Case report of streptococcal infection as a potential precipitating factor in cutaneous polyarteritis nodosa in pediatric patients.

Key Clinical Message: This pediatric case report underscores the importance of maintaining a high clinical suspicion for polyarteritis nodosa (PAN) in patients presenting with atypical features, such as migratory arthritis and subcutaneous nodules. Importantly, it highlights the focus on the potential relationship between streptococcal infection and cutaneous PAN. Early recognition and prompt, aggressive treatment is critical, as PAN can be a life-threatening condition if left unmanaged. This case emphasizes the need for a multidisciplinary approach to effectively identify and manage this rare vasculitis disorder in the pediatric population. Abstract: Polyarteritis nodosa (PAN) is a rare and life-threatening vasculitis with diverse clinical presentations, posing a diagnostic challenge. Early recognition and prompt intervention are crucial to prevent organ damage. We present the case of an 8-year-old boy who exhibited atypical symptoms including migratory arthritis, myalgia, digital discoloration and ischemic changes, and subcutaneous nodules. Initial concerns for septic arthritis were ruled out. A comprehensive evaluation revealed elevated inflammatory markers and a confirmatory skin biopsy demonstrating active leukocytoclastic vasculitis, are highly suggestive of a diagnosis of PAN. Notably, elevated ASO titers suggested a possible concurrent streptococcal infection. The aggressive treatment approach with high-dose aspirin, steroids, methotrexate, and tocilizumab is justified given the severity of the patient's symptoms and the nature of the disease process. This case underscores the importance of considering PAN in the differential diagnosis for children presenting with atypical features. Early diagnosis and prompt intervention, including addressing potential infectious triggers, are crucial for optimal outcomes in pediatric PAN.

A case report of Hyper-IgD syndrome in a 5-year-old girl with recurrent fever, skin rash, and arthralgia; novel MVK mutation (C.298G>A).

Key Clinical Message: This case highlights the potential for later-onset Hyper-IgD syndrome (HIDS) even beyond infancy. Clinicians evaluating children with recurrent fever, skin rash, and arthralgia should consider HIDS in the differential diagnosis, regardless of age. Early suspicion and genetic testing can lead to a timely diagnosis and targeted therapy with Anakinra, significantly improving patient outcomes. Abstract: Hyper-IgD syndrome (HIDS) is a rare autosomal recessive autoinflammatory disorder characterized by recurrent episodes of fever, lymphadenopathy, arthralgia, diarrhea, abdominal pain, and skin rash. In this case report, we present a 5-year-old girl from Tajikistan with a mutation in the mevalonate kinase (MVK) gene, which is consistent with a diagnosis of HIDS. The clinical symptoms of the patient are described, along with immunological, hematological, and biochemical findings collected from the evaluation in the rheumatology clinic. Additionally, whole-exome sequencing revealed a heterozygous missense variation in exon 4 of the MVK gene. The diagnosis of HIDS in this case occurred at a later age than typically observed, emphasizing the importance of considering this condition even in older patients. This report highlights the broad clinical phenotype of MVK and the need for increased awareness among healthcare professionals regarding its clinical presentation and management.

Correlation between antiphospholipid antibodies and renal involvement in children with Henoch-Schönlein purpura: A cross-sectional study.

Background: Renal involvement is the most damaging long-term complication of Immunoglobulin-A (IgA) vasculitis. In the lack of a definite predictive biomarker for renal involvement, antiphospholipid antibodies (aPL) have been proposed in recent years. Methods: In this prospective cohort of 48 pediatric patients who were admitted with IgA vasculitis from September 2015 to June 2017, two serum samples were taken 12 weeks apart to detect Anti-Phospholipid antibodies. All patients were followed-up for renal involvement for six months. Results: Renal involvement occurred in 14 out of 48 patients with IgA vasculitis (29.16%). APLs were positive in nine out of 14 patients with IgA vasculitis and renal involvement (64.28%), in contrast to only six out of 34 patients with IgA vasculitis without renal involvement (17.64%). The presence of aPL antibodies was statistically associated with renal involvement (P=0.002). Although, the relationship between both sex (P=0.025) and age (P=0.046) with aPL positivity was statistically significant, performing a modified logistic regression test, the odds ratio was significant between the groups with and without renal involvement only in term of age and aPL positivity). Conclusion: The presence of aPL antibodies was statistically associated with renal involvement. We found a significant relationship between the age and aPL positivity. Hence, we need multicenter, more extensive cohort studies to reach a better and more accurate conclusion on the relationship between serum aPLs and renal involvement in IgA vasculitis patients.

