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NOTCH1 belongs to the NOTCH family of proteins that regulate cell fate and inflammatory responses. Somatic and germline NOTCH1 variants have been implicated in cancer, Adams-Oliver syndrome, and cardiovascular defects. We describe 7 unrelated patients grouped by the presence of leukoencephalopathy with calcifications and heterozygous de novo gain-of-function variants in NOTCH1. Immunologic profiling showed upregulated CSF IP-10, a cytokine secreted downstream of NOTCH1 signaling. Autopsy revealed extensive leukoencephalopathy and microangiopathy with vascular calcifications. This evidence implicates that heterozygous gain-of-function variants in NOTCH1 lead to a chronic central nervous system (CNS) inflammatory response resulting in a calcifying microangiopathy with leukoencephalopathy. ANN NEUROL 2022;92:895-901.
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Displasia Ectodérmica , Leucoencefalopatias , Humanos , Receptor Notch1/genética , Receptor Notch1/metabolismo , Quimiocina CXCL10 , Sistema Nervoso Central/metabolismoRESUMO
PURPOSE: Peritonsillar abscess can be diagnosed by B-mode ultrasound and cross-sectional imaging. The latter (with MRI being the modality of first choice in children) is associated with higher effort and risk for pediatric patients due to the administration of X-rays and/or the need of sedation. The purpose of this study is to evaluate whether the introduction of CEUS into the diagnostic algorithm for suspected pediatric peritonsillar abscess is suitable and advantageous. MATERIALS AND METHODS: Single-institution retrospective review of data of pediatric patients who were presented to the department of pediatric radiology for sonographic evaluation under the suspicion of peritonsillar abscess. Diagnostic performance of CEUS was evaluated by using surgical exploration or clinical follow-up as the reference standard. RESULTS: 284 children included in the study underwent B-mode ultrasound. Mean age of all patients was 6,23 years. Peritonsillar abscess was the diagnosis in 42 patients. Diagnosis of peritonsillar abscess was made by B-mode ultrasound alone in 13 of 42 patients (31 %). In 17 of 42 patients (40 %), diagnosis was made by a combination of B-mode ultrasound and CEUS. Sensitivity rose from 37 % to 86 % in cases where B-mode ultrasound remained unclear and CEUS was used. CONCLUSION: Contrast-enhanced ultrasound (CEUS) is suitable and efficient for the diagnosis of peritonsillar abscess in pediatric patients. It increases the sensitivity for the diagnosis of peritonsillar abscess and thereby reduces the need of additional cross-sectional imaging for the pediatric patients.
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Abscesso Peritonsilar , Criança , Humanos , Abscesso Peritonsilar/diagnóstico por imagem , Abscesso Peritonsilar/cirurgia , Ultrassonografia/métodos , Estudos RetrospectivosRESUMO
Expert recommendations for the management of tumor surveillance in children with a variety of cancer predisposition syndromes (CPS) are available. We aimed (1) at identifying and characterizing children who are affected by a CPS and (2) at comparing current practice and consensus recommendations of the American Association for Cancer Research workshop in 2016. We performed a database search in the hospital information system of the University Children's Hospital for CPS in children, adolescents, and young adults and complemented this by review of electronic patients' charts. Between January 1, 2017, and December 3, 2019, 272 patients with 41 different CPS entities were identified in 20 departments (144 [52.9%] male, 128 [47.1%] female, median age 9.1 years, range, 0.4-27.8). Three (1.1%) patients died of non-malignancy-associated complications of the CPS; 49 (18.0%) patients were diagnosed with malignancy and received regular follow-up. For 209 (95.0%) of the remaining 220 patients, surveillance recommendations were available: 30/220 (13.6%) patients received CPS consultations according to existing consensus recommendations, 22/220 (10.0%) institutional surveillance approaches were not complying with recommendations, 84/220 (38.2%) patients were seen for other reasons, and 84/220 (38.2%) were not routinely cared for. Adherence to recommendations differed extensively among CPS entities. CONCLUSION: The spectrum of CPS patients at our tertiary-care children's hospital is manifold. For most patients, awareness of cancer risk has to be enhanced and current practice needs to be adapted to consensus recommendations. Offering specialized CPS consultations and establishing education programs for patients, relatives, and physicians may increase adherence to recommendations. WHAT IS KNOWN: ⢠A wide spectrum of rare syndromes manifesting in childhood is associated with an increased cancer risk. ⢠For many of these syndromes, expert recommendations for management and tumor surveillance are available, although based on limited evidence. WHAT IS NEW: ⢠Evaluating current practice, our data attest significant shortcomings in tumor surveillance of children and adolescents with CPS even in a tertiary-care children's hospital. ⢠We clearly advocate a systematic and consistent integration of tumor surveillance into daily practice.
