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BACKGROUND: Thyroid nodules are unusual in children, but when present, they carry a higher risk for malignancy, as compared to adults. Several guidelines have been created to address the risk stratification for malignancy of thyroid nodules in adults, but none has been completely validated in children. A few authors have proposed lowering the size threshold to the American College of Radiology Thyroid Imaging, Reporting and Data System (ACR TI-RADS™) management guidelines to decrease missed carcinomas at presentation in children; however, little information is known regarding their accuracy. OBJECTIVE: To assess the performance of proposed modifications of the ACR TI-RADS™ size criteria to guide management decisions in pediatric thyroid nodules and to assess the associated increase in number of fine needle aspiration (FNA) and follow-up exams. MATERIALS AND METHODS: This is a retrospective study of children under 18 years old who underwent ultrasound assessment of a thyroid nodule at a tertiary care pediatric institution between January 2006 and August 2021. The largest dimension, maximum ACR TI-RADS™ score, and final thyroid nodules' diagnoses were documented. The course of action based on the adult ACR TI-RADS™ and after modifying the size threshold for management recommendations was documented and compared. Statistics included descriptive analysis, weighted Kappa statistics, sensitivity, specificity, accuracy, and positive/negative predictive values of the ACR TI-RADS™ presented with 95% confidence intervals (CI) using either Clopper-Pearson or standard logit methods. RESULTS: Of 116 nodules, 18 (15.5%) were malignant. Most malignant nodules (94.4%, n = 17) were ACR TI-RADS™ 4 and ACR TI-RADS™ 5 categories. Based on the adult ACR TI-RADS™ criteria, 24 (24.5%) benign and 15 (83.3%) malignant nodules would have undergone FNA; 14 (14.3%) benign and 3 (16.7%) malignant nodules would have been followed up; and 60 (61.2%) benign and none of malignant nodules would have been dismissed. Three (16.7%) malignant nodules would not have been recommended FNA at presentation, delaying their diagnoses. By lowering the size-threshold criteria of the ACR TI-RADS™ guidelines, no malignancy would have been missed at presentation, but this also resulted in a higher number of FNA from 24 (24.5%) to 36 (36.7%) and follow-up ultrasound exams from 14 (14.3%) to 62 (63.3%). CONCLUSION: Applying potential modifications to the ACR TI-RADS™ guideline lowering the size threshold criteria of the thyroid nodule to guide management decisions for pediatric thyroid nodules can lead to early detection of malignant nodules in children, but at the cost of a significantly increased number of biopsies or ultrasound exams. Further tailoring of the guideline with larger multicentric studies is needed, before warranting its acceptance and general use in the pediatric population.
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Nódulo da Glândula Tireoide , Ultrassonografia , Humanos , Nódulo da Glândula Tireoide/diagnóstico por imagem , Nódulo da Glândula Tireoide/terapia , Nódulo da Glândula Tireoide/patologia , Criança , Masculino , Adolescente , Feminino , Estudos Retrospectivos , Ultrassonografia/métodos , Biópsia por Agulha Fina , Estados Unidos , Sociedades Médicas , Sistemas de Informação em Radiologia , Guias de Prática Clínica como Assunto , Glândula Tireoide/diagnóstico por imagem , Glândula Tireoide/patologia , Pré-EscolarRESUMO
Objective: To retrospectively correlate imaging findings post-sclerotherapy of low-flow vascular malformations with clinical outcome. Materials and Methods: We retrospectively evaluated 81 pediatric patients who had sclerotherapy in our department over a 14-year period. Patients with a diagnosis of low-flow vascular malformation, pre and post-treatment ultrasound (US) and clinical follow-up evaluation were included in the study. Exclusion criteria were coexisting high-flow vascular malformations, history of additional surgical or medical treatment to their malformation and large infiltrative lesions difficult to measure on US. Pre and post-treatment sonographic volumes of the malformation were assessed. Changes in volume were categorized into 6- increased volume, stable and volume decrease of 1-25%/26-50%/51-75%/75-100%. Clinical outcomes were categorized into 4 - worse, no change, improved and symptom free. In cases where pre-treatment MRI was available, the estimated malformation volumes in both modalities were correlated using Spearman's rank correlation. The change in sonographic volume was correlated with clinical outcome using Spearman's rank correlation. P-values < .05 were considered significant. Results: Twenty-nine patients were included in the study; 13 with venous malformation (VM), and 16 with lymphatic malformation (LM). Nineteen patients had both pre-treatment US and MRI, showing correlation in volume between the 2 modalities (P < .001). Post-treatment change in volume correlated with clinical outcome for combined venous and LMs (rho = .44, P = .02). No correlation was found when venous (rho = .48, P = .09) and lymphatic (rho = .33, P = .21) malformations were considered separately. Conclusion: Ultrasound can potentially be used as an objective tool in evaluating sclerotherapy treatment response of low-flow vascular malformations in the pediatric population.
