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Key Clinical Message: Systemic Lupus Erythematosus (SLE) can have an insidious onset and a fatal prognosis in children. Patients presenting without typical signs of SLE should undergo further evaluation if they are not responding to the initial diagnosis and treatment. This is especially true for patients with rapidly progressing symptoms and deterioration in spite of treatment. Pediatric Systemic Lupus Erythematosus is a chronic autoimmune disorder with various organ involvement pulmonary involvement in the course of this disorder is a rare yet potentially life‐threatening complication. In this case report we highlight the findings of a 16‐year‐old girl acutely and initially presenting with cough and fever, eventually complicating to diffuse alveolar hemorrhage and gradual loss of consciousness. Although the patient was started on immunosuppressive treatment after the diagnosis of lupus, based on renal and hematological impairment, was made and initially responded, she eventually deteriorated. [ABSTRACT FROM AUTHOR]

Background: Familial Mediterranean fever (FMF) is an autosomal recessive disorder caused by a mutation in the MEFV gene and characterized by recurrent episodes of fever and polyserositis. Objectives: This study aimed to identify the frequency and distribution of MEFV mutations in children with FMF in northeastern Iran and determine clinical examinations. Methods: Our study was a descriptive and analytical cross-sectional study conducted among 29 patients under the age of 18 who visited the pediatric rheumatologist between April 2014 and 2021. After clinical diagnosis, the patients underwent genetic evaluation. The mutations related to each patient were identified using Sanger sequencing of the entire MEFV gene sequence. The rest of the information was extracted from the checklist. Finally, the data were analyzed using SPSS v. 16. Results: Fever was the most common symptom, followed by abdominal pain. During the acute attack period, laboratory inflammatory factors increased in all patients. None of the patients had complications. There was no significant relationship between the demographic variables in the groups (benign, variant of uncertain significance [VUS], pathogen) except for the rate of hospitalization (P-value = 0.039). Moreover, 34.5% of the studied patients had pathogenic mutations. The most common mutation was E148Q, which was reported to be benign, followed by pathogenic mutations (M680I), with a frequency of 10.2%. Conclusions: The FMF is rare in Northeastern Iran, and the number of pathogenic mutations is lower compared to Northwest Iran and other studies. It is necessary to conduct a genetic examination and treatment of affected patients to control the course of the disease and its complications. [ABSTRACT FROM AUTHOR]

Introduction: Between 50-75% of children and adolescents with systemic lupus erythematosus (SLE) experience kidney involvement within the first year of diagnosis. The gold standard for diagnosing renal involvement in SLE is a renal biopsy. It is uncommon for SLE to cause isolated tubular involvement without any glomerular disease. Case Presentation: We report an adolescent girl with a known history of systemic lupus erythematosus who presented to the emergency department with progressively worsening weakness. The diagnosis revealed that she had distal renal tubular acidosis (RTA) without any glomerular disease. Her history of nephrocalcinosis and kidney stones on renal ultrasound is most consistent with distal renal tubular acidosis diagnosis. Conclusion: This case highlights the importance of considering renal tubular acidosis lupus patients who experience recurrent hypokalemic episodes. When a patient presents with a normal anion gap metabolic acidosis and hyperchloremia, without evidence of gastrointestinal HCO3 loss or absorption of exogenous acid, renal tubular acidosis (RTA) should be considered. [ABSTRACT FROM AUTHOR]

