The Turkish journal of pediatrics最新文献

Classical clinical triad of hemolytic uremic syndrome (HUS) is microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury associated with endothelial cell injury. Several situations, including infections, medications, malignancies, and transplantation can trigger endothelial damage. On the HUS spectrum, atypical hemolytic uremic syndrome (aHUS) deserves special attention in pediatric patients, as it can cause endstage kidney disease and mortality. A dysfunction in the alternative complement pathway, either acquired or genetic, has been shown to be the main underlying cause. In the last decades, breathtaking advances have been made in understanding the pathophysiology of this rare disease, which has led to more efficient treatment. Recent studies have implicated genes in pathways beyond the alternative complement system, such as DGKE, TSEN2, and INF2 highlighting the importance of personalized management. Eculizumab has brought about dramatic improvements in the treatment of aHUS. Beyond eculizumab, there are many alternative therapeutics in the pipeline that target the complement system. Because of the rarity of aHUS, data from multiple patient registries are very important. The present report aimed to summarize the most important aspects of diagnosing and treating aHUS based on the Turkish national registry and the literature so as to improve clinical practice.

Background: Takayasu arteritis (TA) is an uncommon chronic inflammatory and autoimmune disease primarily affecting large vessels, particularly the aorta and its branches. Skin manifestations have been documented in association with TA. Pyoderma gangrenosum (PG) is a chronic neutrophilic dermatosis characterized by destructive, necrotizing, and painful ulcers, predominantly found on the lower extremities. The coexistence of PG and TA is extremely rare, with most reported cases involving adult patients. Interestingly, the association between PG and TA appears to be more common in Japan compared to North American and European populations. Childhood TA (c-TA) accompanied by PG is exceptionally rare, with only 10 cases reported in the literature thus far.

Case report: We present the case of a 7-month-old patient initially diagnosed with PG. Despite aggressive immunosuppressive therapy, the patient`s high acute phase reactants remained elevated. Although the abdominal ultrasound was normal, advanced imaging was performed due to severe abdominal pain. Contrastenhanced computerized tomography angiography of the aorta and its branches revealed extensive vascular involvement consistent with TA.

Conclusion: In this report, we highlight an infantile case of PG that was subsequently diagnosed as infantile TA. Recognizing the rare association between PG and TA is important. Thorough evaluation and prompt diagnosis of TA in infants with PG can guide further investigations and prevent vascular complications.

Background: The aim of the study was to evaluate the approaches of pediatric rheumatologists and pediatric hematologists to patients with similar musculoskeletal (MSK) complaints and to highlight the differences that general pediatricians should consider when referring patients to these specialties.

Methods: This is a cross-sectional study involving the patients who applied to pediatric rheumatology centers with MSK complaints and were diagnosed with malignancy, as well as patients who were followed up in pediatric hematology centers with a malignancy diagnosis, and had MSK complaints at the time of admission.

Results: A total of 142 patients were enrolled in the study. Of these patients, 83 (58.4%) applied to pediatric rheumatology centers, and 59 (41.6%) applied to pediatric hematology centers. Acute lymphoblastic leukemia (ALL) was the most common diagnosis among the patients who applied to both centers, with 80 cases (56.3%). The median age of diagnosis was 87 (interquartile range, IQR: 48-140) months. The most common preliminary diagnosis in pediatric rheumatology centers was juvenile idiopathic arthritis (JIA), with 37 cases (44.5%). MSK involvement was mainly seen as arthralgia, and bone pain. While arthralgia (92.7%) was the most common complaint in rheumatology centers, bone pain (88.1%) was more common in hematology centers. The most frequently involved joints were the knee (62.9%), ankle (25.9%), hip (25%), and wrist (14%). The most common laboratory abnormalities were high lactate dehydrogenase (LDH), high C-reactive protein (CRP), anemia, and high erythrocyte sedimentation rate (ESR). Thrombocytopenia, neutropenia, and high LDH were statistically significantly more frequent in patients admitted to hematology centers than in patients admitted to rheumatology centers (p < 0.001, p=0.014, p=0.028, respectively). Patients who applied to rheumatology clinics were found to have statistically significantly higher CRP levels (p=0.032).

Conclusions: Malignancies may present with only MSK system complaints in childhood. Therefore, malignancies should be included in the differential diagnosis of patients presenting with MSK complaints.

Background: Adolescent pregnant women have significant risk factors in terms of preterm birth, low birth weight, gestational and neonatal complications, and neonatal and infant deaths. In many countries, living as a refugee differs from living as a local citizen regarding education level, access to health services, and lifestyle. We aimed to compare the obstetric, perinatal, and neonatal outcomes of Turkish and refugee adolescent pregnant women admitted to a tertiary maternity center.

Methods: The study was planned as a retrospective cross-sectional. We included adolescent pregnant women who delivered between February 2018 and August 2023. Adolescent pregnant women were divided into two groups, the Turkish group and the Syrian refugee group, and compared with each other.

Results: One thousand and fifty-one Turkish and 742 refugee adolescent pregnant women were included in the study. Adolescent pregnancy rates are higher in refugees than in the Turkish group (p < 0.001). We found that maternal age (p < 0.001), preeclampsia rates (p=0.029), gestational age at delivery (p < 0.001), and cesarean delivery rates (p=0.02) were lower in refugee adolescent pregnant women. Furthermore, we found that the anemia rates (p < 0.001) and low birth weight newborn rates (p = 0.011) were higher in refugee adolescent pregnant women.

Conclusions: Enhancing the outcomes of adolescent pregnancies among refugees necessitates a heightened focus on education regarding sexual reproduction, increased prenatal follow-ups, and enhanced training in family planning.

Background: Isolated mitral valve aneurysm is rarely reported in children. In most cases it is associated with an underlying disease such as infective endocarditis. MVA can lead to severe complications that needs surgical intervention.

Case: In this report, we present a 9-year old asymptomatic male patient with anterior mitral valve aneurysm and rhythm disturbance diagnosed incidentally during pre-operative evaluation.

Conclusions: Being rare in children, isolated MVA should be kept in mind in the differential diagnosis of mass lesions seen on the atrial side of the mitral valve. A 24-hour electrocardiogram may define subtle rhythm disturbances in these patients.

Background: Intravascular fasciitis (IF) is a benign, reactive, myofibroblastic proliferation that originates from the superficial or deep fascia of small / medium-sized arteries and veins.

Case report: An 8-year-old male patient was admitted to a health center with the complaint of swelling in the inguinal region. Lower extremity venous Doppler ultrasonography showed deep vein thrombosis (DVT) of the femoral vein and anticoagulation with low-molecular weight heparin (LMWH) was initiated. The patient was referred to our center for follow-up. The D-dimer level was detected within normal limits. Doppler ultrasonography was repeated and showed an intraluminal expanding mass lesion with increasing vascularity, without distinct borders and LMWH was discontinued. This lesion at the sapheno-femoral junction was excised surgically and the histopathological examination revealed intravascular fasciitis.

Conclusion: Clinicians should be aware that the clinical findings of IF may mimic sarcoma and thrombosis.