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Escleroterapia , Malformações Vasculares , Criança , Humanos , Escleroterapia/efeitos adversos , Escleroterapia/métodos , Soluções Esclerosantes/uso terapêutico , Estudos Retrospectivos , Resultado do TratamentoRESUMO
Purpose: It has been shown that oral contrast does not improve the diagnostic accuracy of Computed Tomography (CT) for appendicitis in pediatric patients; however, the cohorts in these studies were not stratified by weight or body mass index. The purpose of this study is to assess the benefit of oral contrast administration for identifying the appendix in younger children in the lower weight quartile. Materials and Methods: This retrospective study comprised 100 patients (2-10 years) in lower weight quartile who had intravenous contrast-enhanced CT of the abdomen and pelvis, 37 of which with oral contrast, and 63 without. A pediatric radiologist and a pediatric radiology fellow independently assessed whether the appendix was visualized or not. In case of discrepancy, an additional pediatric radiologist was the "tie-breaker." Chi-squared test was used to compare the proportion of visualized appendix between the groups (with and without oral contrast). Inter-rater reliability was determined using Cohen's Kappa coefficient. Results: There was no significant difference in the visualization of the appendix between the group with oral contrast and without (P = 1). The Cohen Kappa coefficients were .33 (.05, .62) and .91 (.73, 1.00) for the "no oral" and "oral" groups, respectively, yielding evidence of a difference (P = .007). Conclusions: There was no significant difference in the visualization of the appendix using CT with or without oral contrast in low-weight pediatric patients. The inter-rater reliability, however, was significantly higher in the group given oral contrast. Additional studies assessing the value of oral contrast for the sole indication of appendicitis may provide clearer results.
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Apendicite , Apêndice , Apendicite/diagnóstico por imagem , Apêndice/diagnóstico por imagem , Criança , Meios de Contraste , Humanos , Reprodutibilidade dos Testes , Estudos Retrospectivos , Tomografia Computadorizada por Raios X/métodosRESUMO
BACKGROUND: Surveillance post image-guided percutaneous liver biopsy in children is variable. OBJECTIVE: The aim of this study was to assess the value of 4-6-h post-procedure ultrasonography (US) in detecting post-liver-biopsy hemorrhage. MATERIALS AND METHODS: This prospective study included pediatric patients who underwent US-guided percutaneous liver biopsies. All children had a US study obtained pre-procedure and one obtained 4-6 h post-procedure; US examinations were deemed positive if abnormalities were present. We also reviewed any subsequent imaging that was performed within 7 days (late imaging) at the discretion of the referring team. Changes in US findings (ΔUS) were graded by two radiologists using a descriptive non-validated scale (none, minimal, marked). Hemoglobin (Hb) levels were assessed pre-procedure and 4 h post-procedure. The diagnostic accuracy of US changes for detecting post-procedural hemorrhage was calculated based on a drop in Hb >1.5 g/dL or Hb >15% from baseline (ΔHb). We used a Kruskal-Wallis test to correlate the ΔHb with ΔUS. Association between late-imaging and post-procedure US findings was tested using a chi-square test. We included 224 biopsies. RESULTS: The sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of post-procedure US in detecting post-procedure hemorrhage ranged 26.3-42.1%, 72.4-93.3%, 0.22-0.42, and 0.87-0.88, respectively. No significant association was seen between the ΔHb and sonographic findings (P=0.068). No significant difference was seen in the need for late imaging between children who did and those who did not have positive US findings (P=0.814). CONCLUSION: The sensitivity and PPV of post-procedure US in detecting post-procedural hemorrhage are low. Our findings do not support routine post-procedure surveillance US.
