RESUMO
Background Assessment of appropriate brain myelination on T1- and T2-weighted MRI scans is based on gestationally corrected age (GCA) and requires subjective visual inspection of the brain with knowledge of normal myelination milestones. Purpose To develop a convolutional neural network (CNN) capable of estimating neonatal and infant GCA based on brain myelination on MRI scans. Materials and methods In this retrospective study from one academic medical center, brain MRI scans of patients aged 0-25 months with reported normal myelination were consecutively collected between January 1995 and June 2019. The GCA at MRI was manually calculated. After exclusion criteria were applied, T1- and T2-weighted MRI scans were preprocessed with skull stripping, linear registration, z scoring for normalization, and downsampling. A three-dimensional regression CNN was trained to predict GCA using mean absolute error (MAE) as its loss function. Attention maps were calculated using layer-wise relevance propagation. Models were validated on an external test set from the National Institutes of Health (NIH). Model MAEs were compared using Kruskal-Wallis and Mann-Whitney tests. Results A total of 518 neonates and infants (mean GCA, 67 weeks ± 33 [SD], 56% male) was included, comprising 469 T1-, 438 T2-, and 389 T1- and T2-weighted studies. Across 10 runs, MAEs of T1-, T2-, and T1- and T2-weighted networks were 9.8 ± 2.3, 9.1 ± 1.9, and 7.7 ± 1.7 weeks, respectively. Attention map analysis demonstrated increased network attention to the cerebellum, posterior white matter, and basal ganglia signal in neonates with GCA of less than 40 weeks and the anterior white matter signal in infants with GCA of more than 120 weeks, corresponding to the known progression of myelination. The T1- and T2-weighted network tested on the external NIH test set had an MAE of 9.1 weeks, which was reduced to 5.9 weeks with further training using half the external test set (P < .001). Conclusion A three-dimensional convolutional neural network can predict the gestationally corrected age of neonates and infants aged 0-25 months based on brain myelination patterns on T1- and T2-weighted MRI scans. © RSNA, 2022 Online supplemental material is available for this article.
Assuntos
Aprendizado Profundo , Lactente , Recém-Nascido , Humanos , Masculino , Feminino , Estudos Retrospectivos , Imageamento por Ressonância Magnética/métodos , Encéfalo/diagnóstico por imagem , NeuroimagemRESUMO
Although congenital oral masses are rare, they are readily detectable during fetal US screening. Most congenital oral masses are benign, but some may cause mechanical airway obstruction, resulting in poor outcomes at delivery. The radiologist's ability to describe these abnormalities and their physiologic sequelae accurately can have a substantial effect on perinatal treatment. Furthermore, despite being rare, congenital oral lesions encountered at screening and at follow up fetal MRI provide the opportunity to make a specific diagnosis by following a simple anatomic approach. This article describes an anatomic algorithm as the framework for accurate diagnosis of congenital oral lesions. The imaging appearance of the most common congenital oral cavity neoplasms is outlined, including vascular anomalies, epulides, choristomas, congenital lingual thyroid anomalies, lingual hamartomas, and epignathi, and other conditions that mimic these at US. Also reviewed are perinatal management of masses that affect the fetal airway and the imaging features key to optimizing delivery outcomes. Online supplemental material is available for this article. ©RSNA, 2019.
