Archives De Pediatrie最新文献

{"title":"NEOSKID study: Four years of experience in newborn screening for severe combined immunodeficiencies in the Pays de la Loire region of France","authors":"Marie Rimbert ,&nbsp;Marie Audrain ,&nbsp;Alexandra Léger ,&nbsp;Charline Miot ,&nbsp;Aurélie Fantou ,&nbsp;Caroline Hémont ,&nbsp;Lea Lemoine ,&nbsp;Caroline Poli ,&nbsp;Isabelle Pellier ,&nbsp;Aurore Catteau ,&nbsp;Gervaise Hubert ,&nbsp;Jérôme Martin ,&nbsp;Audrey Grain ,&nbsp;Caroline Thomas","doi":"10.1016/j.arcped.2025.07.004","DOIUrl":"10.1016/j.arcped.2025.07.004","url":null,"abstract":"<div><div>In this article, we report the results of four years (2019–2023) of newborn blood spot screening for severe lymphopenia using TREC (T-cell receptor excision circle) quantification in the Pays de la Loire region in France. Our main objective was to analyze underlying causes of T-cell lymphopenia revealed by positive testing. During the study period, 156,892 newborns were screened and ten were identified with T-cell lymphopenia (1/13,260 births), of whom three were diagnosed with severe combined immunodeficiencies (SCID: 1/40,000 births). Our results confirm data from international reports and our previous nationwide study (DEPISTREC; 2015 to 2017). We conclude that routine newborn screening for T-cell lymphopenia is operational to detect and swiftly treat infants with SCID.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"32 8","pages":"Pages 570-574"},"PeriodicalIF":1.3,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145454226","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"NT-proBNP plasma levels as early predictor of ventilatory support in bronchiolitis: A prospective analysis","authors":"Zayani Seyfeddine ,&nbsp;Thabet Farah ,&nbsp;Daya Abir ,&nbsp;Benabdallah Imen ,&nbsp;Mkaouer Wejdenne ,&nbsp;Chouchane Chokri ,&nbsp;Neffati Fadoua ,&nbsp;Chouchane Slaheddine","doi":"10.1016/j.arcped.2025.06.006","DOIUrl":"10.1016/j.arcped.2025.06.006","url":null,"abstract":"<div><h3>Objective</h3><div>To evaluate the role of serum NT-proBNP (N-Terminal Pro Brain Natriuretic Peptide) levels as an early predictor of ventilatory support in infants hospitalized with bronchiolitis.</div></div><div><h3>Design</h3><div>A single-center, prospective, observational study.</div></div><div><h3>Setting</h3><div>Pediatric department of a tertiary university-affiliated hospital in Tunisia.</div></div><div><h3>Patients</h3><div>Eighty infants under one year of age, admitted with bronchiolitis between December 2023 and February 2024, were included. Infants with comorbidities such as congenital heart disease or immunosuppression were excluded.</div></div><div><h3>Interventions</h3><div>NT-proBNP levels were measured within 2 h of admission. Patients were managed following standard protocols, and the need for ventilatory support was documented.</div></div><div><h3>Main outcome measures</h3><div>The association of elevated NT-proBNP levels (&gt;1585 pg/mL) with the requirement for ventilatory support, as well as the predictive accuracy of NT-proBNP compared to the Wang score.</div></div><div><h3>Results</h3><div>Of the 80 infants, 33.8 % had elevated NT-proBNP levels, and 18.8 % required ventilatory support. Median NT-proBNP levels were significantly higher in the ventilatory support group (2185 pg/mL) compared to those managed with room air or simple oxygen therapy (634 pg/mL). NT-proBNP demonstrated superior predictive accuracy (AUC 0.869) compared to the Wang score (AUC 0.701). A threshold of 1585 pg/mL yielded 73.3 % sensitivity and 87.7 % specificity. NT-proBNP elevation was independently associated with the need for ventilatory support (OR 17.1; 95 % CI 4.46–65.6).</div></div><div><h3>Conclusions</h3><div>NT-proBNP levels provide valuable prognostic insights into bronchiolitis severity and outperform clinical severity scores like the Wang score in predicting ventilatory support needs. Integration of NT-proBNP measurement into clinical practice may enhance risk stratification and improve management of high-risk infants.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"32 8","pages":"Pages 580-584"},"PeriodicalIF":1.3,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145245885","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neonatal screening: Development and evaluation of a video as an informational resource for parents. Prospective single-center study in a level III maternity hospital","authors":"Sophie Briols,&nbsp;Karine Mention Mulliez,&nbsp;Thameur Rakza","doi":"10.1016/j.arcped.2025.08.006","DOIUrl":"10.1016/j.arcped.2025.08.006","url":null,"abstract":"<div><h3>Background</h3><div>Neonatal screening, including biological assessments and hearing impairment evaluations, is offered to all newborns in France. It is essential to provide parents with adequate information to ensure informed consent; however, current efforts remain insufficient. This study aimed to develop and evaluate an informational video for parents regarding these screenings.