Investigating the comparative effect of vitamin D level with the type of complications in Henoch Schönlein purpura and Kawasaki disease.

INTRODUCTION AND OBJECTIVES: Henoch Schönlein purpura (HSP) and Kawasaki disease (KD) are two main inflammatory diseases among childhood vasculitis. Considering the anti-inflammatory effects of 25-hydroxyvitamin D3, we decided to investigate the association of serum 25-hydroxy vitamin D3 level with the type and severity of these conditions. MATERIALS AND METHODS: The present study was performed as a historical cohort of 254 affected children with KD and HSP vasculitis. The required data were extracted, using a researcher-made questionnaire from patients' electronic file, and then they were analyzed after collecting information of the patients. RESULTS: In HSP group, 54% of participants were boys. Similarly, in KD group, boys were more affected than girls. The comparative 25-hydroxyvitamin vitamin D3 level in HSP patients with and without renal involvement (P=0.02), hematuria (P=0.14), and in two groups with and without heart disease, and also with and without coronary artery dilatation in KD patients (P<0.001) were significant. DISCUSSION AND CONCLUSIONS: The findings showed that insufficient level of vitamin D3 were significantly associated with the exacerbation of complications of both diseases, and therefore it seems that vitamin D deficiency can be an effective predictive factor of severity in HSP and KD patients.

Mixed Connective Tissue Disease (MCTD) in a Girl with Lower Extremities Edema: A Brief Report.

BACKGROUND: Mixed Connective Tissue Disease (MCTD) is a rare condition in children, characterized by a high titer of anti-ribonucleoprotein-U1 (anti-U1 RNP) antibodies, often presenting with overlapping features of two or more rheumatologic disorders, including juvenile idiopathic arthritis (JIA), systemic lupus erythematous (SLE), systemic sclerosis (SSc), and juvenile dermatomyositis/polymyositis (JDM/PM). CASE PRESENTATION: We report the case of an 8-year-old girl with a history of fever, hair loss, lower extremities edema, weakness, oral aphthous ulcers, and a high titer of anti-U1 RNP antibodies, which is consistent with the diagnosis of MCTD. The patient received immunomodulator drugs, and her disease went into remission. CONCLUSION: Diagnosing MCTD in pediatric patients can be challenging. It should be considered especially in cases with recurrent muscular weakness or pain, lupus-like manifestations, and edema. Moreover, serum anti-U1 RNP testing can be a helpful diagnostic tool.

Investigating the comparative effect of vitamin D level with the type of complications in Henoch Schönlein purpura and Kawasaki disease / Investigación del efecto comparativo del nivel de vitamina D con el tipo de complicaciones en la púrpura de Henoch-Schönlein y la enfermedad de Kawasaki

Introduction and objectives: Henoch Schönlein purpura (HSP) and Kawasaki disease (KD) are two main inflammatory diseases among childhood vasculitis. Considering the anti-inflammatory effects of 25-hydroxyvitamin D3, we decided to investigate the association of serum 25-hydroxy vitamin D3 level with the type and severity of these conditions. Materials and methods: The present study was performed as a historical cohort of 254 affected children with KD and HSP vasculitis. The required data were extracted, using a researcher-made questionnaire from patients’ electronic file, and then they were analyzed after collecting information of the patients. Results: In HSP group, 54% of participants were boys. Similarly, in KD group, boys were more affected than girls. The comparative 25-hydroxyvitamin vitamin D3 level in HSP patients with and without renal involvement (P=0.02), hematuria (P=0.14), and in two groups with and without heart disease, and also with and without coronary artery dilatation in KD patients (P<0.001) were significant. Discussion and conclusions: The findings showed that insufficient level of vitamin D3 were significantly associated with the exacerbation of complications of both diseases, and therefore it seems that vitamin D deficiency can be an effective predictive factor of severity in HSP and KD patients.(AU)

