Turkish Journal of Pediatrics

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...

BACKGROUND: The clinical presentation of mercury (Hg) intoxication may mimic rheumatic diseases. Hg exposure is associated with systemic lupus erythematosus (SLE)-like disease in genetically susceptible rodents and Hg is among the environmental factors in the development of SLE in humans. Herein, we presented a case with clinical and immunological features suggestive of SLE but diagnosed with Hg intoxication. CASE: A thirteen-year-old female with myalgia, weight loss, hypertension and proteinuria was referred to our clinic for the evaluation of possible SLE...

BACKGROUND: Chronic inflammatory demyelinating neuropathy has been reported after the use of tumor necrosis factor inhibitors. The mechanisms of nerve injury caused by tumor necrosis factor inhibitors are not yet well understood. CASE: In this paper, we report a 12 year and nine month old girl who developed chronic inflammatory demyelinating neuropathy in the course of juvenile idiopathic arthritis after etanercept withdrawal. She became non-ambulant with four-limb involvement...

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...

BACKGROUND: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a peripheral nervous system disease associated with polyautoimmunity. CASE: We report a previously healthy 13-year old boy who was referred to our outpatient clinic with gait disturbance and distal lower limb weakness that had been increasing for six months. The patient had decreased deep tendon reflexes in the upper extremities and absence in the lower extremities, reduced muscle strength in the distal and proximal lower extremities, muscle atrophy, drop foot, and normal pinprick sensations...

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...

BACKGROUND: Catatonia is a complex neuropsychiatric disorder involving stupor, waxy flexibility, and mutism lasting more than 1 hour. It has arisen mostly from mental and neurologic disorders. Organic causes are more prominent in children. CASE: A 15-year-old female who had refused to eat and drink for 3 days, had not talked, and had stood in a fixed position for long periods was admitted to the inpatient clinic, and she was diagnosed with catatonia. Her maximum score on the Bush-Francis Catatonia Rating Scale (BFCRS) was 15/69 on day 2 of her stay...

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...

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...

BACKGROUND: Klippel-Trenaunay syndrome (KTS) is an overgrowth syndrome associated with capillary/venous/ lymphatic malformations with limb hypertrophy and cancer risk. Various cancers, mostly Wilms tumor, have been reported in patients with KTS, but not leukemia. Chronic myeloid leukemia (CML) is also a rare disease in children, where there is no known disease or syndrome to predispose to CML. CASE: We report a case of CML incidentally diagnosed in a child with KTS when he was bleeding from surgery of the left groin for vascular malformation...

BACKGROUND: Despite advanced endovascular methods and comprehensive intensive care in the neonatal vein of Galen aneurysmal malformation, overall mortality ranges between 37-63% in treated patients with 37-50% of survivors possessing poor neurologic outcomes. These findings stress the need for more accurate and timely recognition of the patients who may and may not benefit from aggressive intervention. CASE: This case report presents a newborn with a vein of Galen aneurysmal malformation whom antenatal and postnatal follow-up included serial magnetic resonance imaging (MRI) including diffusion-weighted series...

BACKGROUND: This study evaluated the efficacy of a single dose of phenytoin/fosphenytoin (PHT) to control repetitive seizures in children with benign convulsions with mild gastroenteritis (CwG). METHODS: Children aged between 3 months and 5 years with CwG were retrospectively enrolled. Convulsions with mild gastroenteritis were defined as (a) seizures with acute gastroenteritis without fever or dehydration; (b) normal blood laboratory results; and (c) normal electroencephalography and brain imaging findings...

BACKGROUND: Management of pediatric patients presenting with first seizure is challenging, especially with regards to emergent neuroimaging. The rate of abnormal neuroimaging findings is known to be higher in focal seizures than in generalized seizures, but those intracranial abnormalities are not always clinically emergent. In this study, we aimed to determine the rate and indicators for clinically important intracranial abnormalities that change acute management in children presenting with a first focal seizure to the pediatric emergency department (PED)...

BACKGROUND: Tricho-rhino-phalangeal syndrome (TRPS) is a rare, autosomal dominant disorder characterized by typical craniofacial features, ectodermal and skeletal findings. TRPS type 1 (TRPS1) is caused by pathogenic variations in the TRPS1 gene, which relates to the vast majority of cases. TRPS type 2 (TRPS2) is a contiguous gene deletion syndrome involving loss of functional copies of the TRPS1, RAD21, and EXT1. Herein, we reported the clinical and genetic spectrum of seven TRPS patients with a novel variant...

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)...

BACKGROUND: Coronary arterial lesions (CALs) are the major component of Kawasaki disease (KD), associated with significant morbidity, which affect a substantial proportion of patients despite proper treatment. The aim of this study was to define the risk factors for CALs in Turkish children with KD. METHODS: Medical records of 399 KD patients from five pediatric rheumatology centers in Turkey were reviewed retrospectively. Demographic, clinical (including duration of fever before intravenous immunoglobulin [IVIG] and resistance to IVIG), laboratory and echocardiographic data were noted...

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%)...

BACKGROUND: Aortic elasticity is a predictor and recognized factor for future cardiovascular events in children. The aim of the study was to evaluate the aortic stiffness in obese and overweight children compared to healthy ones. METHODS: The study evaluated 98 sex matched children aged 4 to 16 years that were equally distributed in asymptomatic obese or overweight and healthy children groups. All the participants were free of any heart diseases. Arterial stiffness indices were determined using two-dimensional echocardiography...

BACKGROUND: To investigate the relationship between neonatal urine bisphenol A (BPA) levels and the prevalence and prognosis of transient tachypnea of the newborn (TTN). METHODS: This prospective study was conducted between January and April 2020 in the Neonatal Intensive Care Unit (NICU) of Gaziantep Cengiz Gökçek Obstetrics and Pediatric Hospital. The study group consisted of patients diagnosed with TTN and the control group was made up of healthy neonates housed together with their mothers...

BACKGROUND: This study aimed to validate the Turkish version of Collins` Body Figure Perceptions and Preferences (BFPP) scale. The second aim of this study was to investigate the relationship between body image dissatisfaction (BID) and body esteem (BE), and between body mass index (BMI) and BID, among Turkish children. METHODS: A descriptive cross-sectional study was conducted among 2066 4th grade children (mean age was 10.06 ± 0.37 years) in Ankara, Turkey...