</div></div><div><h3>Materials and Methods</h3><div>The video, a two-minute animated presentation accessible on the in-room televisions, was developed by a multidisciplinary working group and assessed through a prospective survey, which involved distributing questionnaires to parents during their stay at the Jeanne de Flandre maternity ward of Lille University Hospital between October 2022 and October 2023.</div></div><div><h3>Results</h3><div>A total of 417 parents participated. Their feedback on the video was positive, with 89.2 % feeling adequately informed about the screenings their newborns would undergo. Parents rated the format as appropriate (5.0 [4.0; 5.0] on a Likert scale of 1 to 5), the video as easy to understand (5.0 [4.0; 5.0]), and reassuring (4.0 [4.0; 5.0]).</div></div><div><h3>Conclusion</h3><div>Informational videos are an effective and well-received method for educating parents about neonatal screening.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"32 8","pages":"Pages 564-569"},"PeriodicalIF":1.3,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145472337","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"How lived experience can be used to find the causes of errors in pediatric oral liquid dosage forms","authors":"Anaëlle Dollo ,&nbsp;Jean-Philippe Rivière ,&nbsp;Sonia Prot-Labarthe","doi":"10.1016/j.arcped.2025.08.005","DOIUrl":"10.1016/j.arcped.2025.08.005","url":null,"abstract":"<div><h3>Background</h3><div>Oral liquid dosage forms (OLDFs) are the preferred choice for pediatric patients but often result in dosing errors by parents and caregivers.</div></div><div><h3>Objectives</h3><div>This study aimed to investigate the causes of dosing errors in the reconstitution and preparation of OLDFs.</div></div><div><h3>Methods and Setting</h3><div>A prospective observational qualitative study was conducted from October to November 2022. Participants were approached and recruited face-to-face by the research team in a university building (classrooms, personal offices, etc.) based on the following criteria: being 18 or older and fluent in French. They were asked to prepare a dose of either amoxicillin (Clamoxyl® GSK®, spoon) or amoxicillin-clavulanic acid (Sandoz®, dose-weight pipette) based on a prescription. After completing the task, participants underwent a micro-phenomenological interview conducted by a trained researcher. Data were analyzed using the Valenzuela Moguillansky and Vásquez-Rosati procedure, and errors were classified according to Reason’s taxonomy.</div></div><div><h3>Results</h3><div>Seventeen of the eighteen participants were included in the analysis. Fourteen errors were identified, primarily related to the spoon, the patient information leaflets(PIL) and the secondary packaging. The main causes included unclear and poorly visible dosing markings on the spoon, unclear water level markings on the medication bottles, and confusing PILs. Most errors were classified as Rule-Based Mistakes according to Reason’s taxonomy.</div></div><div><h3>Conclusion</h3><div>This study contributed to the understanding of how the occurrence of errors is multifactorial: there are not only visible errors, but also numerous misunderstandings that may or may not lead to errors. Lived experience proved invaluable in elucidating the cognitive and behavioral factors contributing to these errors and Reason’s taxonomy of errors emerged as useful and applicable in the context of medication administration.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"32 8","pages":"Pages 585-591"},"PeriodicalIF":1.3,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145472247","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mitochondrial Leigh syndrome: the state of the art","authors":"Gauthier Toutain ,&nbsp;Célia Hoebeke ,&nbsp;Marguerite Gastaldi ,&nbsp;Mathieu Milh ,&nbsp;Brigitte Chabrol","doi":"10.1016/j.arcped.2025.04.007","DOIUrl":"10.1016/j.arcped.2025.04.007","url":null,"abstract":"<div><h3>Background</h3><div>Leigh syndrome or subacute necrotizing encephalomyelopathy was first recognized as a neuropathological entity in 1951. It is a progressive neurological disease characterized by neuroradiological lesions, particularly in the brainstem and basal ganglia. Leigh's syndrome is a pan-ethnic disorder with onset usually in infancy or early childhood. Over the last six decades, this complex neurodegenerative disorder has been shown to comprise &gt;100 separate monogenic disorders associated with enormous clinical and biochemical heterogeneity. This article reviews clinical, radiological, biochemical and genetic aspects of the disorder.