Assuntos
Neoplasias Bucais/diagnóstico por imagem , Manuseio das Vias Aéreas/métodos , Cesárea/métodos , Pré-Escolar , Diagnóstico Diferencial , Tumor de Células Granulares/congênito , Tumor de Células Granulares/diagnóstico por imagem , Hamartoma/congênito , Hamartoma/diagnóstico por imagem , Hemangioma/congênito , Hemangioma/diagnóstico por imagem , Humanos , Lactente , Recém-Nascido , Tireoide Lingual/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Neoplasias Bucais/congênito , Neoplasias Bucais/embriologia , Neoplasias Bucais/patologia , Teratoma/diagnóstico por imagem , Teratoma/embriologia , Neoplasias da Língua/congênito , Neoplasias da Língua/diagnóstico por imagem , Ultrassonografia/métodos , Ultrassonografia Pré-Natal/métodos , Malformações Vasculares/diagnóstico por imagemRESUMO
Purpose To identify developmental neuroradiologic findings in a large cohort of carriers who have deletion and duplication at 16p11.2 (one of the most common genetic causes of autism spectrum disorder [ASD]) and assess how these features are associated with behavioral and cognitive outcomes. Materials and Methods Seventy-nine carriers of a deletion at 16p11.2 (referred to as deletion carriers; age range, 1-48 years; mean age, 12.3 years; 42 male patients), 79 carriers of a duplication at 16p11.2 (referred to as duplication carriers; age range, 1-63 years; mean age, 24.8 years; 43 male patients), 64 unaffected family members (referred to as familial noncarriers; age range, 1-46 years; mean age, 11.7 years; 31 male participants), and 109 population control participants (age range, 6-64 years; mean age, 25.5 years; 64 male participants) were enrolled in this cross-sectional study. Participants underwent structural magnetic resonance (MR) imaging and completed cognitive and behavioral tests. MR images were reviewed for development-related abnormalities by neuroradiologists. Differences in frequency were assessed with a Fisher exact test corrected for multiple comparisons. Unsupervised machine learning was used to cluster radiologic features and an association between clusters and cognitive and behavioral scores from IQ testing, and parental measures of development were tested by using analysis of covariance. Volumetric analysis with automated segmentation was used to confirm radiologic interpretation. Results For deletion carriers, the most prominent features were dysmorphic and thicker corpora callosa compared with familial noncarriers and population control participants (16%; P < .001 and P < .001, respectively) and a greater likelihood of cerebellar tonsillar ectopia (30.7%; P < .002 and P < .001, respectively) and Chiari I malformations (9.3%; P < .299 and P < .002, respectively). For duplication carriers, the most salient findings compared with familial noncarriers and population control participants were reciprocally thinner corpora callosa (18.6%; P < .003 and P < .001, respectively), decreased white matter volume (22.9%; P < .001, and P < .001, respectively), and increased ventricular volume (24.3%; P < .001 and P < .001, respectively). By comparing cognitive assessments to imaging findings, the presence of any imaging feature associated with deletion carriers indicated worse daily living, communication, and social skills compared with deletion carriers without any radiologic abnormalities (P < .005, P < .002, and P < .004, respectively). For the duplication carriers, presence of decreased white matter, callosal volume, and/or increased ventricle size was associated with decreased full-scale and verbal IQ scores compared with duplication carriers without these findings (P < .007 and P < .004, respectively). Conclusion In two genetically related cohorts at high risk for ASD, reciprocal neuroanatomic abnormalities were found and determined to be associated with cognitive and behavioral impairments. © RSNA, 2017 Online supplemental material is available for this article.
Assuntos
Transtorno Autístico , Encéfalo/diagnóstico por imagem , Deleção Cromossômica , Transtornos Cromossômicos , Variações do Número de Cópias de DNA/genética , Deficiência Intelectual , Imageamento por Ressonância Magnética/métodos , Adolescente , Adulto , Transtorno Autístico/diagnóstico por imagem , Transtorno Autístico/epidemiologia , Transtorno Autístico/genética , Encéfalo/patologia , Criança , Pré-Escolar , Transtornos Cromossômicos/diagnóstico por imagem , Transtornos Cromossômicos/epidemiologia , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 16/genética , Análise por Conglomerados , Estudos Transversais , Feminino , Deleção de Genes , Duplicação Gênica/genética , Humanos , Lactente , Deficiência Intelectual/diagnóstico por imagem , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/genética , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
Purpose To evaluate whether patients with neurofibromatosis type 1 (NF1)-a multisystem neurodevelopmental disorder with myriad imaging manifestations, including focal transient myelin vacuolization within the deep gray nuclei, brainstem, and cerebellum-exhibit differences in cortical and subcortical structures, particularly in subcortical regions where these abnormalities manifest. Materials and Methods In this retrospective study, by using clinically obtained three-dimensional T1-weighted MR images and established image analysis methods, 10 intracranial volume-corrected subcortical and 34 cortical regions of interest (ROIs) were quantitatively assessed in 32 patients with NF1 and 245 age- and sex-matched healthy control subjects. By using linear models, ROI cortical thicknesses and volumes were compared between patients with NF1 and control subjects, as a function of age. With hierarchic cluster analysis and partial correlations, differences in the pattern of association between cortical and subcortical ROI volumes in patients with NF1 and control subjects were also evaluated. Results Patients with NF1 exhibited larger subcortical volumes and thicker cortices of select regions, particularly the hippocampi, amygdalae, cerebellar white matter, ventral diencephalon, thalami, and occipital cortices. For the thalami and pallida and 22 cortical ROIs in patients with NF1, a significant inverse association between volume and age was found, suggesting that volumes decrease with increasing age. Moreover, compared with those in control subjects, ROIs in patients with NF1 exhibited a distinct pattern of clustering and partial correlations. Discussion Neurofibromatosis type 1 is characterized by larger subcortical volumes and thicker cortices of select structures. Most apparent within the hippocampi, amygdalae, cerebellar white matter, ventral diencephalon, thalami and occipital cortices, these neurofibromatosis type 1-associated volumetric changes may, in part, be age dependent. © RSNA, 2018 Online supplemental material is available for this article.