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Hemorragia/diagnóstico por imagem , Fígado/diagnóstico por imagem , Fígado/patologia , Ultrassonografia/métodos , Adolescente , Biópsia por Agulha/efeitos adversos , Criança , Pré-Escolar , Feminino , Hemorragia/etiologia , Humanos , Lactente , Masculino , Estudos Prospectivos , Sensibilidade e EspecificidadeRESUMO
PURPOSE: The aim of our study was to compare whole-body diffusion-weighted MRI (WB-DWI-MRI) to fluoro-2-deoxyglucose positron emission tomography/computed tomography (FDG-PET/CT) in the assessment of initial staging and treatment response in pediatric patients with Hodgkin lymphoma. MATERIALS AND METHODS: This prospective study comprised 11 children with Hodgkin lymphoma. Whole-body DWI-MRI and FDG-PET/CT were obtained at baseline and after 2 cycles of chemotherapy. Two radiologists measured the apparent diffusion coefficient (ADC) values of the sites of involvement agreed upon in consensus and 1 nuclear medicine physician assessed the PET/CT. Reliability of radiologists' ratings was assessed by intraclass correlation coefficients (ICC2,1). The sensitivity and positive predictive value (PPV) of DW-MRI relative to PET/CT were calculated for nodal and extranodal sites. The patients were staged according to both modalities. Association of treatment responses was assessed through the Pearson correlation between the ADC ratios and the change standardized uptake value (SUV) between baseline and follow-up. RESULTS: There was good agreement between the raters for nodal and extranodal ADC measurements. The sensitivity and PPV of DW-MRI relative to PET/CT of nodal disease was 0.651 and 1.0, respectively, at baseline, and 0.697 and 0.885 at follow-up. The sensitivity and PPV of extranodal disease were 0.545 and 0.6 at baseline, and 0.167 and 0.333 at follow-up. Diffusion-weighted MRI determined correct tumor stage in 8 of 11 examinations. There was poor correlation between the ADC ratios and the absolute change in SUV between baseline and follow-up (0.348). CONCLUSION: Our experience showed that WB-DWI-MRI is inferior to PET/CT for initial staging and assessment of treatment response of Hodgkin lymphoma in pediatric patients.
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Imagem de Difusão por Ressonância Magnética , Doença de Hodgkin/diagnóstico por imagem , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Imagem Corporal Total/métodos , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Criança , Feminino , Fluordesoxiglucose F18 , Doença de Hodgkin/tratamento farmacológico , Doença de Hodgkin/patologia , Humanos , Linfonodos/diagnóstico por imagem , Masculino , Estadiamento de Neoplasias , Variações Dependentes do Observador , Valor Preditivo dos Testes , Estudos Prospectivos , Compostos Radiofarmacêuticos , Reprodutibilidade dos TestesRESUMO
The GTPBP2 gene encodes a guanosine triphosphate (GTP)-binding protein of unknown function. Biallelic loss-of-function variants in the GTPBP2 gene have been previously reported in association with a neuro-ectodermal clinical presentation in six individuals from four unrelated families. Here, we provide detailed descriptions of three additional individuals from two unrelated families in the context of the previous literature. Both families carry nonsense variants in GTPBP2: homozygous p.(Arg470*) and compound heterozygous p.(Arg432*)/p.(Arg131*). Key features of this clinically recognizable condition include prenatal onset microcephaly, tone abnormalities, and movement disorders, epilepsy, dysmorphic features, retinal dysfunction, ectodermal dysplasia, and brain iron accumulation. Our findings suggest that some aspects of the clinical presentation appear to be age-related; brain iron accumulation may appear only after childhood, and the ectodermal findings and peripheral neuropathy are most prominent in older individuals. In addition, we present prenatal and neonatal findings as well as the first Caucasian and black African families with GTPBP2 biallelic variants. The individuals described herein provide valuable additional phenotypic information about this rare, novel, and progressive neuroectodermal condition.