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Neoplasias , Adolescente , Criança , Feminino , Predisposição Genética para Doença , Hospitais , Humanos , Masculino , Neoplasias/diagnóstico , Neoplasias/epidemiologia , Estudos Retrospectivos , Síndrome , Estados Unidos , Adulto JovemRESUMO
Introduction: Genetic disposition is a major etiologic factor in childhood cancer. More than 100 cancer predisposing syndromes (CPS) are known. Surveillance protocols seek to mitigate morbidity and mortality. To implement recommendations in patient care and to ascertain that the constant gain of knowledge forces its way into practice specific pediatric CPS programs were established. Patients and methods: We retrospectively analyzed data on children, adolescents, and young adults referred to our pediatric CPS program between October 1, 2021, and March 31, 2023. Follow-up ended on December 31, 2023. Results: We identified 67 patients (30 male, 36 female, 1 non-binary, median age 9.5 years). Thirty-five patients were referred for CPS surveillance, 32 for features suspicious of a CPS including café-au-lait macules (n = 10), overgrowth (n = 9), other specific symptoms (n = 4), cancer suspicious of a CPS (n = 6), and rare neoplasms (n = 3). CPS was confirmed by clinical criteria in 6 patients and genetic testing in 7 (of 13). In addition, 6 clinically unaffected at-risk relatives were identified carrying a cancer predisposing pathogenic variant. A total of 48 patients were eventually diagnosed with CPS, surveillance recommendations were on record for 45. Of those, 8 patients did not keep their appointments for various reasons. Surveillance revealed neoplasms (n = 2) and metachronous tumors (n = 4) by clinical (n = 2), radiological examination (n = 2), and endoscopy (n = 2). Psychosocial counselling was utilized by 16 (of 45; 35.6%) families. Conclusions: The diverse pediatric CPSs pose several challenges necessitating interdisciplinary care in specified CPS programs. To ultimately improve outcome including psychosocial well-being joint clinical and research efforts are necessary.
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Neurofibromatosis type 1 (NF1) is a phenotypically heterogenous multisystem cancer predisposition syndrome manifesting in childhood and adolescents. Central nervous system (CNS) manifestations include structural, neurodevelopmental, and neoplastic disease. We aimed to (1) characterize the spectrum of CNS manifestations of NF1 in a paediatric population, (2) explore radiological features in the CNS by image analyses, and (3) correlate genotype with phenotypic expression for those with a genetic diagnosis. We performed a database search in the hospital information system covering the period between January 2017 and December 2020. We evaluated the phenotype by retrospective chart review and imaging analysis. 59 patients were diagnosed with NF1 [median age 10.6 years (range, 1.1-22.6); 31 female] at last follow-up, pathogenic NF1 variants were identified in 26/29. 49/59 patients presented with neurological manifestations including 28 with structural and neurodevelopmental findings, 16 with neurodevelopmental, and 5 with structural findings only. Focal areas of signal intensity (FASI) were identified in 29/39, cerebrovascular anomalies in 4/39. Neurodevelopmental delay was reported in 27/59 patients, learning difficulties in 19/59. Optic pathway gliomas (OPG) were diagnosed in 18/59 patients, 13/59 had low-grade gliomas outside the visual pathways. 12 patients received chemotherapy. Beside the established NF1 microdeletion, neither genotype nor FASI were associated with the neurological phenotype. NF1 was associated with a spectrum of CNS manifestations in at least 83.0% of patients. Regular neuropsychological assessment complementing frequent clinical and ophthalmologic testing for OPG is necessary in the care of each child with NF1.
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Neurofibromatose 1 , Glioma do Nervo Óptico , Humanos , Feminino , Neurofibromatose 1/complicações , Neurofibromatose 1/genética , Estudos Retrospectivos , Glioma do Nervo Óptico/diagnóstico , Glioma do Nervo Óptico/epidemiologia , Glioma do Nervo Óptico/genética , Fenótipo , GenótipoRESUMO
BACKGROUND: Ultrasound is one of the most important imaging methods in the daily routine. Contrast-enhanced ultrasound (CEUS) has put ultrasound on equal footing with computed tomography and magnetic resonance imaging in many areas. Although ultrasound contrast agents are commonly administered intravenously, endocavitary application as performed in the case of iodine-containing contrast agents is also possible. METHOD: Based on the current literature, this overview provides information regarding possible endocavitary applications of ultrasound contrast agents as they are used and could be used in the daily routine in radiology. Examples are provided to illustrate the advantages and disadvantages of clinical use. RESULTS AND CONCLUSION: Endocavitary CEUS broadens the spectrum of possible ultrasound applications and can be safely used for patient diagnosis and treatment. The method can be safely used for diagnosis and patient management, particularly in patients in whom examinations including exposure to radiation with iodine-containing contrast agents may be contraindicated and who have limited mobility due to disease severity. KEY POINTS: · Endocavitary CEUS is a safe method that can be readily learned by those with prior ultrasound training. Radiologists benefit from their existing knowledge of contrast-enhanced imaging.. · With ultrasound contrast agents, endocavitary examinations comparable to CT and fluoroscopy can be performed without having to take radiation exposure, preexisting conditions, and patient mobility into consideration.. · In principle, endocavitary CEUS can access every body cavity (physiological and pathological) and body orifice with any access device.. · The method is mainly used for interventions including puncture and drainage. The diluted ultrasound contrast agent can be continuously visualized in the access device and in the target region, including distribution within the target region, with high spatial and temporal resolution. Voiding urosonography and visualization of the salivary duct system should also be mentioned in the radiological context.. · Poor B-mode imaging conditions typically also mean poor CEUS conditions. Imaging methods that can reliably evaluate low-lying structures and structures with overlying air, particularly in obese patients, without artifacts and can provide a good overview have a clear advantage here.. CITATION FORMAT: · Vollert K, Clevert DA, Kleffel T. Endocavitary Contrast-Enhanced Ultrasound. Fortschr Röntgenstr 2022; 194: 1204â-â1214.