Assuntos
Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Imageamento Tridimensional/métodos , Imageamento por Ressonância Magnética/métodos , Neurofibromatose 1/diagnóstico por imagem , Neurofibromatose 1/patologia , Criança , Feminino , Humanos , Masculino , Estudos RetrospectivosRESUMO
The dystroglycanopathies are a heterogeneous group of conditions, with mutations in B3GALNT2 described in association with congenital muscular dystrophy. The serial prenatal MRI findings in this disorder have not been well described. We present sequential prenatal and postnatal MRI findings in a boy with compound heterozygous mutations in B3GALNT2, as well as the MRI findings of his two siblings with similar mutations. These findings provide new insight into the molecular pathogenesis and neurodevelopment of congenital muscular dystrophy.
Assuntos
Imageamento por Ressonância Magnética/métodos , Distrofias Musculares/congênito , Distrofias Musculares/diagnóstico por imagem , N-Acetilgalactosaminiltransferases/genética , Adulto , Distroglicanas , Feminino , Humanos , Recém-Nascido , Masculino , Mutação , Gravidez , Diagnóstico Pré-NatalRESUMO
Fetal neurology encompasses the full spectrum of neonatal and child neurology presentations, with complex additional layers of diagnostic and prognostic challenges unique to the specific prenatal consultation. Diverse genetic and acquired etiologies with a range of potential outcomes may be encountered. Three clinical case presentations are discussed that highlight how postnatal phenotyping and longitudinal follow-up are essential to address the uncertainties that arise in utero, after birth, and in childhood, as well as to provide continuity of care.
Assuntos
Doenças do Sistema Nervoso , Humanos , Feminino , Gravidez , Recém-Nascido , Doenças do Sistema Nervoso/diagnóstico , Masculino , Encaminhamento e Consulta , Diagnóstico Pré-Natal/métodos , Doenças Fetais/diagnóstico , LactenteRESUMO
This article provides the readers with practical guidance on how to perform fetal MR imaging, including technical considerations such as scanner field strength and use of appropriate radiofrequency receive coils, and summarizes the role, strengths, and limitations of the various MR imaging sequences. The authors review the various factors to consider in scan preparation, including study indication, timing, maternal preparation, and the creation of an institutional fetal imaging protocol. Additional factors that go into scan optimization during acquisition including prioritizing maternal comfort and ways to troubleshoot various artifacts that maybe encountered in fetal imaging are discussed.
