ABSTRACT
The embryonal central nervous system (CNS) tumor with PLAGL1 (pleomorphic adenoma gene-like) amplification is a novel type of pediatric neoplasm with a distinct methylation profile, described for the first time in 2022. It may be located anywhere in the neuroaxis and, as its name implies, it is driven by the amplification and overexpression of one of the PLAG family genes. Although the associated clinical, immunohistopathological, and molecular characteristics are well characterized in the seminal report of this entity, data on the radiological features is still lacking. Here, we present a case report of a 4-year-old girl with a biopsy-proven PLAGL1-amplified brainstem tumor and provide a detailed description of the corresponding conventional neuroimaging characteristics, aiming to better delineate this entity and to increase the awareness of this pathology in the radiological community.
Subject(s)
Transcription Factors , Humans , Female , Child, Preschool , Transcription Factors/genetics , Tumor Suppressor Proteins/genetics , Neoplasms, Germ Cell and Embryonal/diagnostic imaging , Neoplasms, Germ Cell and Embryonal/genetics , Neoplasms, Germ Cell and Embryonal/pathology , Magnetic Resonance Imaging , Gene Amplification , Brain Stem Neoplasms/genetics , Brain Stem Neoplasms/diagnostic imaging , Brain Stem Neoplasms/pathology , Cell Cycle ProteinsABSTRACT
Raising public awareness about the relevance of supporting sustainable practices is required owing to the phenomena of global warming caused by the rising production of greenhouse gases. The healthcare sector generates a relevant proportion of the total carbon emissions in developed countries, and radiology is estimated to be a major contributor to this carbon footprint. Neuroradiology markedly contributes to this negative environmental effect, as this radiological subspecialty generates a high proportion of diagnostic and interventional imaging procedures, the majority of them requiring high energy-intensive equipment. Therefore, neuroradiologists and neuroradiological departments are especially responsible for implementing decisions and initiatives able to reduce the unfavourable environmental effects of their activities, by focusing on four strategic pillars-reducing energy, water, and helium use; properly recycling and/or disposing of waste and residues (including contrast media); encouraging environmentally friendly behaviour; and reducing the effects of ionizing radiation on the environment. The purpose of this article is to alert neuroradiologists about their environmental responsibilities and to analyse the most productive strategic axes, goals, and lines of action that contribute to reducing the environmental impact associated with their professional activities.
Subject(s)
Greenhouse Gases , Radiology , Humans , Carbon Footprint , RadiologistsABSTRACT
Sellar/suprasellar tumors comprise about 10% of all pediatric Central Nervous System (CNS) tumors and include a wide variety of entities, with different cellular origins and distinctive histological and radiological findings, demanding customized neuroimaging protocols for appropriate diagnosis and management. The 5th edition of the World Health Organization (WHO) classification of CNS tumors unprecedently incorporated both histologic and molecular alterations into a common diagnostic framework, with a great impact in tumor classification and grading. Based on the current understanding of the clinical, molecular, and morphological features of CNS neoplasms, there have been additions of new tumor types and modifications of existing ones in the latest WHO tumor classification. In the specific case of sellar/suprasellar tumors, changes include for example separation of adamantinomatous and papillary craniopharyngiomas, now classified as distinct tumor types. Nevertheless, although the current molecular landscape is the fundamental driving force to the new WHO CNS tumor classification, the imaging profile of sellar/suprasellar tumors remains largely unexplored, particularly in the pediatric population. In this review, we aim to provide an essential pathological update to better understand the way sellar/suprasellar tumors are currently classified, with a focus on the pediatric population. Furthermore, we intend to present the neuroimaging features that may assist in the differential diagnosis, surgical planning, adjuvant/neoadjuvant therapy, and follow-up of this group of tumors in children.
ABSTRACT
We report a case of fetal microcephaly found during the second trimester ultrasound and confirmed by further ultrasound scans and fetal MRI. The array comparative genomic hybridisation analysis of the fetus and the male parent showed a 1.5 Mb deletion overlapping the Feingold syndrome region, an autosomal dominant syndrome that can cause microcephaly, facial/hand abnormalities, mild neurodevelopmental delay and others. This case illustrates the need for a detailed investigation by a multidisciplinary team to provide prenatal counselling regarding a postnatal outcome to the parents and orient their decision towards the continuation or termination of pregnancy.