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Ectoderma/patologia , Proteínas de Ligação ao GTP/genética , Família , Humanos , Síndrome , Sequenciamento do ExomaRESUMO
BACKGROUND: The pediatric reproductive organs are optimally imaged with a full bladder. The filling of the bladder, however, often leads to significant delay in diagnosis and can subject the patient to invasive bladder catheterization. As the key imaging feature in ovarian torsion is unilateral ovarian enlargement, we suspected that a torsed ovary is large enough to be visualized even if the bladder is not well distended. OBJECTIVE: The purpose of this study was to retrospectively investigate if clinically suspected adnexal torsion can be excluded based on non-visualization of the ovaries on transabdominal ultrasound (US) with a non-distended bladder in pediatric patients. MATERIALS AND METHODS: This retrospective study comprised 349 girls (1-19 years old) between Jan. 1, 2013, and July 30, 2018. Three hundred and forty-one of the girls were referred to transabdominal US to assess for adnexal torsion and/or appendicitis, and the ovaries were initially not visualized on US. Their bladders were subsequently filled and rescanned with a distended bladder showing the ovaries. Ovarian volumes and time between US scans were documented. The ratio of the volume of the larger ovary to the smaller one was calculated. Nine girls had surgically proven adnexal torsion and a preoperative transabdominal US with a non-distended bladder. There was an overlap of one girl between the two groups. The negative predictive value (NPV), positive predictive value (PPV), and sensitivity and specificity for exclusion of adnexal torsion based on non-visualization of the ovaries on US with a non-distended bladder were calculated. RESULTS: One of the girls (1/341) who had a US study done with a non-distended bladder in which the ovaries were not visualized had a positive diagnosis of adnexal torsion. In eight of the nine girls who had surgically proven adnexal torsion, the torted ovary was identified with a non-distended bladder. The NPV and PPV for exclusion of adnexal torsion with a non-distended bladder was 1.0 and 0.8, respectively. The specificity and sensitivity were 99.4% and 88.9%, respectively. The mean and median time difference between the initial scan and the scan after bladder filling was 105.1 min (standard deviation [SD] -65.8) and 89.0 min (interquartile range [IQR]- 59.0, 130.5), respectively. CONCLUSION: Non-visualization of the ovaries with a non-distended bladder on transabdominal US study can help exclude clinically suspected adnexal torsion, alleviating the need for bladder filling and prolonging the wait time in the emergency department. Inclusion of non-visualization of the ovaries as one of the features in a predictive score for adnexal torsion should be considered.
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Doenças dos Anexos/diagnóstico por imagem , Anormalidade Torcional/diagnóstico por imagem , Ultrassonografia/métodos , Anexos Uterinos/diagnóstico por imagem , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Ovário/diagnóstico por imagem , Estudos Retrospectivos , Sensibilidade e Especificidade , Adulto JovemRESUMO
BACKGROUND: The Kwak Thyroid Imaging Reporting and Data System (Kwak-TI-RADS) guideline (2011) and American College of Radiology Thyroid Imaging Reporting and Data System (ACR TI-RADS) guideline (2017) were developed as ultrasound (US) risk stratification tools for detecting thyroid malignancy in adults. OBJECTIVE: The purpose of this study was to investigate the inter-rater reliability and diagnostic performance of the ACR TI-RADS guideline in the pediatric population and compare it to the Kwak guideline. MATERIALS AND METHODS: This retrospective study comprised 75 children who underwent thyroid US at a tertiary-level pediatric hospital. Three pediatric radiologists and one pediatric radiology fellow graded the US findings using the Kwak-TI-RADS and ACR TI-RADS guidelines. We assessed reliability of radiologists' ratings using percentage inter-rater agreement, and intra-class correlation coefficients (ICC2,1). We assessed area-under-the-receiver-operating-characteristic curve (AUROCC) to compare the discriminative diagnostic ability of the Kwak-TI-RADS and ACR TI-RADS scoring systems against histopathology/cytology, or stability on US over a 2-year follow-up period for cases without tissue diagnosis. RESULTS: The inter-rater agreement was significantly better for the ACR TI-RADS level compared to the Kwak-TI-RADS level (P<0.001) using the percentage pairwise agreement. The ROC curves for assessing the diagnostic performance of the two methods showed no significant difference between the methods. The AUROCCs for the Kwak-TI-RADS and ACR TI-RADS levels were 0.74 (95% confidence interval [CI] 0.67-0.82) and 0.72 (95% CI 0.61-0.82), respectively. CONCLUSION: Both the Kwak-TI-RADS and ACR TI-RADS guidelines provide moderate malignancy risk stratification for thyroid nodules in the pediatric population, with better inter-rater agreement for the ACR TI-RADS guideline. Further work to adjust the recommendations for pediatric patients is necessary.