Assuntos
Feto , Imageamento por Ressonância Magnética , Diagnóstico Pré-Natal , Humanos , Imageamento por Ressonância Magnética/métodos , Gravidez , Diagnóstico Pré-Natal/métodos , Feminino , Feto/diagnóstico por imagem , Doenças Fetais/diagnóstico por imagemRESUMO
BACKGROUND AND PURPOSE: Myelin oligodendrocyte glycoprotein-antibody associated disease (MOGAD) is an increasingly recognized cause of demyelinating disease in children. The purpose of this study is to characterize the CNS imaging manifestations of pediatric MOGAD and identify clinical and imaging variables associated with relapse. MATERIALS AND METHODS: We retrospectively identified children with serum antibody-positive MOGAD evaluated at our institution between 1997 and 2020. Clinical and demographic data were collected. MRIs of the brain, orbit, and spine at presentation and relapse were reviewed for location and pattern of abnormality. RESULTS: Among 61 cases (34 girls), mean age at presentation was 7 years (IQR 4-11). At presentation, there was imaging involvement of the brain in 78.6% (44/56), optic pathway in 55.4% (31/56), and spine in 19.6% (11/56). Brain involvement was commonly in the frontal (70.5%, 31/44) and subcortical (75%, 33/44) white matter, with involvement of the thalamus and pons in 47.7% each (21/44). Optic neuritis (ON) was commonly bilateral (80.6%, 25/31) involving intraorbital segments (77.4%, 24/31). Spinal cord lesions were typically cervical (72.7%, 8/11) and multifocal (72.7%, 8/11).The imaging patterns were age-dependent; children ≤9 years more commonly demonstrated ADEM-like imaging pattern at presentation (39.4%, 13/33) and first relapse (8/23, 34.8%), while children >9 years more commonly had ON at presentation (34.8%, 8/23, P = .001) and FLAIR-hyperintense lesions in anti-MOG-associated encephalitis with seizures at first relapse (5/18, 27.8%, P = .008). CONCLUSIONS: We describe the CNS imaging findings in pediatric MOGAD. The imaging pattern is age-dependent at presentation and first relapse. Younger age at presentation is associated with longer time to relapse.
Assuntos
Encefalite , Neurite Óptica , Humanos , Criança , Feminino , Pré-Escolar , Glicoproteína Mielina-Oligodendrócito , Estudos Retrospectivos , Encéfalo/diagnóstico por imagem , Doença Crônica , Neurite Óptica/diagnóstico por imagem , AutoanticorposRESUMO
Objectives: Mosaic gain of chromosome 1q (chr1q) has been associated with malformation of cortical development (MCD) and epilepsy. Hyaline protoplasmic astrocytopathy (HPA) is a rare neuropathologic finding seen in cases of epilepsy with MCD. The cell-type specificity of mosaic chr1q gain in the brain and the molecular signatures of HPA are unknown. Methods: We present the case of a child with pharmacoresistant epilepsy who underwent epileptic focus resections at age 3 and 5 years and was found to have mosaic chr1q gain and HPA. We performed single-nuclei RNA sequencing (snRNA-seq) of brain tissue from the second resection. Results: snRNA-seq showed increased expression of chr1q genes specifically in subsets of neurons and astrocytes. Differentially expressed genes associated with inferred chr1q gain included AKT3 and genes associated with cell adhesion or migration. A subpopulation of astrocytes demonstrated marked enrichment for synapse-associated transcripts, possibly linked to the astrocytic inclusions observed in HPA. Discussion: snRNA-seq may be used to infer the cell-type specificity of mosaic chromosomal copy number changes and identify associated gene expression alterations, which in the case of chr1q gain may involve aberrations in cell migration. Future studies using spatial profiling could yield further insights on the molecular signatures of HPA.
RESUMO
Early cortical folding and the emergence of structural brain asymmetries have been previously analyzed by neuropathology as well as qualitative analysis of magnetic resonance imaging (MRI) of fetuses and preterm neonates. In this study, we present a dedicated image analysis framework and its application for the detection of folding patterns during the critical period for the formation of many primary sulci (20-28 gestational weeks). Using structural information from in utero MRI, we perform morphometric analysis of cortical plate surface development and modeling of early folding in the normal fetal brain. First, we identify regions of the fetal brain surface that undergo significant folding changes during this developmental period and provide precise temporal staging of these changes for each region of interest. Then, we highlight the emergence of interhemispheric structural asymmetries that may be related to future functional specialization of cortical areas. Our findings complement previous descriptions of early sulcogenesis based on neuropathology and qualitative evaluation of 2D in utero MRI by accurate spatial and temporal mapping of the emergence of individual sulci as well as structural brain asymmetries. The study provides the missing starting point for their developmental trajectories and extends our understanding of normal cortical folding.