Subject(s)
Intellectual Disability , Limb Deformities, Congenital , Microcephaly , Pregnancy , Female , Humans , Male , Microcephaly/diagnostic imaging , Microcephaly/genetics , Prenatal Diagnosis , Intellectual Disability/genetics , Limb Deformities, Congenital/genetics , Ultrasonography, PrenatalABSTRACT
BACKGROUND: The torcular pseudomass is an incidental extra-axial midline mass located between the venous sinuses and the occipital squama in the pediatric population. Although this structure is presumed to be a developmental feature, it has not been characterized on fetal MRI. OBJECTIVE: To determine the frequency, imaging features and longitudinal in utero evolution of torcular pseudomass using fetal MRI. MATERIALS AND METHODS: We present a single-center retrospective study of fetal MRI performed at a tertiary hospital. Two independent reviewers first ordinally scored torcular pseudomass as absent, focal, crescentic or bulky based on morphology. We reviewed available follow-up fetal and postnatal MRI and further classified torcular pseudomass as stable, involuted or progressive. We also collected clinical and demographic data from electronic charts and compared them among categories, corrected for multiple comparisons. RESULTS: This study included a total of 219 fetuses with median gestational age of 28 weeks (interquartile range [IQR]: 23-32 weeks). Torcular pseudomass was absent in 8% (n=17) and present as a focal mass in 15% (n=33), crescentic in 45% (n=98) and bulky in 32% (n=71) of the cases. Median gestational age was statistically different among torcular pseudomass categories and inversely associated with size. Follow-up fetal MRI was available in 9.6% (n=21) of cases (median interval 4 weeks; IQR: 2-9 weeks) and torcular pseudomass in these cases was classified as stable in 67% (n=14), involuted in 29% (n=6) and progressive in 5% (n=1). Postnatal MRI was available in 5% (n=12) of fetuses (median interval 11.5 months, IQR: 3-17 months), and among these cases torcular pseudomass was classified as stable in 33% (n=4) and involuted in 67% (n=8). CONCLUSION: Torcular pseudomass is highly prevalent in the fetal population and shows a natural tendency to involute, even in utero, although it sometimes persists during early infanthood.
Subject(s)
Fetus , Magnetic Resonance Imaging , Child , Humans , Infant , Female , Pregnancy , Gestational Age , Retrospective Studies , Magnetic Resonance Imaging/methods , Ultrasonography, PrenatalABSTRACT
PURPOSE: There is limited data concerning neuroimaging findings and longitudinal evaluation of familial cerebral cavernous malformations (FCCM) in children. Our aim was to study the natural history of pediatric FCCM, with an emphasis on symptomatic hemorrhagic events and associated clinical and imaging risk factors. METHODS: We retrospectively reviewed all children diagnosed with FCCM in four tertiary pediatric hospitals between January 2010 and March 2022. Subjects with first available brain MRI and [Formula: see text] 3 months of clinical follow-up were included. Neuroimaging studies were reviewed, and clinical data collected. Annual symptomatic hemorrhage risk rates and cumulative risks were calculated using survival analysis and predictors of symptomatic hemorrhagic identified using regression analysis. RESULTS: Forty-one children (53.7% males) were included, of whom 15 (36.3%) presenting with symptomatic hemorrhage. Seven symptomatic hemorrhages occurred during 140.5 person-years of follow-up, yielding a 5-year annual hemorrhage rate of 5.0% per person-year. The 1-, 2-, and 5-year cumulative risks of symptomatic hemorrhage were 7.3%, 14.6%, and 17.1%, respectively. The latter was higher in children with prior symptomatic hemorrhage (33.3%), CCM2 genotype (33.3%), and positive family history (20.7%). Number of brainstem (adjusted hazard ratio [HR] = 1.37, P = 0.005) and posterior fossa (adjusted HR = 1.64, P = 0.004) CCM at first brain MRI were significant independent predictors of prospective symptomatic hemorrhage. CONCLUSION: The 5-year annual and cumulative symptomatic hemorrhagic risk in our pediatric FCCM cohort equals the overall risk described in children and adults with all types of CCM. Imaging features at first brain MRI may help to predict potential symptomatic hemorrhage at 5-year follow-up.