Introducción y objetivos: La púrpura de Henoch-Schönlein (HSP) y la enfermedad de Kawasaki (EK) son dos patologías inflamatorias principales entre las vasculitis infantiles. Teniendo en cuenta los efectos antiinflamatorios de la 25-hidroxivitamina D3, decidimos investigar la asociación del nivel sérico de esta con el tipo y la gravedad de dichas afecciones. Materiales y métodos: El presente estudio se realizó como una cohorte histórica de 254 niños afectados con vasculitis por EK y HSP. Los datos requeridos se extrajeron mediante un cuestionario elaborado por un investigador del expediente electrónico de los pacientes y se analizaron después de recopilar la información de los usuarios. Resultados: En el grupo HSP, 54 y 46% de los participantes eran niños y niñas, respectivamente. De manera similar, en el grupo KD, los varones se vieron más afectados. El nivel comparativo de 25-hidroxivitamina D3 en pacientes con HSP con y sin afectación renal (p = 0,02), hematuria (p = 0,14), y en dos grupos con y sin enfermedad cardiaca, y en dos con y sin dilatación de la arteria coronaria en usuarios con EK (p < 0,001) fueron significativos. Discusión y conclusiones: Los hallazgos mostraron que los niveles insuficientes de vitamina D se asociaron significativamente con la exacerbación de las complicaciones de ambas enfermedades, por lo que parece que la deficiencia de vitamina D puede ser un factor predictivo eficaz de la gravedad en pacientes con HSP y EK.(AU

Local injection of infliximab into calcinosis lesions in patients with juvenile dermatomyositis (JDM): a clinical trial.

BACKGROUND: Juvenile Dermatomyositis (JDM) is a rare autoimmune disorder that primarily affects muscles and skin. One of the severe complications associated with JDM is calcinosis, and treating this condition presents significant challenges. This study aimed to evaluate the efficacy and safety of local injection of infliximab into calcinosis lesions in patients with JDM. METHODS: In this clinical trial, five patients diagnosed with JDM and calcinosis lesions were enrolled. The primary treatment consisted of weekly infliximab injections for 16 weeks, targeting all four sides of each lesion. Lesion dimensions, including length and width, were documented and monitored weekly. Before the intervention, patients underwent radiographic imaging. After the final injection in week 16, a follow-up radiographic assessment was performed. Data were analyzed using the Generalized Estimating Equation (GEE) method. RESULTS: The lesions' size significantly decreased in both length and width during each visit. On average, the lesion length reduced by 2.66%, and the width shrank by 3.32% per visit. Based on radiographic findings, the average length and width of lesions at the initial visit were 12.09 ± 5.05 mm (range: 6.00-25.50 mm) and 6.35 ± 3.00 mm (range: 2.00-16.00 mm), respectively. The average length and width at the last visit were 5.59 ± 7.05 mm (range: 0-23.00 mm) and 3.41 ± 4.05 mm (range: 0-13.00 mm), respectively. No specific side effects related to the treatment were reported. CONCLUSIONS: The results suggest that the direct administration of infliximab into the calcinosis lesions of patients with JDM could be a safe and effective treatment approach. TRIAL REGISTRATION: Name of the registry: The effect of infliximab injection into calcinosis lesions on patients with juvenile dermatomyositis (JDM), Trial registration number: IRCT20210808052107N1, Registration date: 2022-07-22, URL of trial registry record: https://en.irct.ir/trial/58329 .

Clinical Course, Therapeutic Management and Outcome of Coronavirus Disease in Patients With Inborn Errors of Immunity: A Retrospective Multicenter Experience From Iran.