Assuntos
Mapeamento Encefálico , Encéfalo/anatomia & histologia , Encéfalo/embriologia , Feto/embriologia , Lateralidade Funcional , Imageamento por Ressonância Magnética , Feminino , Idade Gestacional , Humanos , Processamento de Imagem Assistida por Computador , Masculino , Modelos Estatísticos , GravidezRESUMO
BACKGROUND: COL4A1/A2 variants affecting the alpha 1 and 2 chains of type IV collagen are increasingly recognized as a cause of fetal and neonatal intracranial hemorrhage, porencephaly, and schizencephaly. Fetal magnetic resonance imaging (MRI) findings in COL4A1/A2-related disorders are not well characterized. METHODS: This is a retrospective case series of fetal MRI findings in eight patients with intraparenchymal hemorrhage (IPH) and COL4A1/A2 variants, five of whom have postnatal imaging and clinical follow-up. RESULTS: IPH was multifocal and bilateral in four of eight patients. IPH involved the frontal lobes in all cases and basal ganglia in six of eight. The median maximum diameter of IPH was 16 mm (range 6 to 65 mm). All patients had ventriculomegaly, and four of eight had intraventricular hemorrhage. Prenatal IPH size correlated clinically with motor outcomes, and none had clinically symptomatic recurrent hemorrhage. CONCLUSION: COL4A1/A2 variants can present with a spectrum of IPH prenatally, including small and/or unifocal IPH, as well as multifocal and bilateral IPH, involving the frontal lobes and basal ganglia. Given the wide spectrum of IPH severity seen on fetal brain MRI, genetic testing for COL4A1/A2 variants should be considered in all cases of fetal IPH.
Assuntos
Doenças Fetais , Hemorragias Intracranianas , Recém-Nascido , Feminino , Humanos , Gravidez , Estudos Retrospectivos , Hemorragias Intracranianas/diagnóstico por imagem , Hemorragias Intracranianas/genética , Hemorragia Cerebral/diagnóstico por imagem , Hemorragia Cerebral/genética , Doenças Fetais/diagnóstico por imagem , Doenças Fetais/genética , Colágeno Tipo IV/genética , Imageamento por Ressonância Magnética/métodosRESUMO
RATIONALE AND OBJECTIVES: In pediatric imaging, sedation is often necessary to obtain diagnostic quality imaging. We aim to quantify patient and imaging-specific factors associated with successful pediatric scans without anesthesia and to evaluate labor cost savings associated with our institutional Scan Without Anesthesia Program (SWAP). MATERIALS AND METHODS: Patients who participated in SWAP between 2019-2022 were identified. Chart review was conducted to obtain sociodemographic and clinical information. Radiology database was used to obtain scan duration, modality/body part of examination, and administration of contrast. Mann-Whitney U and Chi-Square tests were used for univariate analysis of factors associated with success. Multivariate logistic regression was used to evaluate independent contributions to success. Associated hospital labor cost savings were estimated using salary information obtained through publicly available resources. RESULTS: Of 731 patients, 698 had successful and 33 had unsuccessful scans (95% success rate). In univariate analysis, older age, female sex, absence of developmental delay, and administration of contrast were significantly associated with successful scans. Multivariate analyses revealed that older age, female sex, and absence of developmental delay were significant independent factors lending toward success. Imaging-related factors were not associated with outcome in multivariate analysis. Estimated labor cost savings were $139,367.80 per year for the medical center. CONCLUSION: SWAP had an overall success rate of 95%. Older age, absence of developmental delay, and female sex were independently significantly associated with successful outcome. Cost analysis reveals substantial labor cost savings to the institution compared with imaging under anesthesia.
Assuntos
Anestesia , Criança , Feminino , Humanos , Redução de Custos , Diagnóstico por Imagem , Instalações de Saúde , Hospitais , MasculinoRESUMO
Existing knowledge of growth patterns in the living fetal human brain is based upon in utero imaging studies by magnetic resonance imaging (MRI) and ultrasound, which describe overall growth and provide mainly qualitative findings. However, formation of the complex folded cortical structure of the adult brain requires, in part, differential rates of regional tissue growth. To better understand these local tissue growth patterns, we applied recent advances in fetal MRI motion correction and computational image analysis techniques to 40 normal fetal human brains covering a period of primary sulcal formation (20-28 gestational weeks). Growth patterns were mapped by quantifying tissue locations that were expanding more or less quickly than the overall cerebral growth rate, which reveal increasing structural complexity. We detected increased local relative growth rates in the formation of the precentral and postcentral gyri, right superior temporal gyrus, and opercula, which differentiated between the constant growth rate in underlying cerebral mantle and the accelerating rate in the cortical plate undergoing folding. Analysis focused on the cortical plate revealed greater volume increases in parietal and occipital regions compared to the frontal lobe. Cortical plate growth patterns constrained to narrower age ranges showed that gyrification, reflected by greater growth rates, was more pronounced after 24 gestational weeks. Local hemispheric volume asymmetry was located in the posterior peri-Sylvian area associated with structural lateralization in the mature brain. These maps of fetal brain growth patterns construct a spatially specific baseline of developmental biomarkers with which to correlate abnormal development in the human.