Background: The most common cause of coronary artery aneurysms in children is Kawasaki disease (KD). One of the risk ratings used to predict coronary artery aneurysms is the Harada score. This study aims to assess the negative predictive value (NPV) of Harada scoring in children with KD. Methods: This cross-sectional study was conducted in Mashhad (Iran) from January 2014 to December 2017. The Harada score was generated for each patient using demographic, laboratory, and echocardiography data retrieved from their medical records. The patients were divided into typical and atypical cases, and the sensitivity, specificity, positive predictive value (PPV), and NPV were calculated. The Chi square test, independent t test, Mann--Whitney U test, and Fisher exact test were used to analyze the data in SPSS software (version 23.0). P≤0.05 was considered statistically significant. Results: The study involved 168 individuals with a mean age of 29.91±19.52 months, including 103 typical and 65 atypical cases. Regarding cardiac complications, the atypical group had a significantly greater rate of coronary artery tapering (P=0.030). Out of 101 patients with cardiac complications, the Harada score was positive in 57 cases, while it was falsely negative in the remaining 44 patients. The calculated sensitivity, specificity, PPV, and NPV were 56.44%, 53.73%, 64.77%, and 45%, respectively. Conclusion: The findings revealed that the Harada scoring is ineffective in detecting coronary artery aneurysms or dilation in KD patients. [ABSTRACT FROM AUTHOR]

Erythema nodosum (EN) is a condition in which the skin suffers from oval-shaped and tender erythematous patches, mostly on the anterior region of the leg and sometimes other parts of the body, including the arms and affects subcutaneous adipose tissue. These patches are self-limiting and usually heal on their own within one to two weeks. This is a case report of a patient who is a 14-year-old boy complained of ovalshaped tender erythematous lesions on the legs of both legs and referred and was hospitalized 5 days ago. The patient continued to complain of pain in both thighs when standing and sitting. The patient developed a high fever upon admission. There was no history of the disease while we were taking his history. All laboratory tests were performed and rheumatic diseases and possible malignancies were evaluated and rejected. The patient was treated with the anti-naproxen, an inflammatory drug, and then the patient's pain and fever decreased. However, the patient suffered from multiple ulcerative lesions in the mouth on the final day of hospitalization. Infectious counseling was performed and he was discharged with a diagnosis of EN in the context of oral herpes. Two days after discharge, the patient suffered from hematochezia. Consequently, he was hospitalized and underwent colonoscopy, which showed multiple mucosal lesions in the esophagus and duodenum, and a sample was sent for pathology. The test result showed Crohn's disease, and the patient was treated immediately. [ABSTRACT FROM AUTHOR]

The B lymphocyte developmental blocks agammaglobulinemia, leading to peripheral B cell depletion and plasma immunoglobulin reduction. Agammaglobulinemia is a rare yet severe disease since it is presented with recurrent sinopulmonary and skin, central nervous system, bone, and joint infections. The onset of the disease is reported to be at the age of six months. Associations have been reported between arthritis and immunodeficiency disorders, such as agammaglobulinemia and common variable immunodeficiency (CVID). This study aimed to present the case of a 3.5-year-old female with a three-month history of the swelling of the left knee, mimicking oligoarticular juvenile idiopathic arthritis. After the initiation of immunosuppressive treatment, the patient developed large, tender, erythematous lesions on the inguinal region bilaterally, which developed to ecthyma gangrenosum due to Pseudomonas. The patient's mother also reported recurrent episodes of infections since the patient was a one-year-old infant. Subsequent to the immunological examinations and laboratory tests, the patient was diagnosed with autosomal recessive agammaglobulinemia due to low serum immunoglobulin concentration and the absence of peripheral B cells. Primary immunodeficiency conditions (particularly agammaglobulinemia) and CVID should be considered in children with arthritis and recurrent infections. Moreover, immunological analysis should be performed prior to treatment in these children. [ABSTRACT FROM AUTHOR]