Subject(s)
Hemangioma, Cavernous, Central Nervous System , Child , Female , Humans , Male , Cerebral Hemorrhage/etiology , Hemangioma, Cavernous, Central Nervous System/diagnostic imaging , Hemangioma, Cavernous, Central Nervous System/genetics , Hemangioma, Cavernous, Central Nervous System/complications , Hemorrhage , Magnetic Resonance Imaging , Prospective Studies , Retrospective StudiesABSTRACT
PURPOSE: The aim of the study was to assess the prevalence and characteristics of spinal cord cavernous malformations (SCCM) and intraosseous spinal vascular malformations (ISVM) in a pediatric familial cerebral cavernous malformation (FCCM) cohort and evaluate clinico-radiological differences between children with (SCCM +) and without (SCCM-) SCCM. METHODS: All patients with a pediatric diagnosis of FCCM evaluated at three tertiary pediatric hospitals between January 2010 and August 2021 with [Formula: see text] 1 whole spine MR available were included. Brain and spine MR studies were retrospectively evaluated, and clinical and genetic data collected. Comparisons between SCCM + and SCCM- groups were performed using student-t/Mann-Whitney or Fisher exact tests, as appropriate. RESULTS: Thirty-one children (55% boys) were included. Baseline spine MR was performed (mean age = 9.7 years) following clinical manifestations in one subject (3%) and as a screening strategy in the remainder. Six SCCM were detected in five patients (16%), in the cervico-medullary junction (n = 1), cervical (n = 3), and high thoracic (n = 2) regions, with one appearing during follow-up. A tendency towards an older age at first spine MR (P = 0.14) and [Formula: see text] 1 posterior fossa lesion (P = 0.13) was observed in SCCM + patients, lacking statistical significance. No subject demonstrated ISVM. CONCLUSION: Although rarely symptomatic, SCCM can be detected in up to 16% of pediatric FCCM patients using diverse spine MR protocols and may appear de novo. ISVM were instead absent in our cohort. Given the relative commonality of asymptomatic SCCM, serial screening spine MR should be considered in FCCM starting in childhood.
Subject(s)
Hemangioma, Cavernous, Central Nervous System , Vascular Malformations , Child , Female , Hemangioma, Cavernous, Central Nervous System/diagnostic imaging , Hemangioma, Cavernous, Central Nervous System/genetics , Humans , Magnetic Resonance Imaging/methods , Male , Retrospective Studies , Spinal Cord/pathology , Spine , SyndromeABSTRACT
INTRODUCTION: IgG4-related disease (IgG4-RD) is characterized by the growth of pseudotumors, which can affect almost every organ. Elevated serum IgG4 levels are present in only two-thirds of the patients and are not specific. Diagnosis is difficult and is usually based on a biopsy. CLINICAL CASE: A 39-year-old man presented complaints of low back pain and fever. A renal computed tomography (CT) scan revealed a voluminous mass next to the right kidney and a biopsy showed an inflammatory process and excluded a neoplasm. A follow-up CT scan at four months revealed total regression without any treatment. Three years later, the patient presented with diplopia and right proptosis. MRI of the orbits revealed a retro-ocular mass; biopsy excluded a malignant process. Infectious, autoimmune or paraneoplastic diseases were also excluded. Although the patient's IgG4 serum levels were normal, histopathological reobservation of the renal biopsy revealed IgG4-positive plasma cells, thus confirming the diagnosis. The patient was prescribed a daily dose of 40 mg of prednisolone and regression of the right orbital lesion was observed. DISCUSSION: IgG4-RD is a rare and recently described condition. Most anatomic pathology laboratories do not routinely test for it. Spontaneous pseudotumor remission is possible, even when associated with the renal phenotype, although this has not been described until now.
