Turkish Journal of Pediatrics最新文献

Background: Antiphospholipid syndrome (APS), particularly the catastrophic antiphospholipid syndrome (CAPS), is one of the rare causes of thrombotic microangiopathy (TMA). CAPS is the most severe form of APS, especially when accompanied by complement dysregulation, causes progressive microvascular thrombosis and failure in multiple organs. In this report, a case of CAPS with TMA accompanied by a genetic defect in the complement system is presented.

Case: A 13-year-old girl was admitted to the hospital with oliguric acute kidney injury, nephrotic range proteinuria, Coombs positive hemolysis, refractory thrombocytopenia, a low serum complement C3 level and anti-nuclear antibody (ANA) positivity. The kidney biopsy was consistent with TMA. She was first diagnosed with primary APS with clinical and pathological findings and double antibody positivity. As initial treatments, plasmapheresis (PE) was performed and eculizumab was also administered following pulsesteroid and intravenous immunoglobulin treatments. Her renal functions recovered and she was followed up with mycophenolate mofetil, hydroxychloroquine, low dose prednisolone and low molecular weight heparin treatments. The patient presented with severe chest pain, vomiting and acute deterioration of renal functions a few months after the diagnosis of TMA. A CAPS attack was considered due to radiological findings consistent with multiple organ thrombosis and intravenous cyclophosphamide (CYC) was given subsequent to PE. After pulse CYC and PE treatments, her renal functions recovered, she is still being followed for stage-3 chronic kidney disease. Complement factor H-related protein I gene deletion was detected in the genetic study.

Conclusions: The clinical course of complement mediated CAPS tends to be worse. Complement system dysregulation should be investigated in all CAPS patients, and eculizumab treatment should be kept in mind if detected.

Background: A magnetic ball is a toy for children that can cause physical injury when used improperly. The injury of urethra and bladder caused by magnetic ball is rarely reported.

Case: Here we present a case of self-inflicted intravesical insertion of 83 magnetic balls by a 10-year-old boy. Preliminary diagnosis was made by a plain radiograph of the pelvis and ultrasonic examination of bladder and all the magnetic balls were removed under cystoscopy successfully.

Conclusions: For children with recurrent bladder irritation, the possibility of bladder foreign body should be considered. Surgery is an effective method. For patients without serious complications, cystoscopy is the gold standard for diagnosis and treatment.

Background: Emphysematous cystitis (EC) and emphysematous pyelonephritis (EPN) are rare urinary tract infections. They have a wide spectrum of clinical manifestations; ranging from asymptomatic to septic shock at presentation. In children, EC and EPN are rare complications of urinary tract infections (UTIs). Their diagnosis is based on clinical manifestations, laboratory results and characteristic radiological findings of gas within the collecting system, renal parenchyma and/or perinephric tissue. Computed tomography is the best radiological option in the diagnosis of EC and EPN. Despite the availability of various treatment modalities including medical and/or surgical treatment alternatives, these life-threatening conditions have high mortality rates reaching up to 70 percent.

Case: Urinary tract infection was detected in the examinations of an 11-year-old female patient suffering from lower abdominal pain, vomiting and dysuria for two days. Air was detected in the bladder wall on X-ray. EC was detected in the abdominal ultrasonography. Air formations in the bladder lumen and calyces of both kidneys in abdominal computed tomography confirmed the presence of EPN.

Conclusions: Individualized treatment should be instituted according to the severity of EC and EPN, and the overall health condition of the patient.

Background: Early diagnosis and effective treatment serve as life-saving procedures for primary immunodeficiencies (PIDs) which are very common and a major public health problem in Turkey. Severe combined immunodeficiency (SCID) is constitutively a T-cell defect in which naïve T-cell development is defective due to the mutations in genes responsible for the T cell differentiation and insufficient thymopoiesis. So, assessment of thymopoiesis is very important in the diagnosis of SCID and several combined immune deficiencies (CIDs).