Objective(s): Juvenile idiopathic arthritis (JIA) is one of the most common chronic rheumatic diseases in children. The complex nature of this immune-mediated disease owes itself to several predisposing genes and environmental factors affecting its pathogenesis. Conducted in Iran, this study was originally intended to investigate every possible association between HLA DRB1 alleles and a susceptibility to JIA. Materials and Methods: In this case-control study, 45 patients with a definite diagnosis of JIA based on International League against Rheumatism (ILAR) criteria were compared against 46 healthy controls. DNA samples taken from both groups were analyzed using PCR-sequence specific primers (PCR-SSP) method. Data analysis including parametric and nonparametric test and multivariate analysis was undertaken using the SPSS 11.5 software. A P-value< 0.05 was regarded as statistically significant. Results: Mean ages in case group and healthy controls were 14.64±6.21 and 13.73±6.39, respectively with no significant difference between the two groups (P=0.515). Sex difference between JIA group and healthy controls was also not significant (P=0.068) .The frequency of HLA-DRB1*01 was found the most frequent HLA-RB1 in our patients (33.3%). No significant statistical correlation between various HLA-DRB1 alleles and clinical subtypes of the disease could be established from the data. HLA-DRB1*11 was shown to raise protection to JIA (P=0.035, OR=2.755, 95% CI=0.963-8.055) in northeastern Iran. In addition, we found that HLA-RB1*09 is nominally associated with an increased risk of JIA (P=0.56, OR=2, 05, 95% CI=0.18-23.63). Conclusion: HLA-DRB1*11 was shown to raise protection to JIA in northeastern Iran. The disparity of findings in other ethnicities prompts further investigations with larger sample sizes. [ABSTRACT FROM AUTHOR]

Churg-Strauss syndrome (CSS) is a type of vasculitis of small-to-medium sized vessels. This syndrome is known by a history of bronchial asthma with systemic necrotizing vasculitis and peripheral blood hypereosinophilia. It is currently called eosinophilic granulomatosis with polyangiitis (EGPA). This disease affects both genders and all age groups, but it is very rare among children. CSS diagnosis is based on clinical findings such as asthma, eosinophilia, rhinosinusitis, and signs of vasculitis in major organs. In cases where steroids alone or in combination with other immunosuppressive agents are used as treatment, the outcome and long-term survival are usually satisfying. In comparison with other types of systemic vasculitis, the mortality rate of this syndrome is low. In this study, we present the case of a 7-yearold boy with poorly controlled bronchial asthma since three years of age. This case had developed purpuric skin lesions, sinusitis, arthritis, and weakness of the limbs with symptoms of mononeuritis multiplex at the age of seven. After being admitted to our hospital, a series of studies, including complete blood count-diff, chest X-ray, paranasal sinus radiography, brain magnetic resonance imaging, nerve conduction study, spirometry, and serological tests for autoantibodies, were performed and he was diagnosed with CSS. Thereafter, he received regular corticosteroid therapy in combination with methotrexate, and his symptoms were generally well-controlled with the beginning of the treatment. The clinical characteristics, diagnosis, and management of CSS in children are also reviewed in this study. [ABSTRACT FROM AUTHOR]

Background: A common type of chronic arthritis in children and adolescents is juvenile idiopathic arthritis (JIA). According to the International League of Associations for Rheumatology (ILAR) classification, JIA diagnostic criteria include age under 16 years and disease duration of six-weeks. Based on the number of involved joints in the first sixmonths of disease onset, JIA is categorized into oligoarticular or polyarticular subtypes. Age is a characteristic factor in the diagnosis of disease subsets; it is worth mentioning that cases younger than six months of age are seldom found in any of the subtypes. Case report: In this report, we present a rare case of JIA in an infant, presenting at 20 days of age. Effusion of the right hip joint was one of the primary manifestations of the disease. During hospitalization, she went through sepsis workup and a four-week antibiotic therapy for management of lower limb pseudoparalysis. In spite of antibiotic therapy, she developed effusion of a second joint. According to the course and duration of symptoms and ILAR classification for JIA, oligoarticular JIA was diagnosed and treated. Conclusion: In this case, infectious diseases, such as tuberculosis and brucellosis, and malignancies were ruled out as a cause of inflammation through bone marrow aspiration, culture, and tests; ultrasound and magnetic resonance imaging showed no lytic and sclerotic lesions or a fracture. Our experience showed a rare case of JIA and suggested that JIA must be considered in children with joint inflammation at any age. [ABSTRACT FROM AUTHOR]