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Nódulo da Glândula Tireoide/diagnóstico por imagem , Ultrassonografia/métodos , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Ontário , Reprodutibilidade dos Testes , Estudos RetrospectivosRESUMO
Previous studies in singleton pregnancies reported conflicting trends in apparent diffusion coefficient (ADC) values with gestational age (GA) and stable relative ADC (rADC; ADC placenta divided by ADC globe) throughout pregnancy. The purpose of our study was to compare the ADC and rADC of placentas of twin and singleton pregnancies. MATERIALS AND METHODS: Fetal MRI of 11 twin and 23 singleton pregnancies were retrospectively analyzed. Each group was further divided by GA (≤24 and >24 weeks). On ADC, 3 regions of interest were selected in the placenta and 1 in the globe. ADC and rADC measurements were compared between different GA and between singleton and twin placentas. RESULTS: No significant difference was shown between ADC and rADC values of singleton and twin placentas as well as between ADC and rADC values of singleton and twin placentas at different GA. No significant difference was shown when accounting for both GA and number of fetuses. CONCLUSION: The diffusion characteristics of twin placentas are similar to those of singleton placentas. ADC and rADC remain stable throughout pregnancy in twin and singleton placentas, reflecting stable extracellular water diffusion, despite changes associated with placental maturation.
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Imageamento por Ressonância Magnética/métodos , Placenta/diagnóstico por imagem , Placenta/metabolismo , Gravidez de Gêmeos/metabolismo , Diagnóstico Pré-Natal/métodos , Difusão , Feminino , Humanos , Gravidez , Estudos RetrospectivosRESUMO
We describe a case of a 5-day-old male who presented with severe hemoperitoneum due to rupture of one of multiple hepatic hemangiomas, necessitating urgent embolization. Hepatic hemangiomas are common in the pediatric age group. The multifocal type typically presents shortly after birth, and have not been reported to bleed. The focal type is typically congenital with intratumoral bleeding described as a potential complication. We report a previously undescribed presentation of multifocal hepatic hemangiomas.
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Serine deficiency disorders can result from deficiency in one of three enzymes. Deficiency of the second enzyme, 3-phosphoserine aminotransferase (PSAT), has been reported in two siblings; the eldest investigated for acquired microcephaly, spasticity and epilepsy. Our patient had neurological symptoms at birth. Fetal magnetic resonance imaging (MRI) at 35-week gestation demonstrated microencephaly and gyral simplification (anterior > posterior) which was confirmed upon postnatal MRI. Congenital microcephaly was apparent at birth. PSAT deficiency was confirmed when exome sequencing identified biallelic mutations in PSAT1 and biochemical testing noted low plasma serine and cerebral spinal fluid serine. Despite oral serine and glycine supplementation at 4 months old, the patient showed little neurodevelopmental progress and developed epileptic spasms at 10 months old. PSAT deficiency should be considered for patients with congenital microcephaly. Although further characterization of MRI findings in other patients is required, microencephaly with simplified gyral pattern could provide imaging clues for this rare metabolic disorder.
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Imageamento por Ressonância Magnética , Microcefalia/etiologia , Diagnóstico Pré-Natal/métodos , Transtornos Psicomotores/diagnóstico por imagem , Convulsões/diagnóstico por imagem , Transaminases/deficiência , Feminino , Humanos , Lactente , Recém-Nascido , Microcefalia/complicações , Microcefalia/diagnóstico por imagem , Gravidez , Transtornos Psicomotores/complicações , Convulsões/complicaçõesRESUMO
We describe a case of a 14-year-old boy with a history of Legg-Calve-Perthes disease diagnosed at the age of 6 years and development of synovial osteochondromatosis of the same hip joint 7 years later. Synovial osteochondromatosis is very rare in children, and to the best of our knowledge, only a single case of Legg-Calve-Perthes disease and secondary synovial osteochondromatosis was described in the literature in a 35-year-old male, making this the first reported case of Legg-Calve-Perthes disease with development of synovial osteochondromatosis in a pediatric patient.