Methods: The purpose of this study is to examine thymopoiesis in healthy children via measurement of recent thymic emigrants (RTE); T lymphocytes that express CD4, CD45RA and CD31 to establish the RTE reference values in Turkish children. RTE were measured in the peripheral blood (PB) of 120 healthy infants and children between 0-6 years including cord blood samples, by flow cytometry.

Results: The absolute count of RTE cells and their relative ratios were found to be higher during the first year of life, being highest at the 6th month and tending to decrease significantly by age following birth (p=0.001). In the cord blood group, both values were lower than those in the 6-month-old group. The absolute lymphocyte count (ALC) varying by age, was found to reduce to 1850/mm³ in 4-years and after.

Conclusions: Here we evaluated normal thymopoiesis and established the normal reference levels of RTE cells in the peripheral blood of healthy children aged between 0-6 years. We believe that the collected data will contribute to early diagnosis and monitoring of immune reconstitution; serving as an additional fast and reliable marker for many PID patients especially for SCID including many other CIDs, especially in nations where newborn screening (NBS) via T cell receptor excision circles (TREC) has not yet become available.

Background: Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent infections of the skin, nail, oral, and genital mucosa with Candida species, mainly Candida albicans. In a single patient, the first genetic etiology of isolated CMC autosomal recessive interleukin-17 receptor A (IL-17RA) deficiency was reported in 2011.

Case: We report four patients with CMC who displayed autosomal recessive IL-17RA deficiency. The patients were from the same family, and their ages were 11, 13, 36, and 37 years. They all had their first CMC episode by six months of age. All patients manifested staphylococcal skin disease. We documented high IgG levels in the patients. In addition, we found the coexistence of hiatal hernia, hyperthyroidism, and asthma in our patients.

Conclusions: Recent studies have provided new information on the heredity, clinical course, and prognosis of IL-17RA deficiency. However, further studies are needed to reveal the full picture of this congenital disorder.

Background: Osteosarcoma is the most common type of primary malignant bone tumor in the extremities. The main purpose of this study was to determine clinical features, prognostic factors, and treatment results of patients with osteosarcoma at our center.

Methods: We retrospectively analyzed the medical records of children with osteosarcoma between the years 1994-2020.

Results: 79 patients were identified (54.4% male, 45.6% female). The most common primary site was the femur (62%). Twenty-six of them (32.9%) had lung metastasis at diagnosis. The patients were treated between 1995- 2013 according to the Mayo Pilot II Study protocol, while the others were treated with the EURAMOS protocol between the years 2013-2020. Sixty-nine patients underwent limb salvage surgery as a local treatment, whereas seven underwent amputation. The median follow-up time was 53 months (2.5-265 months). The event-free survival (EFS) and overall survival (OS) rates at 5 years were 52.1% and 61.5%. The 5-year EFS and OS rates were 69.4% and 80% in females; 37.1% and 45.5% in males (p=0.008/p=0.001). The 5-year EFS and OS rates of the patients without metastasis were 63.2% and 66.3%; with metastasis 28.8% and 51.8% (p=0.002/p=0.05). For good-responders, the 5-year EFS and OS rates were 80.2% and 89.1%; while for poor-responders, 35% and 46.7% (p=0.001). Mifamurtide was used in addition to chemotherapy as of the year 2016 (n=16). The 5-year EFS and OS rates were 78.8% and 91.7%, respectively for the mifamurtide group; 55.1% and 45.9%, respectively for the non-mifamurtide group (p=0.015, p=0.027).

Conclusions: Metastasis at diagnosis and poor response to preoperative chemotherapy were the most important predictors of survival. Females had a better outcome than males. In our study group, the mifamurtide group`s survival rates were significantly higher. Further large studies are needed to validate the efficacy of mifamurtide.

Background: Atypical hemolytic uremic syndrome (aHUS) is a rare and severe disease characterized by uncontrolled activation and dysregulation of the alternative complement pathway and development of thrombotic microangiopathy. Eculizumab, which is used as a first-line therapy in aHUS, blocks the formation of C5 convertase and inhibits the formation of the terminal membrane attack complex. It is known that treatment with eculizumab increases the risk of meningococcal disease by 1000-2000-fold. Meningococcal vaccines should be administered to all eculizumab recipients.