Thumb hypoplasia only in the intrinsic thenar muscles is a rare condition; this defect might be accompanied with cardiac diseases (Holt-Oram syndrome), ocular anomalies, and vascular anomalies of the hand and wrist (Okihiro syndrome). In addition, this condition may be detected in hypereosinophilic syndrome (HES), which gives rise to other hand anomalies, as well. Unilateral or bilateral absence of isolated thenar muscles is another rare abnormality. In this study, we presented a case of Cavanagh's syndrome in an eight-year-old boy with right-sided thenar hypoplasia who had difficulty in thumb opposition. For the treatment, the patient underwent abductor digiti minimi (ADM) opponensplasty. After three years of follow-up, he regained thumb opposition and was symptom-free. Care must be taken to avoid misdiagnosis of thenar atrophy/hypoplasia with carpal tunnel syndrome in case of children. [ABSTRACT FROM AUTHOR]

Background: Juvenile Rheumatoid Arthritis (JRA) is the most common chronic pediatric rheumatologic disease. There is a wide range of variation in disease subgroup distribution and evolution according to different populations, environments and genetic predisposition. This study was designed to evaluate epidemiologic characteristics of JRA in Iran. Methods: A cross-sectional studies was performed on children suffering from JRA according to American College of Rheumatology during 10 year (2002-2011). Patients' data was recorded in hospital questionnaires; Patients' age at the first presentation and time of diagnosis, sex, ethnicity, early clinical and constitutional presentations, joint involvement pattern and presence of associated diseases were evaluated. Results: In this study, 171 children (91 boys and 80 girls) were enrolled. The mean age of patients was 5.2±3.5 years at the time of presentation and 5.7±3.6 years when the diagnosis was confirmed. The most common type of disease was polyarticular arthritis (41.9%). The prevalence of pauciarticular and systemic onset subtype were 31.6% and 19.3%, respectively. According to ethnicity, the most common incidence was seen in Fars and Turk populations respectively. The most common constitutional presentation was fever. Fever and morning stiffness was significantly higher in polyarticular patients. Extra articular manifestation was seen in 40.4% patients. Among extra-articular manifestations, skin involvement was seen more than others. There was no correlation between sex and type of chronic arthritis. Uveitis was detected in 5.8% of our cases. The mean age was significantly higher in polyarticular group (6.04 year) in comparison to pauciarticular and systemic group (4.4 year in both groups) (P=0.005). There was no correlation between sex and type of chronic arthritis. Conclusion: The prevalence of JRA subgroups was different in Iran comparing with western countries and polyarticular disease was the most common subgroup in this study. Uveitis was less common in this study in comparison to studies in other countries. There is no sex predilection in each subgroup of JRA. [ABSTRACT FROM AUTHOR]

Objective: Air leak syndromes including pneumothorax, pneumomediastinum and pulmonary interstitial emphysema are frequent in neonatal period. Mechanical ventilation with positive pressure is one of the most common causes of these syndromes. The aim of this study was to evaluate predisposing factors and incidence of pneumothorax in newborns under mechanical ventilation. Methods: This descriptive cross sectional study was performed in 400 newborns under mechanical ventilation in intensive care unit of a teaching hospital in Iran from April 2004 to December 2008. Predisposing factors leading to ventilation and incidence of air leak syndromes were studied. Sex, gestational age, birth weight, type of delivery, history of surfactant replacement therapy, ventilator settings and mortality rate were recorded. Statistical analysis was done using SPSS software. Univariate analysis and regression analysis were considered. Findings: Among 400 patients under mechanical ventilation, 102 neonates developed pneumothorax (26%). Fifty six (54.9%) of them were boys and 46 (45.1%) girls. 54.9% of newborns with pneumothorax were preterm and 45.1% term. Birth weight less than 2500g was recorded in 59.8%. Fifty two percent of these neonates were born by cesarean section vs. 32% of newborns without pneumothorax. The most common type (62.7%) of ventilation leading to pneumothorax was InspiratoryPositive Pressure Ventilation (IPPV). Surfactant replacement: therapy was recorded In 32^^W cases with pneumothorax compared to 60.4% irfneonatos under ventilation without pneumothorax, which was significantly different (P= 0.017). Conclusion: In newborns surfactant replacement therapy can reduce the risk of pneumothorax caused by mechanical ventilatiö|t. [ABSTRACT FROM AUTHOR]