Subject(s)
Immunoglobulin G4-Related Disease , Adult , Biopsy , Diagnosis, Differential , Humans , Immunoglobulin G , Immunoglobulin G4-Related Disease/complications , Immunoglobulin G4-Related Disease/diagnosis , Kidney , MaleABSTRACT
Macrocephaly affects up to 5% of the pediatric population and is defined as an abnormally large head with an occipitofrontal circumference (OFC) >2 standard deviations (SD) above the mean for a given age and sex. Taking into account that about 2-3% of the healthy population has an OFC between 2 and 3 SD, macrocephaly is considered as "clinically relevant" when OFC is above 3 SD. This implies the urgent need for a diagnostic workflow to use in the clinical setting to dissect the several causes of increased OFC, from the benign form of familial macrocephaly and the Benign enlargement of subarachnoid spaces (BESS) to many pathological conditions, including genetic disorders. Moreover, macrocephaly should be differentiated by megalencephaly (MEG), which refers exclusively to brain overgrowth, exceeding twice the SD (3SD-"clinically relevant" megalencephaly). While macrocephaly can be isolated and benign or may be the first indication of an underlying congenital, genetic, or acquired disorder, megalencephaly is most likely due to a genetic cause. Apart from the head size evaluation, a detailed family and personal history, neuroimaging, and a careful clinical evaluation are crucial to reach the correct diagnosis. In this review, we seek to underline the clinical aspects of macrocephaly and megalencephaly, emphasizing the main differential diagnosis with a major focus on common genetic disorders. We thus provide a clinico-radiological algorithm to guide pediatricians in the assessment of children with macrocephaly.
Subject(s)
Moyamoya Disease , White Matter , Brain , Child , Child, Preschool , China , Female , Humans , Magnetic Resonance Imaging , Moyamoya Disease/diagnostic imaging , White Matter/diagnostic imagingABSTRACT
Malformations of cortical development are a group of rare disorders commonly manifesting with developmental delay, cerebral palsy or seizures. The neurological outcome is extremely variable depending on the type, extent and severity of the malformation and the involved genetic pathways of brain development. Neuroimaging plays an essential role in the diagnosis of these malformations, but several issues regarding malformations of cortical development definitions and classification remain unclear. The purpose of this consensus statement is to provide standardized malformations of cortical development terminology and classification for neuroradiological pattern interpretation. A committee of international experts in paediatric neuroradiology prepared systematic literature reviews and formulated neuroimaging recommendations in collaboration with geneticists, paediatric neurologists and pathologists during consensus meetings in the context of the European Network Neuro-MIG initiative on Brain Malformations (https://www.neuro-mig.org/). Malformations of cortical development neuroimaging features and practical recommendations are provided to aid both expert and non-expert radiologists and neurologists who may encounter patients with malformations of cortical development in their practice, with the aim of improving malformations of cortical development diagnosis and imaging interpretation worldwide.
Subject(s)
Cerebral Cortex/diagnostic imaging , Consensus , Malformations of Cortical Development/classification , Malformations of Cortical Development/diagnostic imaging , Practice Guidelines as Topic/standards , Europe , Humans , Magnetic Resonance Imaging/classification , Magnetic Resonance Imaging/standards , Malformations of Cortical Development/therapy , Neuroimaging/classification , Neuroimaging/standardsABSTRACT
Down syndrome (DS), or trisomy 21, is the leading genetic cause of intellectual incapacity worldwide, with a reported incidence of about 1 in 1,000 to 1 in 1,100 live births. Besides the several commonly known physical features characteristic of this syndrome present at birth, DS may additionally affect every organ system. In addition, despite the large number of published papers concerning this syndrome, there is scarce literature focusing specifically in the typical neuroimaging features associated with this condition. The aim of this paper is to review and systematize the distinctive characteristics and abnormalities of the central nervous system, head and neck, and spine present in DS patients that should actively be searched for and evaluated by radiologists and/or neuroradiologists.