Case: We describe a girl with aHUS who was receiving eculizumab treatment and experienced meningococcemia with non-groupable meningococcal strains which rarely cause disease in healthy people. She recovered with antibiotic treatment and we discontinued eculizumab.

Conclusions: In this case report and review, we discussed similar pediatric case reports in terms of meningococcal serotypes, vaccination history, antibiotic prophylaxis and prognosis of patients who experienced meningococcemia under eculizumab treatment. This case report highlights the importance of a high index of suspicion for invasive meningococcal disease.

Background: Juvenile idiopathic arthritis (JIA) is a rheumatic disease that may be associated with ocular involvement in childhood. Classical findings of JIA uveitis are cells and flare; hyphema, bleeding in the anterior chamber of the eye, is a rare finding.

Case: An 8-year-old girl presented with 3+ cells and a flare in the anterior chamber. Topical corticosteroids were started. A follow-up examination 2 days later revealed hyphema in the affected eye. There was no history of trauma or drug use, and the laboratory test results did not suggest any hematological disease. Systemic evaluation resulted in the diagnosis of JIA by the rheumatology department. The findings regressed with systemic and topical treatment.

Conclusions: The most common cause of hyphema in childhood is trauma, but it can rarely be seen with anterior uveitis. This case highlights the importance of recognizing JIA-related uveitis in the differential diagnosis of hyphema in childhood.

Background: Myasthenia gravis is a chronic, autoimmune disease with muscle weakness. Acetylcholinesterase inhibitors are used in the symptomatic treatment of the disease. Allergic reaction to pyridostigmine bromide is rare. In the literature, no allergic reaction to pyridostigmine bromide has been reported in the pediatric population.

Case: A 12-year-old female patient diagnosed with myasthenia gravis consulted our clinic with the complaint of urticaria due to pyridostigmine bromide. The oral challenge test performed with pyridostigmine bromide was positive. As the patient was required to be continue pyridostigmine bromide with no suitable alternatives, it was decided that the patient had to be desensitized to pyridostigmine. During and after the desensitization protocol, no reaction was observed.

Conclusions: In this report, a successful desensitization protocol for pyridostigmine bromide in a child with myasthenia gravis is discussed.

Background: Vaccinating adolescents and determining the factors influencing their vaccination status are critical in the event of a pandemic. One of the factors affecting vaccination is vaccine hesitancy, which is an increasing problem worldwide. Vaccine hesitancy and the vaccination rates of some special groups, such as psychiatric patients and their families, may differ from the general population. The purpose of this study was to identify any vaccine hesitancy to the coronavirus disease 2019 (COVID-19) vaccination in adolescents evaluated in a child psychiatry outpatient clinic, as well as to determine the factors influencing vaccination in these adolescents and their families.

Methods: Two hundred forty-eight adolescents examined in the child psychiatry outpatient clinic were evaluated using a semi-structured psychiatric interview, strengths and difficulties questionnaire (SDQ), the fear of COVID-19 scale, and a form about coronavirus vaccine hesitancy. The parents completed the vaccine hesitancy scale and answered the vaccine hesitancy questions.

Results: The vaccination rate was higher in patients with anxiety disorders. The patient`s age (odds ratio [OR]:1.59; 95% confidence interval [CI]:1.26, 2.02), the parent`s vaccine hesitancy (OR: 0.91; CI:0.87-0.95), the status of chronic disease in a family member (OR: 2.26; CI:1.10, 4.65), and the vaccination status of the adolescent`s parents (OR:7.40; CI:1.39, 39.34) were found to be predictive for adolescent vaccination. While 2.8% of the adolescents said that they were definitely against getting vaccinated, 7.7% were undecided. While the rate of undecided parents was 7.3%, those who were against vaccination was 1.6%.

Conclusions: Age, parental vaccine hesitancy, and parental vaccination status can affect the vaccination of adolescents admitted to a child psychiatry clinic. Recognizing vaccine hesitancy in adolescents admitted to a child psychiatry clinic and in their families is beneficial for public health.