Urinary tract infection (UTI) represents one of the most frequent infections with bacterial etiology during childhood. In infants and toddlers with fever without source UTI’ investigation should be carried out, since signs and symptoms are nonspecific. However, obtaining uncontaminated urine samples from these patients can be challenging and time consuming; all current collection methods (clean-catch, plastic collection bag, catheterization, etc) have disadvantages. Criteria for UTI definition are represented by the presence of significant number of a single uropathogen, this number being different depending on the collection method: at least 1000 colony-forming unit (CFU/ml) for catheter samples and at least 100.000 CFU/ml from midstream clean-catch samples or 50.000 CFU/ml and significant pyuria in a symptomatic or febrile child. Accurate diagnosis of UTI is essential to avoid any antibiotic overuse and expensive investigations. UTI caused by resistant bacterial strains has an increasing prevalence in children. In pediatric population, extended spectrum beta-lactamase-producing Enterobacteriaceae (ESBLPE) represent the etiology of around 15% of UTIs. Because of limited therapeutic options the reintroduction of some old antimicrobial agents is necessary, therefore Nitrofurantoin and Fosfomycin, can represent alternatives for oral treatment and prophylaxis of UTIs in children or in case of resistance suspicion to other drug classes. It is important to recognize patients at risk, such as children with recurrent UTIs, kidney abnormalities, like vesicoureteral reflux and previous antibiotherapy, in order to recommend adequate empiric treatment, especially against resistant bacteria.
Introduction: In approximately 96% of probands, the diagnosis of Treacher Collins Syndrome (TCS) is confirmed by molecular genetic tests. These tests can detect heterozygous mutation of TCOF1 gene (coding treacle protein) and variants of POLR1D gene (coding RNA polymerase I subunit D) with autosomal dominant inheritance, or biallelic variants of POLR1C gene (coding RNA polymerase I subunit C) and POLR1D with autosomal recessive inheritance.
Case presentation: We present a neonate proband with family history of clinical features suggestive for TCS. Our patient was investigated for copy number changes (CNCs) of TCOF1 gene using SALSA MLPA P310-B3 TCOF1 probemix to perform Multiplex Ligation-dependent Probe Amplification (MLPA), the results being normal. Dysmorphic features revealed “bird-like” face with trigonocephaly, craniosynostosis, hypoplastic supraorbital rims, underdeveloped zygomas, mandibular hypoplasia and retrognathia (mandibulofacial dysostosis). Other clinical features, like abnormal position and structure of the external ears (microtia, with a bilateral low-set ears, crumpled and malformed pinnae and aural atresia), were also observed.
Conclusion: Taking into account our results, and also data found in literature, we consider that all TCS cases, but in particular patients with specific TCS features and without CNCs, require additional investigations using sequencing techniques.
Background: Pulmonary arterial hypertension (PAH) is an incapacitating disease even in childhood, associated with very poor prognosis. The disease is characterised by endothelial dysfunction. Two of the key endothelial mediators involved in the PAH pathogenesis are nitric oxide (NO) and angiotensinogen (AGT). Purpose of the study: to evaluate the following gene polymorphisms: endothelial nitric oxide synthase (eNOS) G894T, eNOS 4b/4a, and angiotensinogen (AGT) M235T, as well as allele frequency and their association with PAH in children. Material and methods This study included 32 children with pulmonary arterial hypertension secondary to congenital heart disease, 46 children with congenital heart disease without pulmonary arterial hypertension referred to the Pediatric Cardiology Clinic Tg.Mures and 40 healthy controls. All patients underwent a complete physical with NYHA class evaluation, echocardiographic exam and eNOS (G894T, 4b/4a) as well as AGT M235T polymorphisms determination. Results The frequency of eNOS 894T allele (p < 0.0001) was significantly higher in patients with pulmonary arterial hypertension. Conclusions Our results advocate that there is a correlation between eNOS 894T allele and pulmonary arterial hypertension in children
Pediatricians frequently encounter hematuria in children. One of the tardy complication of pulmonary tuberculosis, which is most characteristic and common in teenagers and middle aged, is represented by genitourinary tuberculosis. Renal tuberculosis is rare during childhood. The authors present a series of cases where the presenting symptom was gross or microscopic persistent hematuria. The diagnosis of urogenital tuberculosis was established from early-morning urine culture in all cases. In a patient with symptoms of recurrent urinary tract infection or hematuria associated with sterile pyuria the suspicion of GUTB must be considered. A delayed diagnosis of renal tuberculosis led to kidney damage and sequels of GUTB, including renal failure. Our cases report emphasizes that in case of persistent hematuria GUTB may be considered as a differential diagnosis
Introduction: Venous thromboembolism is a rare condition in paediatrics that included both deep venous thrombosis and pulmonary embolism. Serratia marcescens is a gram-negative bacterium that belongs to the Enterobacteriaceae family and tends to affect immunocompromised hosts.
Case report: We report the case of an 11-year-old boy, admitted in the Pediatric Clinic I from Emergency County Hospital Tîrgu Mureș, Romania with intense pain, swelling, cyanosis and claudication of the left foot. His personal history revealed a recent appendectomy. A close family was reported to have had a deep venous thrombosis. The laboratory tests, performed on the day of admission, revealed increased inflammatory biomarkers and D-dimer. Coagulation tests gave a low activated partial thromboplastin time (APTT). Doppler venous ultrasound and CT-exam established a diagnosis of deep venous thrombosis. Anticoagulant therapy was initiated, but on the tenth day of admission, the patient developed signs and symptoms of sepsis, and the blood culture revealed Serratia marcescens. After antibiotic and anticoagulant therapy, the patient progressed favourably. The patient was a carrier of the heterozygous form of Factor V Leiden.