Subject(s)
Lipoma , Female , Fetus , Humans , Magnetic Resonance Imaging , Pregnancy , Pregnancy Trimester, ThirdABSTRACT
PURPOSE: This paper aims to analyze the contribution of mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD) in the detection of microstructural abnormalities in amyotrophic lateral sclerosis (ALS) and to evaluate the degree of agreement between structural and functional changes through concomitant diffusion tensor imaging (DTI), transcranial magnetic stimulation (TMS), and clinical assessment. METHODS: Fourteen patients with ALS and 11 healthy, age- and gender-matched controls were included. All participants underwent magnetic resonance imaging including DTI. TMS was additionally performed in ALS patients. Differences in the distribution of DTI-derived measures were assessed using tract-based spatial statistical (TBSS) and volume of interest (VOI) analyses. Correlations between clinical, imaging, and neurophysiological findings were also assessed through TBSS. RESULTS: ALS patients showed a significant increase in AD and MD involving the corticospinal tract (CST) and the pre-frontal white matter in the right posterior limb of the internal capsule (p < 0.05) when compared to the control group using TBSS, confirmed by VOI analyses. VOI analyses also showed increased AD in the corpus callosum (p < 0.05) in ALS patients. Fractional anisotropy (FA) in the right CST correlated significantly with upper motor neuron (UMN) score (r = - 0.79, p < 0.05), and right abductor digiti minimi central motor conduction time was highly correlated with RD in the left posterior internal capsule (r = - 0.81, p < 0.05). No other significant correlation was found. CONCLUSION: MD, AD, and RD, besides FA, are able to further detect and characterize neurodegeneration in ALS. Furthermore, TMS and DTI appear to have a role as complementary diagnostic biomarkers of UMN dysfunction.
Subject(s)
Amyotrophic Lateral Sclerosis/diagnostic imaging , Amyotrophic Lateral Sclerosis/physiopathology , Diffusion Tensor Imaging/methods , Adult , Aged , Anisotropy , Case-Control Studies , Female , Humans , Male , Middle Aged , Transcranial Magnetic StimulationABSTRACT
INTRODUCTION: Severity of vascular damage of white matter may predict hemorrhagic transformation (HT). We assess the relationship between leukoaraiosis (LA) severity and the type of hemorrhagic transformation in elderly patients treated with thrombolysis. METHODS: We retrospectively analyzed the clinical data and pretreatment magnetic resonance imaging (MRI) of 180 consecutive ischemic stroke patients aged over 75 years. LA severity was graded according to the Fazekas scale, and acute diffusion-weighted-imaging (DWI) lesion volumes were semi-automatically outlined. Predictors of hemorrhagic infarction (HI) and parenchymal hemorrhage (PH) were identified using logistic regression analysis and exact multinomial logistic analysis. RESULTS: HT occurred in 31 patients (17 %). Baseline National Institute of Health Stroke Score (NIHSS; p = 0.008), severe LA (p = 0.02), and diffusion lesion volume (p = 0.02) were predictors of HT in univariable logistic regression. Adjusted to lesion volume and baseline NIHSS score, exact multinomial logistic analysis showed that severe LA was the only independent predictor of parenchymal hemorrhage (p = 0.03). CONCLUSION: In elderly patients, LA severity better predicts parenchymal hemorrhage than infarct size.
Subject(s)
Cerebral Hemorrhage/epidemiology , Cerebral Hemorrhage/therapy , Leukoaraiosis/diagnostic imaging , Leukoaraiosis/epidemiology , Magnetic Resonance Imaging/statistics & numerical data , Thrombolytic Therapy/statistics & numerical data , Aged, 80 and over , Causality , Cerebral Hemorrhage/diagnostic imaging , Comorbidity , Female , France/epidemiology , Humans , Leukoaraiosis/prevention & control , Magnetic Resonance Imaging/methods , Male , Prevalence , Prognosis , Reproducibility of Results , Risk Factors , Sensitivity and Specificity , Treatment OutcomeABSTRACT
OBJECTIVE: To identify the clinical and radiologic features that should raise suspicion for the pseudotumoral presentation of cerebral amyloid angiopathy-related inflammation (CAA-I). METHODS: We retrospectively reviewed the characteristics of 5 newly diagnosed and 23 previously reported patients in whom the CAA-I imaging findings were initially interpreted as CNS neoplasms. RESULTS: Most cases (85%) occurred in patients >60 years old. The clinical characteristics at presentation included subacute cognitive decline (50%), confusion (32%), focal deficits (32%), seizures (25%), and headaches (21%). Brain MRI demonstrated infiltrative white matter lesions that exhibited a loco-regional mass effect without parenchymal enhancement (93%). In general, these findings were interpreted as low-grade glioma or lymphoma. Eighteen patients (64%) underwent a biopsy, which was nondiagnostic in 4 patients (14%), and 6 patients (21%) underwent a surgical resection. The primary reason for the misinterpretation of the imaging findings was the absence of T2*-weighted gradient recalled echo (T2*-GRE) sequences on initial imaging (89%). When subsequently performed (39%), the T2*-GRE sequences demonstrated multiple characteristic cortical and subcortical microhemorrhages in all cases. Perfusion MRI and magnetic resonance spectroscopy (MRS), which were performed on a subset of patients, indicated markedly reduced relative cerebral blood flow and a normal metabolic ratio. CONCLUSION: The identification of one or several nonenhancing space-occupying lesions, especially in elderly patients presenting with cognitive impairment, should raise suspicion for the pseudotumoral presentation of CAA-I and lead to T2*-GRE sequences. Perfusion MRI and MRS appear to be useful techniques for the differential diagnosis of this entity.