</div></div><div><h3>Objectives</h3><div><em>:</em> this overview provides a better understanding of this rare mitochondrial disease by identifying its clinical, radiological and genetic manifestations in order to improve early diagnosis, patient follow-up and genetic counseling.</div></div><div><h3>Methodology</h3><div>systematic literature review</div></div><div><h3>Results</h3><div>Leigh syndromes present with childhood developmental regression, a loss of previously achieved developmental milestones. Numerous non-neurological manifestations of Leigh syndrome have been reported, many of which are related to the underlying genetic defects. These include cardiomyopathy, renal tubulopathy, gastrointestinal and endocrine dysfunction, and liver disease. Known genetic causes, including defects in 16 mitochondrial DNA (mtDNA) genes and nearly 100 nuclear genes, are categorized into disorders of subunits and assembly factors of the five oxidative phosphorylation enzymes, disorders of pyruvate metabolism and vitamin and cofactor transport and metabolism, disorders of mtDNA maintenance, and defects in mitochondrial gene expression, protein quality control, lipid remodeling, dynamics and toxicity. An approach to diagnosis is presented, together with known treatable causes and an overview of current supportive management options and emerging therapies on the horizon</div></div><div><h3>Conclusion</h3><div>Management of mitochondrial diseases must be multidisciplinary, and in collaboration with a center of reference (CRMR) or a center of competence (CCMR) with expertise in mitochondrial diseases.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"32 8","pages":"Pages 509-516"},"PeriodicalIF":1.3,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145454287","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of prognostic factors for high-flow nasal cannula therapy failure in infants with bronchiolitis: a prospective study","authors":"Seyfeddine Zayani ,&nbsp;Farah Thabet ,&nbsp;Amal Marzouki ,&nbsp;Abir Daya ,&nbsp;Manel Benfredj ,&nbsp;Salma Mhalla ,&nbsp;Chokri Chouchane ,&nbsp;Slaheddine Chouchane","doi":"10.1016/j.arcped.2025.06.002","DOIUrl":"10.1016/j.arcped.2025.06.002","url":null,"abstract":"<div><h3>Objective</h3><div>This study aims to identify factors associated with High-flow nasal cannula (HFNC) therapy failure in infants with moderate to severe bronchiolitis to personalize management and optimize outcomes.</div></div><div><h3>Methods</h3><div>A prospective cohort study was conducted from September 2021 to March 2023 in a pediatric intensive care unit. Infants aged 0–12 months with bronchiolitis requiring HFNC were included, excluding those with prior ventilation, tracheostomy, uncorrected cyanotic congenital heart disease, or chronic respiratory/neuromuscular conditions. Clinical and biological characteristics were evaluated at HFNC initiation and after 2 hours. Logistic regression was used to identify predictors of failure.</div></div><div><h3>Results</h3><div>Of 154 patients, 54 (35.1 %) experienced HFNC failure. Univariate analysis showed significant differences in age and weight at admission between responders and non-responders. Multivariate analysis identified weight below the 10th percentile, FiO2 ≥ 42.5 %, and Wang score ≥ 10 at initiation as predictors of failure. Persistence of tachycardia, tachypnea, hypercapnia, and FiO2 ≥ 48.5 % after 2 hours were also significant predictors. Common causes of failure were increased respiratory effort (64.8 %) and severe apnea (18.5 %).</div></div><div><h3>Conclusions</h3><div>Predictors of HFNC failure include low weight, high initial FiO2, and severe clinical scores, as well as persistent clinical instability during early therapy, aiding clinical decision-making.