laboratory characteristics and treatment regimens compared.Results: Hip involvement was present in 20.3% of patients. HOA was present in 6.4% (12*1,000 patient-years) of the entire JIA group and 31.4% of patients with hip involvement. Sixteen patients (2.1%; 4.0*1,000 patient-years) required THA. The following factors were associated with HOA: sJIA (OR = 3.6, p = 0.008; HR = 3.0, p = 0.002), delayed remission (OR = 4.2, p = 0.004; HR = 1.4, p = 0.538), delay in biologic therapy initiation (OR = 7.5, p = 0.00001; HR = 6.7, p = 0.002), alkaline phosphatase <165 U\l (OR = 4.1, p = 0.0003; HR = 5.2, p = 0.000004), treatment with corticosteroids (CS) (OR = 2.6, p = 0.008; HR = 1.2, p = 0.670), cumulative corticosteroids >2,700 mg (OR = 4.3, p = 0.032; HR = 1.4, p = 0.527). The following factors were associated with THA: delay in biologic treatment initiation (OR = 1.04, p = 0.0001; HR = 9.1, p = 0.034), delayed hip involvement (OR = 5.2, p = 0.002; HR = 3.0, p = 0.044), and methylprednisolone pulse therapy (OR = 10.8, p = 0.0000001; HR = 5.6, p = 0.002).Conclusion: Both sJIA and systemic CS, impaired calcium-phosphorus metabolism, and delayed hip arthritis are associated with HOA development in JIA. HOA is considered to be a severe adverse event of CS treatment, especially delayed hip involvement.

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Introduction: 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. Case description: 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. Conclusions: 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.

BACKGROUND: Enthesitis-related arthritis is one of the subtypes of juvenile idiopathic arthritis and is characterized by the involvement of the joints, enthesitis, and axial skeleton (sacroiliitis and spondylitis). The clinical variability of enthesitis-related arthritis and similar manifestations with orthopedic diseases present difficulties in diagnosis. AIM: To present the clinical features of enthesitis-related arthritis and issues of differential diagnosis based on literature analysis. MATERIALS AND METHODS: A literature search was conducted in the open electronic databases of eLibrary, PubMed, and Cochrane Library. In total, 46 foreign and 4 Russian publications were analyzed, which were limited to 19812021. The keywords used in the literature search were as follows: enthesitis, enthesitis-related arthritis, juvenile spondyloarthritis, and SAPHO syndrome. Own archive data for instrumental investigations were used in the article. RESULTS: The clinical manifestations can be variable, and laboratory tests do not always allow us to prove the inflammatory nature of the pain syndrome. The most priority diagnostic tests were imaging methods, namely, magnetic resonance imaging and ultrasonography. The greatest diagnostic difficulty was found in patients in whom enthesitis prevailed over arthritis, and in some cases, it was the only disease manifestation. The classification criteria used for the diagnosis of EAA were considered. The differential diagnosis of enthesitis included various orthopedic diseases. Ultrasound diagnostics of joints and enthesis should be performed in every patient with local pain musculoskeletal symptoms, which allows patients to be correctly routed. CONCLUSIONS: The alertness of both orthopedists in relation to enthesitis-related arthritis and the awareness of rheumatologists of the most common orthopedic diseases that affect the entheses are necessary.