BACKGROUND: Inborn errors of immunity (IEIs) are characterized by defects in the structure and function of the immune system. This study was designed to assess the impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection on this potentially particularly susceptible group of patients. METHODS: This retrospective cross-sectional study analyzed patients from 3 referral immunodeficiency centers in Iran. The demographic, clinical, laboratory and therapeutical data of confirmed IEI patients with SARS-CoV-2 infection were collected and analyzed. RESULTS: A total of 19 IEI patients, 52.6% male and 47.4% female, with coronavirus disease 2019 (COVID-19) were enrolled. The most common diagnosed IEIs were (severe) combined immunodeficiency ((S)CID) (9, 47.4%) and predominantly antibody deficiencies (7, 36.8%). The main presenting symptoms included fever (16, 84.2%), cough (12, 63.2%), dyspnea (9, 47.4%) and myalgia (8, 42.1%). Among additional preexisting comorbidities, atopy ( P = 0.087) and renal disorders ( P = 0.087) were more strongly associated with the development of respiratory failure, although not statistically significant. SARS-CoV-2 infection was determined by polymerase chain reaction (n = 19, 100%) within a median (interquartile range) of 1 (0-6) days following admission. Among all laboratory indices, thrombocytopenia ( P = 0.009) was associated with a need for intensive care unit admission. The overall mortality rate was 36.9% and highest among (S)CID patients (4, 44.4%). CONCLUSIONS: Severe COVID-19 most frequently affected (S)CID and predominantly antibody deficiencies patients among this multicenter Iranian cohort. Further studies are required to evaluate the impact of additional preexisting comorbidities and the development of thrombocytopenia on the severity and prognosis of COVID-19 in IEIs.

Immunodeficiency due to a novel variant in PIK3CD: a case report.

BACKGROUND: Primary immunodeficiencies are immunological disorders caused by gene mutations involved in immune system development and activation. Recently, activated phosphoinositide 3-kinase delta syndrome (APDS) due to mutations in the phosphoinositide 3-kinase (PI3K), phosphatidylinositol-4, 5-bisphosphate 3-kinase, catalytic subunit delta gene (PIK3CD), and phosphoinositide 3-kinase regulatory subunit 1 (PIK3R1) genes have been reported to induce a combined immunodeficiency syndrome leading to senescent T cells, lymphadenopathy, and immunodeficiency. The exact diagnosis of these deficiencies is essential for treatment and prognosis. In recent years, targeted treatment with selective PI3Kd inhibitors has had a significant effect on controlling the symptoms of these patients. CASE PRESENTATION: In this case report, we represent a 27-month-old girl with recurrent fever, an increased level of inflammatory markers, and erythema nodosum, who was referred to the rheumatology clinic. In the course of evaluations, because of the lack of clinical improvement with usual treatments, and a history of frequent respiratory infections, combined immunodeficiency was diagnosed in the immunological investigations. Moreover, whole-exome sequencing was performed for her. CONCLUSION: The genetic analysis found a novel variant of PIK3CD (c.1429 G > A) in the patient. Following daily antibiotic prophylaxis and monthly IV therapy, the patient's frequent infections and fevers were controlled.

Juvenile-onset systemic lupus erythematosus and MEFV polymorphism: A case–control association study among Iranian children / Lupus eritematoso sistémico de inicio juvenil y polimorfismo MEFV: un estudio de asociación de casos y controles entre niños iraníes

Introduction and objectives: This study is designed to evaluate the potential influences of Mediterranean fever gene (MEFV) gene polymorphism on systemic lupus erythematosus (SLE) in a cohort of juvenile patients. A case–control study was performed on Iranian patients with a mixed ethnicity population. Patients and methods: Genotypes of 50 juvenile cases, and 85 healthy controls were investigated for identifying M694V and R202Q polymorphism. Genotyping was done utilizing amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to detect M694V and R202Q mutations, respectively. Main findings: Our study indicates significant differences in the alleles and genotypes frequencies of MEFV polymorphism between SLE patients and healthy controls (P<0.05). Also, an association was found between renal involvement (50% vs. 8.3%, P=0.000, OR=0.91, 95% CI=0.30–0.278) in juvenile SLE patients and M694V polymorphism incident; But there was no association with other clinical manifestations. Principal conclusion: We found a significant association between R202Q and M694V polymorphism of the MEFV gene and susceptibility to SLE in the studied population; However, further studies on detailed characterization of these polymorphisms’ impacts on the key elements responsible for SLE pathogenesis is of great importance.(AU)