Assuntos
Padronização Corporal/fisiologia , Córtex Cerebral/embriologia , Feto/embriologia , Imageamento por Ressonância Magnética/métodos , Neurogênese/fisiologia , Organogênese/fisiologia , Córtex Cerebral/fisiologia , Feminino , Feto/fisiologia , Humanos , GravidezRESUMO
Tensor based morphometry (TBM) is a powerful approach to analyze local structural changes in brain anatomy. However, conventional scalar TBM methods do not completely capture all direction specific volume changes required to model complex changes such as those during brain growth. In this paper, we describe novel TBM descriptors for studying direction-specific changes in a subject population which can be used in conjunction with scalar TBM to analyze local patterns in directionality of volume change during brain development. We also extend the methodology to provide a new approach to mapping directional asymmetry in deformation tensors associated with the emergence of structural asymmetry in the developing brain. We illustrate the use of these methods by studying developmental patterns in the human fetal brain, in vivo. Results show that fetal brain development exhibits a distinct spatial pattern of anisotropic growth. The most significant changes in the directionality of growth occur in the cortical plate at major sulci. Our analysis also detected directional growth asymmetry in the peri-Sylvian region and the medial frontal lobe of the fetal brain.
Assuntos
Mapeamento Encefálico/métodos , Encéfalo/crescimento & desenvolvimento , Imagem de Tensor de Difusão/métodos , Lateralidade Funcional/fisiologia , Interpretação de Imagem Assistida por Computador/métodos , Feto , HumanosRESUMO
PURPOSE: To determine the diagnostic accuracy of fetal magnetic resonance (MR) imaging for malformations of cortical development by using postnatal MR imaging as reference standard. MATERIALS AND METHODS: Eighty-one patients who had undergone fetal and postnatal MR imaging of the brain were identified in this institutional review board-approved, HIPAA-compliant study. Images were retrospectively reviewed in consensus by two pediatric neuroradiologists who were blinded to clinical information. Sensitivity and specificity were calculated according to retrospective review of the images and clinical reports for fetal MR images. The Fisher exact test was used to compare results for fetuses imaged before and after 24 gestational weeks and for image review versus clinical reports for fetal MR images. RESULTS: Median gestational age at fetal MR imaging was 25.0 weeks (range, 19.71-38.14 weeks). Postnatal MR imaging depicted 13 cases of polymicrogyria, three cases of schizencephaly, and 15 cases of periventricular nodular heterotopia. Sensitivity and specificity of fetal MR imaging were 85% and 100%, respectively, for polymicrogyria; 100% each for schizencephaly; and 73% and 92%, respectively, for heterotopia. When heterotopia was seen in two planes, specificity was 100% and sensitivity was 67%. Sensitivity for heterotopia decreased to 44% for fetuses younger than 24 weeks. According to reports for fetal MR images, prospective sensitivity and specificity, respectively, were 85% and 99% for polymicrogyria, 100% and 99% for schizencephaly, and 40% and 91% for heterotopia. CONCLUSION: Fetal MR imaging had the highest sensitivity for polymicrogyria and schizencephaly. Specificity was 100% for all cortical malformations when the abnormality was seen in two planes. Sensitivity for heterotopia was lower for fetuses younger than 24 weeks. Knowledge of the gestational age is important, especially for counseling patients about heterotopia.