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Meios de Contraste , Iodo , Humanos , Ultrassonografia , Imageamento por Ressonância Magnética , Tomografia Computadorizada por Raios XRESUMO
Immunocompromised patients are at high risk of secondary infection associated with high morbidity. In children these complications include fungal osteomyelitis due to continuous infiltration or hematogenous spread. The case of a 4-year-old boy is presented who developed lumbalgia and thigh pain during ongoing chemotherapy for acute lymphatic leukemia. MRI revealed infarct-like lesions in the femur and L5 vertebra, which were biopsied. The histologic diagnosis was consistent with angioinvasive aspergillosis. A multifocal osseous presentation has rarely been described in children and an overview of the literature is presented. Invasive aspergillosis is a rare complication to be considered in children with MRI-detected bony lesions of infarct-like appearance.
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Aspergilose , Fêmur/diagnóstico por imagem , Vértebras Lombares/diagnóstico por imagem , Osteomielite/diagnóstico , Pancitopenia/complicações , Leucemia-Linfoma Linfoblástico de Células Precursoras , Pré-Escolar , Diagnóstico Diferencial , Humanos , Imageamento por Ressonância Magnética , Masculino , Osteomielite/diagnóstico por imagem , Osteomielite/microbiologia , Dor , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Radiografia , UltrassonografiaRESUMO
BACKGROUND: Gastrointestinal stromal tumors (GIST) are extremely rare in children. Imaging plays a key role in staging and monitoring therapy (surgical and with tyrosine kinase inhibitors). The vast majority of articles addressing imaging of GIST base on adults and are based on CT. The subtype "pediatric GIST" - if at all - is only mentioned in a dependent clause. Although the imaging features in children and adults are similar, histology, clinical course and thus imaging approach are different. METHODS: A PubMed search using the search terms "Gastrointestinal stromal tumor, GIST, WT GIST, children, pediatric, carney's triad, imaging, staging, follow-up, MRI, CEUS, ultrasonography, Positron emission tomography" was conducted. Studies that reported on laparoscopy, endoscopy and surgical techniques only were excluded. RESULTS: Based on our selective literature review, we present alternative radiological imaging strategies using MRI, contrast enhanced ultrasound (CEUS) and PET-CT to stage and follow-up pediatric GIST patients. As pediatric GIST often is a chronic disease, minimizing exposure to ionizing radiation is mandatory. CONCLUSION: MRI, contrast enhanced ultrasound and PET-CT instead of CT are the imaging modalities to evaluate pediatric GIST. TYPE OF STUDY: Systematic review LEVEL OF EVIDENCE: III.
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Tumores do Estroma Gastrointestinal/diagnóstico por imagem , Imagem Multimodal/normas , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/normas , Tomografia Computadorizada por Raios X/normas , Criança , Condroma , Meios de Contraste , Feminino , Tumores do Estroma Gastrointestinal/patologia , Humanos , Leiomiossarcoma , Neoplasias Pulmonares , Imageamento por Ressonância Magnética/métodos , Masculino , Paraganglioma Extrassuprarrenal , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Neoplasias Gástricas , Tomografia Computadorizada por Raios X/métodosRESUMO
Splanchnic artery aneurysms are very rare in children. We report a 10-year-old girl with a large atraumatic ruptured superior mesenteric artery aneurysm that was considered inoperable. She was ultimately treated with two percutaneous US-guided thrombin injections, which led to complete occlusion of the aneurysm. The aetiology of the aneurysm remained unclear, but a family history was suggestive of a congenital connective tissue disease such as Ehlers-Danlos syndrome subtype IV.