Introducción y objetivos: Este estudio está diseñado para evaluar las posibles influencias del polimorfismo del gen de la fiebre mediterránea (MEFV) en el lupus eritematoso sistémico (LES) en una cohorte de pacientes jóvenes. Se realizó un estudio de casos y controles en pacientes iraníes con una población de origen étnico mixto. Pacientes y métodos: Se investigaron los genotipos de 50 casos juveniles y 85 controles sanos para identificar el polimorfismo M694V y R202Q. El genotipado se realizó utilizando amplificación refractaria sistema de mutación-reacción en cadena de la polimerasa (ARMS-PCR) y reacción en cadena de la polimerasa-polimorfismo de longitud de fragmentos de restricción (PCR-RFLP) para detectar mutaciones M694V y R202Q, respectivamente. Hallazgos principales: Nuestro estudio indica diferencias significativas en las frecuencias de alelos y genotipos del polimorfismo MEFV entre pacientes con LES y controles sanos (p<0,05). Además, se encontró asociación entre compromiso renal (50% vs. 8.3%, p=0,000, OR=0.91, IC 95%=0,30–0,278) en pacientes con LES juvenil e incidente de polimorfismo M694V; pero no hubo asociación con otras manifestaciones clínicas. Conclusión principal: Encontramos una asociación significativa entre el polimorfismo R202Q y M694V del gen MEFV y la susceptibilidad a LES en la población estudiada; sin embargo, es de gran importancia realizar más estudios sobre la caracterización detallada de los impactos de estos polimorfismos en los elementos clave responsables de la patogénesis del LES.(AU)

Juvenile-onset systemic lupus erythematosus and MEFV polymorphism: A case-control association study among Iranian children.

INTRODUCTION AND OBJECTIVES: This study is designed to evaluate the potential influences of Mediterranean fever gene (MEFV) gene polymorphism on systemic lupus erythematosus (SLE) in a cohort of juvenile patients. A case-control study was performed on Iranian patients with a mixed ethnicity population. PATIENTS AND METHODS: Genotypes of 50 juvenile cases, and 85 healthy controls were investigated for identifying M694V and R202Q polymorphism. Genotyping was done utilizing amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to detect M694V and R202Q mutations, respectively. MAIN FINDINGS: Our study indicates significant differences in the alleles and genotypes frequencies of MEFV polymorphism between SLE patients and healthy controls (P<0.05). Also, an association was found between renal involvement (50% vs. 8.3%, P=0.000, OR=0.91, 95% CI=0.30-0.278) in juvenile SLE patients and M694V polymorphism incident; But there was no association with other clinical manifestations. PRINCIPAL CONCLUSION: We found a significant association between R202Q and M694V polymorphism of the MEFV gene and susceptibility to SLE in the studied population; However, further studies on detailed characterization of these polymorphisms' impacts on the key elements responsible for SLE pathogenesis is of great importance.

Association between forkhead box P3 expression level and gender of Iranian juvenile idiopathic arthritis patients.

Objectives: Juvenile idiopathic arthritis (JIA) is a childhood autoimmune rheumatoid disease. Past studies have confirmed that JIA is a complex disease, which means that genes and environmental factors affect the aetiology of the disease. In this study, we analysed the expression of interleukin 32, forkhead box P3 (FOXP3), methyl-CpG binding domain protein 1 (MBD1), and methyl-CpG-binding protein 2 (MECP2) in peripheral blood mononuclear cells of children with JIA in comparison with the expression of those in healthy children. Interleukin 32 is an inflammatory factor, FOXP3 is a transcription factor, and MBD1 and MECP2 are binding proteins that bind to the methylated deoxyribonucleic acid (DNA). Material and methods: We collected blood from JIA patients who had been diagnosed and classified into clinical subtypes by a rheumatologist from the division of paediatric rheumatology. Healthy children, whose clinical and preclinical analysis confirmed they had no disease and just came to the hospital for a check-up or minor surgical procedures were considered as a control group. Age and gender were matched in patients and the control group. Total ribonucleic acid was extracted from blood, and cDNA was synthesized. Eventually, the transcript levels were analysed by quantitative polymerase chain reaction, and statistical analysis was carried out. Results: Statistical analysis of gene expressions in young females affected by JIA demonstrated that MECP2 and FOXP3 were increased significantly (p-value = 0.002 and 0.05, respectively). Interleukin 32 gene expression was also increased (p-value = 0.14), whereas MBD1 gene expression was decreased (p-value = 0.06); however, these changes in the expression of all 4 genes were not significant in young males. Conclusions: Different expression levels of the mentioned genes between affected young females and males result from hormones in both gender and also methotrexate (MTX) drug. Also, the reason affected young females are more prone to JIA than males can be the lower level of FOXP3 expression in healthy females than healthy males.