Conclusions: The association between deep venous thrombosis and Serratia marcescens sepsis can compromise a condition in pediatric patients.
Approximately 10-20% of children and 40% of adults with idiopathic nephrotic syndrome are steroid resistant and progress to end-stage renal disease requiring dialysis or renal transplantation. In these cases, renal histology typically shows focal segmental glomerulosclerosis. Mutations in NPHS1, NPHS2, WT1, CD2AP and ACTN4 genes located on different chromosomes, expressed by glomerular podocytes, have been identified in patients with steroid-resistant nephrotic syndrome.
The authors report two cases of adolescent-onset steroid-resistant nephrotic syndrome. Both cases had similar clinical and histopathological manifestations, with different prognosis and evolution due to different mechanisms leading to proteinuria: an acquired and a genetic form. The first case, a 16 year old girl presented the onset of the disease with massive, generalized edema, secondary hypothyroidism and high blood pressure. Evolution was favorable under cyclosporine therapy. The second case, a 13-years-old adolescent girl, presented an insidious onset of the disease with mild edema. Genetic testing revealed a mutation in the WT1 gene. The patient developed end-stage kidney failure eight months after the onset of the disease and following kidney transplant had a favorable evolution. Histological examination of the renal biopsy specimen showed focal segmental glomerulosclerosis in both cases.
Conclusions: Genetic forms of nephrotic syndrome do not respond to immunosuppressive therapy and may progress to end-stage renal disease, but after kidney transplantation relapse is not expected, in contrast to the immune form. The early genetic diagnosis in steroid-resistant nephrotic syndrome is time-consuming, but is important for proper clinical management of the patients, prognosis and genetic counseling of the families.
Sepsis is a systemic inflammatory response (SIRS) characterized by two or more of the following: fever > 38.5 °C or <36 °C, tachycardia, medium respiratory frequency over two SD for age, increased number of leukocytes.
The following is a case of an eight months old, female infant, admitted in to the clinic for fever (39.7 C), with an onset five days before the admission, following trauma to the inferior lip and gum. Other than the trauma to the lip and gum, a clinical exam did not reveal any other pathological results. The laboratory tests showed leukocytosis, positive acute phase reactants (ESR 105 mm/h, PCR 85 mg/dl), with positive blood culture for Staphylococcus aureus MSSA. at 24 hours. Three days from admission, despite the administration of antibiotics (Vancomycin+Meronem), there was no remission of fever, and the infant developed a fluctuant collection above the knee joint. This was drained, and was of a serous macroscopic nature. A decision was made to perform a CT, which confirmed the diagnosis of septic arthritis. At two days after the intervention, the fever reappeared, therefore the antibiotic regime were altered (Oxacillin instead of Vancomycin), resulting in resolution of the fever. Sepsis in infant is a complex pathology, with non-specific symptoms and unpredictable evolution.
Thrombophilia represents a tendency towards excessive blood clotting and the subsequent development of venous thromboembolism (VTE). VTE is a rare condition in children that comprises both deep venous thrombosis (DVT) and pulmonary embolism (PE). This paper reports the case of a 16-year-old girl, admitted to the Pediatrics Clinic No. 1, Tîrgu Mureș, Romania, for dyspnea, chest pain and loss of consciousness. Her personal history showed that she had had two orthopedic surgical interventions in infancy, two pregnancies, one spontaneous miscarriage and a recent caesarian section at 20 weeks of gestation for premature detachment of a normally positioned placenta associated with a deceased fetus. Laboratory tests showed increased levels of D-dimers. Angio-Computed Tomography (Angio-CT) showed multiple filling defects in both pulmonary arteries, establishing the diagnosis of PE. The laboratory tests were undertaken to assist in the diagnoses of a possible thrombophilia underlined a low level of antithrombin III. Antiphospholipid syndrome was ruled out and genetic tests revealed no specific mutation. Anticoagulant therapy was initiated with unfractionated heparin and afterwards subcutaneously low molecular heparin was prescribed for three months. Later it has been changed to oral therapy with acenocoumarol. The patient was discharged in good general status with the recommendation of life-long anticoagulation therapy. Thrombophilia is a significant risk factor for PE, and it must be ruled out in all cases of repeated miscarriage.
Introduction: Interstitial deletions of the long arm of chromosome 14q (OMIM 613457) are very rare conditions.
Case presentation: We present a 3-month-old male patient with dysmorphic features and congenital heart defect associated with a small interstitial deletion of chromosome 14q, identified by cytogenetic analysis as 46,XY,del(14)(q11q12). Dysmorphic features included microcephaly, broad nasal bridge, micrognathia, large and poorly folded auricular lobes and long digits. He also present rectus abdominis diastasis and umbilical hernia. The cranial computer tomography showed partial agenesis of the corpus callosum and ventriculomegaly.
Conclusions: Cytogenetic analysis or molecular techniques are necessary to establish the correct diagnosis in patients with multiple congenital anomalies in association with proximal or distal interstitial 14q deletion.