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"32 7","pages":"Pages 456-462"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144838654","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute disseminated encephalomyelitis mimicking brain tumor: about 2 pediatric cases","authors":"Francesca Albertini ,&nbsp;Mériam Koob ,&nbsp;Stephane Darteyre ,&nbsp;Sébastien Lebon","doi":"10.1016/j.arcped.2025.05.009","DOIUrl":"10.1016/j.arcped.2025.05.009","url":null,"abstract":"<div><h3>Introduction</h3><div>Acute disseminated encephalomyelitis (ADEM) ADEM is a well-known and treatable inflammatory pediatric condition with a good prognosis outcome. Atypical forms exist that can lead to misdiagnosis and sometimes inappropriate management.</div></div><div><h3>Observation and discussion</h3><div>We report two cases with tumor-like lesions, highlighting their clinical and magnetic resonance imaging (MRI) features. Diagnostic keys for prompt recognition are discussed.</div></div><div><h3>Conclusion</h3><div>Tumefactive demyelinating lesions can mimic brain tumors or abscesses, leading to potential misdiagnosis and inappropriate or delayed treatment. These two clinical cases emphasize the importance of considering this entity in the differential diagnosis of brain tumors in pediatric patients.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"32 7","pages":"Pages 503-505"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145245916","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurological disorders in pediatric emergency department: From consultation to follow-up of first epileptic seizures","authors":"Gaëlle Quentin-Romand ,&nbsp;Philippe Eckart ,&nbsp;Nathalie Bach ,&nbsp;Claire Dupont ,&nbsp;Anne-Sophie Diependaële","doi":"10.1016/j.arcped.2025.05.014","DOIUrl":"10.1016/j.arcped.2025.05.014","url":null,"abstract":"<div><h3>Background</h3><div>Neurological disorders are a common reason for consultations in pediatric emergency rooms. The aims of this study were 1) to evaluate the role of neurological symptoms in consultations in pediatric emergency departments at a French hospital, and 2) to assess the management of patients presenting with a first seizure in line with the 2020 recommendations of the French National Authority for Health (Haute Autorité de Santé - HAS).</div></div><div><h3>Method</h3><div>This single-center retrospective observational study was carried out over a period of 16 months, from January 2021 to April 2022. Children referred for neurological symptoms were identified through the ICD10 coding. Demographic data, past medical history for neurological disorder, circumstances of arrival at the emergency room, the occurrence of advice by a child neurologist at the emergency room, and the need for hospitalization were extracted from the files. Statistical analyses were performed in the subgroups of patients consulting for seizures and for headaches. The observance of the HAS guidelines after a first unprovoked seizure was analyzed in looking for EKG and appropriate blood work-up occurrences, and time delays for EEG, MRI, and pediatric neurology consultation.</div></div><div><h3>Results</h3><div>734 patients presented for neurological symptoms (2.2 % of emergency consultations). Headaches (<em>n</em> = 282) and seizures (<em>n</em> = 368) represent the most frequent reasons for visits (88.5 %). Of all seizures, a first unprovoked seizure affected 45 patients (12.2 %). Considering HAS recommendations for first seizures, only 3 patients (6.7 %) had a consultation with a pediatric neurologist within 15 days, and 9 patients (20 %) underwent a brain MRI within the first month.</div></div><div><h3>Discussion</h3><div>Our results confirm the high frequency of consultations for neuropediatric symptoms in French emergency departments, with seizures and headaches being the most common. However, they highlight challenges in obtaining specialist neuropediatric consultations and implementing national recommendations for the management of patients with a first unprovoked seizure.</div></div><div><h3>Conclusion</h3><div>Based on these results, establishing specialized neurological care networks would enhance patient management and ensure better implementation of HAS recommendations.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"32 7","pages":"Pages 487-491"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144838656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spinal dysraphism in newborns: Screening factors for prioritizing rapid spinal ultrasonography from a retrospective cohort study","authors":"Lorena Wagnez ,&nbsp;Mélodie-Anne Karnoub ,&nbsp;Thameur Rakza ,&nbsp;Constance Marié ,&nbsp;Pierre Tourneux","doi":"10.1016/j.arcped.2025.07.003","DOIUrl":"10.1016/j.arcped.2025.07.003","url":null,"abstract":"<div><h3>Background</h3><div>Spinal dysraphism is a common condition and may be either open or occult. Occult dysraphism is generally diagnosed in the postnatal period through clinical examination and spinal ultrasonography (USG). Clinical signs of spinal dysraphism are common and not specific. Several spinal USG are required to confirm or exclude this condition. It is crucial to identify the infants at highest risk of dysraphism for rapid USG, and avoid unnecessary screening. The aim of the study was to evaluate the relationship between clinical examination signs and spinal USG examination results to determine which clinical signs are associated with a high risk of dysraphism, to facilitate the prioritization of infants for spinal USG examinations.