BACKGROUND: The detection of incidental findings on children's brain MR imaging poses various practical issues because the lifelong implications of such findings may be profound. PURPOSE: Our aim was to assess the prevalence and characteristics of incidental brain MR imaging findings in children. DATA SOURCES: Electronic databases (PubMed, EMBASE, and Cochrane) were searched for articles published between 1985 to July 2018, with the following search terms: "incidental," "findings," "brain," "MR imaging." STUDY SELECTION: Inclusion criteria were the following: 1) patients younger than 21 years of age, 2) healthy children without any clinical condition, 3) MR images obtained with at least a 1.5T magnet, 4) original articles, and 5) a methodologic quality score of $10. DATA ANALYSIS: Two observers independently extracted data and assessed data quality and validity. The number and type of incidental findings were pooled. Heterogeneity was assessed using the Cochran Q statistic and the I 2 statistic. DATA SYNTHESIS: Seven studies were included, reporting 5938 children (mean age, 11.3 6 2.8 years). Incidental findings were present in 16.4% (99% CI, 9.8-26.2; Q 4 117.5, I 2 4 94.9%) of healthy children, intracranial cysts being the most frequent (10.2%, 99% CI, 3.1-28.5; Q 4 306.4, I 2 4 98.0%). Nonspecific white matter hyperintensities were reported in 1.9% (99% CI, 0.2-16.8; Q 4 73.6, I 2 4 94.6%), Chiari 1 malformation was found in 0.8% (99% CI, 0.5-1.3; Q 4 7.6, I 2 4 60.5%), and intracranial neoplasms were reported in 0.2% (99% CI, 0.1-0.6; Q 4 3.4, I 2 4 12.3%). In total, the prevalence of incidental findings needing follow-up was 2.6% (99% CI, 0.5-11.7; Q 4 131.2, I 2 4 95.4%). Incidental findings needing specific treatment were brain tumors (0.2%) and cavernomas (0.2%). LIMITATIONS: Limitations were no age stratification or ethnicity data and variation in the design of included studies. CONCLUSIONS: The prevalence of incidental findings is much more frequent in children than previously reported in adults, but clinically meaningfull incidental findings were present in ,1 in 38 children.
Background and purpose: Mitochondrial aminoacyl-tRNA synthetases-encoded by ARS2 genes-are evolutionarily conserved enzymes that catalyse the attachment of amino acids to their cognate tRNAs, ensuring the accuracy of the mitochondrial translation process. ARS2 gene mutations are associated with a wide range of clinical presentations affecting the CNS. Methods: Two senior neuroradiologists analysed brain MRI of 25 patients (age range: 3 d-25 yrs.; 11 males; 14 females) with biallelic pathogenic variants of 11 ARS2 genes in a retrospective study conducted between 2002 and 2019.Results: Though several combinations of brain MRI anomalies were highly suggestive of specific aetiologies (DARS2, EARS2, AARS2 and RARS2 mutations), our study detected no MRI pattern common to all patients. Stroke-like lesions were associated with pathogenic SARS2 and FARS2 variants. We also report early onset cerebellar atrophy and calcifications in AARS2 mutations, early white matter involvement in RARS2 mutations, and absent involvement of thalami in EARS2 mutations. Finally, our findings show that normal brain MRI results do not exclude the presence of ARS2 mutations: 5 patients with normal MRI images were carriers of pathogenic IARS2, YARS2, and FARS2 variants.Conclusion: Our study extends the spectrum of brain MRI anomalies associated with pathogenic ARS2 variants and suggests ARS2 mutations are largely underdiagnosed
doi: medRxiv preprint NOTE: This preprint reports new research that has not been certified by peer review and should not be used to guide clinical practice.
BackgroundBiallelic variants in PNPT1 cause a mitochondrial disease of variable severity. PNPT1 (polynucleotide phosphorylase) is a mitochondrial protein involved in RNA processing where it has a dual role in the import of small RNAs into mitochondria and in preventing the formation and release of mitochondrial double-stranded RNA into the cytoplasm. This, in turn, prevents the activation of type I interferon response. Detailed neuroimaging findings in PNPT1-related disease are lacking with only a few patients reported with basal ganglia lesions (Leigh syndrome) or non-specific signs.Objective and methodsTo document neuroimaging data in six patients with PNPT1 highlighting novel findings.ResultsTwo patients exhibited striatal lesions compatible with Leigh syndrome; one patient exhibited leukoencephalopathy and one patient had a normal brain MRI. Interestingly, two unrelated patients exhibited cystic leukoencephalopathy resembling RNASET2-deficient patients, patients with Aicardi-Goutières syndrome (AGS) or congenital CMV infection.ConclusionWe suggest that similar to RNASET2, PNPT1 be searched for in the setting of cystic leukoencephalopathy. These findings are in line with activation of type I interferon response observed in AGS, PNPT1 and RNASET2 deficiencies, suggesting a common pathophysiological pathway and linking mitochondrial diseases, interferonopathies and immune dysregulations.