Post SARS-CoV-2 infection reactive arthritis: a brief report of two pediatric cases.

BACKGROUND: Although, preliminary reports of Severe Acute Respiratory Syndrome (SARS)-CoV-2 infection suggest that the infection causes a less severe illness in children, there is now growing evidence of other rare or even serious complications of disease. CASE PRESENTATION: During the recent COVID-19 pandemic in Kerman, Iran, two children (an 8 year-old boy and a 6 year-old girl) were referred to outpatient Clinic of Pediatric Rheumatology with complaints of limping. Both children had experienced fever and mild respiratory tract infection. At the beginning of the second week of infection, they developed joint effusion. They both tested positive for coronavirus infection and were therefore diagnosed with post Coronavirus reactive arthritis. Both children were treated successfully with rest and Non-Steroidal Anti-Inflammatory Drugs (NSAID). They did not have any medical problems in the two months fallow up. CONCLUSIONS: These two cases suggest that COVID-19 may be rheumatogenic. Highlighting the need for awareness of physicians, especially pediatricians, regarding the pathogenesis margins of this virus, as late presentations are of great importance.

Pulmonary involvement in brucellosis: A case report and literature review.

Although pulmonary involvement is rare in brucellosis it should be considered as a causative agent in patients with prolonged fever and arthritis. Also, it should be presented with manifestations resembling systemic juvenile idiopathic arthritis.

Five-day fever: The main presentation of childhood-onset Takayasu arteritis.

In children with a nonspecific constitutional presentation such as prolonged fever, the physician should pay attention to primary vasculitides after ruling out the more common diseases such as infectious diseases, malignancies, and the other rheumatic disorders. The past history of autoimmunity may be a clue for this.

Pediatric Granulomatosis With Polyangiitis Mimicking IgA Vasculitis: A Case Report.

BACKGROUND: Granulomatosis with polyangiitis (GPA) is a systemic vasculitis of the upper and lower respiratory tract along with glomerulonephritis and is very rare in childhood. Its renal manifestations similarity with IgA vasculitis can be misleading. CASE PRESENTATION: Herein, we report a 12-years-old girl with the clinical picture of IgA vasculitis and renal involvement at the time of presentation, over time, elevated cytoplasmic Anti-neutrophil Cytoplasmic Antibody (C-ANCA) and tissue biopsy confirmed GPA. CONCLUSION: In the case of a patient with an unusual presentation of IgA vasculitis, to some degree of suspicion, the GPA should be considered. Also, in approach to non-thrombocytopenic palpable petechia and purpura a wide range of differential diagnosis such as infections, ANCA associated vasculitis, and secondary vasculitis should be considered. Therefore, 2 effective method of GPA diagnosis, the high titer of C-ANCA test and tissue biopsy, should be considered simultaneously.

Determination of the Relationship Between Kobayashi, Sano, and Egami Criteria and Prevalence of Intravenous Immunoglobulin Resistance and Coronary Artery Aneurysm in Iranian Children with Kawasaki Disease.

INTRODUCTION: Kawasaki disease (KD) is a systemic vasculitis that occurs mostly in children under five years old. Kawasaki affects the middle-size arteries, especially the coronary arteries. Therefore, without adequate treatment, it may cause coronary artery aneurysm in 25% of patients. The purpose of this study was to investigate the relationship between Kobayashi, Sano, and Egami criterions with coronary artery aneurysm in KD patients during the last ten years and to identify risk factors in patients with intravenous immunoglobulin (IVIG)-resistant and coronary artery aneurysms. METHODOLOGY: Medical records of 363 Kawasaki patients referred during 2008-2017 were reviewed. Patients' demographic data and Kobayashi, Sano, and Egami scores of each patient were calculated. Based on echocardiographic findings, cases of coronary artery aneurysm were determined. Sensitivity, specificity, positive and negative predictive value, and the accuracy of each criterion were determined to predicting IVIG resistance and detect coronary artery aneurysm. RESULTS: There was a slight relationship between IVIG-resistance in Kawasaki children and its prediction based on the Kobayashi risk score, but no relationship was found between the Egami and Sano criteria. Sixty-three patients (17.4%) had coronary artery lesions (CALs) on time of diagnosis. There were no statistically significant differences between gender and mean age of children with and without CALs. Also, there was no significant relationship between coronary artery aneurysm in Kawasaki children and its prediction based on the above three risk factors. The area under the ROC-curve of all three risk measures of Kobayashi, Egami, and Sano indicated that all three criteria were not useful in predicting CALs. CONCLUSION: Despite the low accuracy of the three above criteria to predictive of patients with IVIG resistance, it seems that the variables of age, duration of fever, and C-reactive protein (CRP) are more useful than other variables and may be utilized to evaluate patients by establishing a more appropriate cut-off point.