Subject(s)
Cerebral Amyloid Angiopathy/diagnosis , Granuloma, Plasma Cell/diagnosis , Aged , Aged, 80 and over , Cerebral Amyloid Angiopathy/complications , Cerebral Amyloid Angiopathy/psychology , Diagnosis, Differential , Granuloma, Plasma Cell/complications , Granuloma, Plasma Cell/psychology , Humans , Inflammation/complications , Inflammation/diagnosis , Inflammation/psychology , Male , Middle Aged , Retrospective StudiesABSTRACT
BACKGROUND AND PURPOSE: Our aim was to explore whether the mismatch in lesion visibility between b1000 and b0 images is an alternative to mismatch between diffusion-weighted imaging and fluid-attenuated inversion recovery imaging as a surrogate marker of stroke age. METHODS: We analyzed patients from the European multicenter I-KNOW database. Independent readers assessed the visibility of ischemic lesions of the anterior circulation on b0 and fluid-attenuated inversion recovery imaging images. The signal-intensity ratio for b0 and fluid-attenuated inversion recovery imaging images was also measured from the segmented stroke lesion volume on b1000 images. RESULTS: This study included 112 patients (68 men; mean age, 67.4 years) with stroke onset within (n=85) or longer than (n=27) 4.5 hours. b1000-b0 mismatch identified patients within 4.5 hours of stroke onset with moderate sensitivity (72.9%; 95% confidence interval [CI], 63.5-82.4) and specificity (70.4%; 95% CI, 53.2-87.6), high positive predictive value (88.6%; 95% CI, 81.1-96.0), and low negative predictive value (45.2%; 95% CI, 30.2-60.3). Global comparison of b1000-b0 mismatch with diffusion-weighted imaging-fluid-attenuated inversion recovery imaging mismatch (considered the imaging gold standard) indicated high sensitivity (85.9%; 95% CI, 78.2-93.6), specificity (91.2%; 95% CI, 76.3-98.1), and positive predictive value (96.7%; 95% CI, 88.0-99.1) and moderate negative predictive value (73.8%; 95% CI, 60.5-87.1) of this new approach. b0 signal-intensity ratio (r=0.251; 95% CI, 0.069-0.417; P=0.008) was significantly although weakly correlated with delay between stroke onset and magnetic resonance imaging. CONCLUSIONS: b1000-b0 mismatch may identify patients with ischemic stroke of the within 4.5 hours of onset with high positive predictive value, perhaps constituting an alternative imaging tissue clock.
Subject(s)
Diffusion Magnetic Resonance Imaging/methods , Stroke/diagnosis , Aged , Diffusion Magnetic Resonance Imaging/standards , Female , Humans , Male , Middle Aged , Prospective Studies , Retrospective Studies , Single-Blind Method , Stroke/metabolismABSTRACT
Delayed leukoencephalopathy is an uncommon complication of hypoxic-ischemic events of different etiologies, including carbon monoxide intoxication. We present a case of a 40-year-old male patient who was admitted with rapidly progressive neurocognitive and behavioral deficits. There was a history of accidental carbon monoxide intoxication one month before, presenting with loss of consciousness and short hospitalization, followed by a complete clinical recovery. The imaging studies in the delayed phase depicted confluent, symmetric supra-tentorial white matter lesions in keeping with diffuse demyelinization. Restricted diffusion and metabolite abnormalities in magnetic resonance proton spectroscopy were also seen. The diagnosis of CO-mediated delayed post-hypoxic leukoencephalopathy was assumed after exclusion of other mimickers. Hyperbaric oxygen therapy was tentatively performed and the patient had a favorable clinical and radiological evolution.