</div></div><div><h3>Patients and Methods</h3><div>We performed a retrospective cohort study in a regional neurosurgical and neonatal reference center, from January 2017 to December 2021. All infants undergoing screening for spinal dysraphism by USG during this period based on clinical indicators in the lumbosacral region were included. Infants who underwent spinal USG as part of a systematic assessment were excluded. The primary outcome was the incidence of abnormal USG results. The clinical characteristics of patients with suspected dysraphism were collected and compared between groups.</div></div><div><h3>Results</h3><div>We included 144 patients, 22.2 % USG results were abnormal suggesting occult dysraphism. USG was performed due to the presence of a simple sacral dimple in 41.7 % infants which was strongly associated with a normal USG result (RR = 0.32 _{95 %}CI [0.14 – 0.70]; <em>p</em> = 0.0029), whereas abnormal USG results were more frequent in patients with gluteal cleft abnormalities (RR = 3.09 _{95 %}CI [1.5 – 5.2]; <em>p</em> = 0.0029).</div><div><em>Conclusion</em>: Clinical signs such as sacral dimple or gluteal cleft abnormality could help prioritizing USG. The use of a diagnostic tree based on a “step-by-step” model would make it possible to avoid some unnecessary USG and would allow comparative international studies.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"32 7","pages":"Pages 492-496"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145276639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Distinguishing atypical focal areas of signal intensity from probable low-grade gliomas in the posterior fossa of children with neurofibromatosis type 1","authors":"Agnès Viguier ,&nbsp;Bastien Estublier ,&nbsp;Anne-Isabelle Bertozzi ,&nbsp;Marion Gambart ,&nbsp;Annick Sevely ,&nbsp;Nicolas Leboucq ,&nbsp;Pierre Antherieu ,&nbsp;François Rivier ,&nbsp;Pierre Meyer ,&nbsp;Didier Bessis ,&nbsp;Yves Chaix ,&nbsp;Eloïse Baudou","doi":"10.1016/j.arcped.2025.05.010","DOIUrl":"10.1016/j.arcped.2025.05.010","url":null,"abstract":"<div><h3>Introduction</h3><div>Focal areas of signal intensity (FASI) in the posterior fossa are common in children with neurofibromatosis type 1 (NF1). These can be difficult to distinguish from tumour processes when they are atypical. This study aimed to describe the initial radiological features of atypical posterior fossa FASI, depending on the clinical and radiological evolution of the lesion.</div></div><div><h3>Methods</h3><div>We conducted a multicentre retrospective study of NF1 children with atypical FASI in the posterior fossa. The lesions were classified according to their evolution over time: ‘non-neoplastic FASI’ if they regressed, or ‘possible neoplastic FASI’ if they remained stable or progressed.</div></div><div><h3>Results</h3><div>Forty-two lesions from 31 patients were analyzed. The mean follow-up period between the first and last MRI scans was 7.1 years. Twenty-one atypical FASI were classified as ‘non-neoplastic FASI’ and 21 as ‘possible neoplastic FASI’. Younger age at diagnosis, pontine location, and blurred contours were more indicative of ‘non-neoplastic FASI’ on the initial MRI, whereas symptomatic, cystic or exophytic lesions, the presence of enhancement after gadolinium injection, sharp contours, and clear mass effect were more indicative of a ‘possible neoplastic FASI’. Unexpectedly, abnormal initial spectroscopy and small mass effect could be found in ‘non-neoplastic FASI’, as could the presence of hypointensity on T1-weighted images.</div></div><div><h3>Conclusion</h3><div>This study is important in specifying which posterior fossa hyperintensities on T2-weighted MRIs require specific clinical and radiological follow-up.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"32 7","pages":"Pages 463-468"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144818367","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}