A dermatopathic Juvenile Dermatomyositis; An Unexpected Case in Childhood.

Juvenile dermatomyositis (JDM) is a rare idiopathic inflammatory disease, which usually presents with skin rashes along with muscle weakness. We report a case of JDM in a 10- year-old girl with no skin manifestations presenting with progressive muscle weakness and fatigue. Further laboratory investigations, along with a muscle biopsy, confirmed the diagnosis of adermatopathic JDM. The patient was treated with intravenous immunoglobulin, corticosteroids, methotrexate, hydroxychloroquine, pamidronate, and rituximab. Following treatment, patients' symptoms subsided, and she gained normal muscular strength over a year.

Recurrent angioedema, Guillain-Barré, and myelitis in a girl with systemic lupus erythematosus and CD59 deficiency syndrome.

BACKGROUND: CD59 deficiency is a congenital mutation disorder in complement pathway which can present with various manifestations. CASE PRESENTATION: Herein, we presented an adolescent 16-years-old girl with recurrent attacks of Guillain-Barre in early childhood and then recurrent attacks of angioedema, paresthesia, and myelitis. Finally, she presented with quadriplegia, malar rash, proteinuria, lymphopenia, and high titer of antinuclear antibody. So, the patient developed systemic lupus erythematosus. Furthermore, we performed whole exome sequencing which revealed homozygote mutations in CD59 for the patient and heterozygote one for her parents. CD flow cytometry showed less than 1 percent expression of CD59 on the surface of the patient's peripheral blood cells confirming the disorder. So, she had CD59 deficiency. The patient's episodes were managed with plasma exchanges, corticosteroids, Cyclophosphamide, and Mycophenolate Mofetil which induced and maintained remission. CONCLUSION: CD59 deficiency can be presented with various clinical features such as neurologic, hematologic, dermatologic, and rheumatologic problems including systemic lupus erythematosus.

Prevalence of generalized joint hypermobility in children with anxiety disorders.

BACKGROUND: Concerning the high prevalence of anxiety disorders and joint hypermobility in children and the lack of related studies in this age group, we aimed to assess the association of hypermobility with anxiety disorders in children. METHODS: In this case-control study, 93 children ages 8-15 years with anxiety disorders referring to the Child and Adolescent Psychiatry Clinic of Mofid Children's Hospital, Tehran, Iran, during 2018, were enrolled. The control group consisted of 100 age and sex-matched children without anxiety disorders. Anxiety was evaluated using the Spence Children Anxiety Scale (SCAS). The diagnosis of generalized joint hypermobility was done based on Beighton and Shiari-Javadi criteria. RESULTS: Based on Beighton's diagnostic criteria 52.7% of the children in the case group and 16% of the children in the control group had generalized joint hypermobility. Moreover, based on Shiari-Javadi criteria, 49.5 and 13% of the children in the case and control groups had generalized joint hypermobility, respectively. Moreover, the internal correlation between the two criteria was 0.91 showing almost complete compatibility between the two (P <  0.001). Age was a risk factor that could predict hypermobility in these children. Other variables such as sex, severity, and type of anxiety disorders, and ADHD, were not predictors of hypermobility syndrome. CONCLUSION: The prevalence of hypermobility was three times higher in children with anxiety disorders and only age was a predictor for the possibility to suffer from generalized joint hypermobility in these children.