IMPORTANCEThe COVID-19 pandemic and the containment and mitigation measures taken were feared to be associated with increased child abuse. OBJECTIVE To investigate the trend of abusive head trauma (AHT) incidence and severity in infants during the COVID-19 pandemic. DESIGN, SETTING, AND PARTICIPANTSIn a time-series analysis of a longitudinal, populationbased, cohort study, all consecutive cases of AHT in infants younger than 12 months old referred between January 2017 and December 2021 to Necker Hospital for Sick Children, the single regional pediatric neurosurgery center for the Paris metropolitan area, were included. AHT was defined as 1 or more subdural hemorrhage and a positive multidisciplinary evaluation after a social, clinical, biological, and radiological workup. Data were analyzed from January to March 2022. MAIN OUTCOMES AND MEASURESThe primary outcome was the monthly incidence of AHT, which was analyzed using Poisson regression modeling. Secondary outcomes included mortality and severe morbidity and were studied with logistic and linear regressions. The monthly incidence of neurosurgical interventions for hydrocephalus was used as a control series. RESULTS Among the 99 included infants with AHT (median [IQR] age, 4 [3-6] months; 64 boys[65%]), 86 of 99 (87%) had bridging vein thrombosis, 74 of 99 (75%) had retinal hemorrhages, 23 of 72 (32%) had fractures, 26 of 99 (26%) had status epilepticus, 20 of 99 (20%) had skin injuries, 53 of 99 (54%) underwent neurosurgical interventions, and 13 of 99 (13%) died. Compared with the prepandemic period (2017-2019), AHT incidence was stable in 2020 (adjusted incidence rate ratio, 1.02; 95% CI, 0.59-1.77) and then significantly increased in 2021 (adjusted incidence rate ratio, 1.92; 95% CI, 1.23-2.99). The severity of AHT worsened in 2021 in terms of mortality (odds ratio 9.39; 95% CI, 1.88-47.00). Other secondary outcomes and the control series were not significantly modified. CONCLUSIONS AND RELEVANCEIn this cohort study, a marked increase in AHT incidence and severity occurred during the COVID-19 pandemic in the Paris metropolitan area. These results suggest the need for clinical awareness and preventive actions.
Neurologic manifestations associated with Covid-19 are increasingly reported, especially stroke and acute cerebrovascular events. Beyond cardiovascular risk factors associated with age, some young adults without medical or cardiovascular history had stroke as a presenting feature of Covid-19. Suggested stroke mechanisms in this setting are inflammatory storm, subsequent hypercoagulability, and vasculitis. To date, a handful of pediatric stroke cases associated with Covid-19 have been reported, either with a cardioembolic mechanism or a focal cerebral arteriopathy. We report the case of an adolescent who presented with febrile meningism and stupor. Clinical, biological, and radiological features favored the diagnosis of Lemierre syndrome (LS), with Fusobacterium necrophorum infection (sphenoid sinusitis and meningitis) and intracranial vasculitis. The patient had concurrent SARS-CoV-2 infection. Despite medical and surgical antimicrobial treatment, stroke prevention, and venous thrombosis prevention, he presented with severe cerebrovascular complications. Venous thrombosis and stroke were observed, with an extension of intracranial vasculitis, and lead to death. As both F. necrophorum and SARS-CoV-2 enhance inflammation, coagulation, and activate endothelial cells, we discuss how this coinfection may have potentiated and aggravated the usual course of LS. The potentiation by SARS-CoV-2 of vascular and thrombotic effects of a bacterial infection may represent an underreported cerebrovascular injury mechanism in Covid-19 patients. These findings emphasize the variety of mechanisms underlying stroke in this disease. Moreover, in the setting of SARS-CoV-2 pandemic, we discuss in what extent sanitary measures, namely, lockdown and fear to attend medical facilities, may have delayed diagnosis and influenced outcomes. This case also emphasizes the role of clinical assessment and the limits of telemedicine for acute neurological condition diagnosis.
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