Assuntos
Imageamento por Ressonância Magnética/métodos , Malformações do Desenvolvimento Cortical/diagnóstico , Neuroimagem/métodos , Adulto , Diagnóstico Diferencial , Feminino , Idade Gestacional , Humanos , Gravidez , Estudos Retrospectivos , Sensibilidade e EspecificidadeRESUMO
To date, growth of the human fetal cerebellum has been estimated primarily from linear measurements from ultrasound and 2D magnetic resonance imaging (MRI). In this study, we use 3D analytical methods to develop normative growth trajectories for the cerebellum in utero. We measured cerebellar volume, linear dimensions, and local surface curvature from 3D reconstructed MRI of the human fetal brain (N = 46). We found that cerebellar volume increased approximately 7-fold from 20 to 31 gestational weeks. The better fit of the exponential curve (R (2) = 0.96) compared to the linear curve (R (2) = 0.92) indicated acceleration in growth. Within-subject cerebellar and cerebral volumes were highly correlated (R (2) = 0.94), though the cerebellar percentage of total brain volume increased from approximately 2.4% to 3.7% (R (2) = 0.63). Right and left hemispheric volumes did not significantly differ. Transcerebellar diameter, vermal height, and vermal anterior to posterior diameter increased significantly at constant rates. From the local curvature analysis, we found that expansion along the inferior and superior aspects of the hemispheres resulted in decreased convexity, which is likely due to the physical constraints of the dura surrounding the cerebellum and the adjacent brainstem. The paired decrease in convexity along the inferior vermis and increased convexity of the medial hemisphere represents development of the paravermian fissure, which becomes more visible during this period. In this 3D morphometric analysis of the human fetal cerebellum, we have shown that cerebellar growth is accelerating at a greater pace than the cerebrum and described how cerebellar growth impacts the shape of the structure.
Assuntos
Cerebelo/anatomia & histologia , Cerebelo/embriologia , Adulto , Feminino , Desenvolvimento Fetal/fisiologia , Idade Gestacional , Humanos , Processamento de Imagem Assistida por Computador , Imageamento Tridimensional , Imageamento por Ressonância Magnética , Idade Materna , Gravidez , Ultrassonografia Pré-Natal/métodos , Adulto JovemRESUMO
BACKGROUND: Although seizures in neonates are common and often due to acute brain injury, 10-15% are unprovoked from congenital brain malformations. A better understanding of the risk of neonatal-onset epilepsy by the type of brain malformation is essential for counseling and monitoring. METHODS: In this retrospective cohort study, we evaluated 132 neonates with congenital brain malformations and their risk of neonatal-onset epilepsy. Malformations were classified into one of five categories based on imaging patterns on prenatal or postnatal imaging. Infants were monitored with continuous video EEG (cEEG) for encephalopathy and paroxysmal events in addition to abnormal neuroimaging. RESULTS: Seventy-four of 132 (56%) neonates underwent EEG monitoring, and 18 of 132 (14%) were diagnosed with neonatal-onset epilepsy. The highest prevalence of epilepsy was in neonates with disorders of neuronal migration/organization (9/34, 26%; 95% confidence interval [CI] = 13-44%), followed by disorders of early prosencephalic development (6/38, 16%; 95% CI = 6-31%), complex total brain malformations (2/16, 13%; 95% CI = 2-38%), and disorders of midbrain/hindbrain malformations (1/30, 3%; 95% CI = 0-17%). Of neonates with epilepsy, 5 of 18 (28%) had only electrographic seizures, 13 of 18 (72%) required treatment with two or more antiseizure medicines (ASMs), and 7 of 18 (39%) died within the neonatal period. CONCLUSION: Our results demonstrate that disorders of neuronal migration/organization represent the highest-risk group for early-onset epilepsy. Seizures are frequently electrographic only, require treatment with multiple ASMs, and portend a high mortality rate. These results support American Clinical Neurophysiology Society recommendations for EEG monitoring during the neonatal period for infants with congenital brain malformations.
Assuntos
Encéfalo/anormalidades , Epilepsia/etiologia , Doenças do Recém-Nascido/etiologia , Malformações do Sistema Nervoso/complicações , Movimento Celular/fisiologia , Eletroencefalografia , Epilepsia/epidemiologia , Feminino , Humanos , Recém-Nascido , Doenças do Recém-Nascido/epidemiologia , Masculino , Malformações do Sistema Nervoso/epidemiologia , Prevalência , Estudos RetrospectivosRESUMO
Childhood ataxia may be due to multifactorial causes of impairment in the coordination of movement and balance. Acutely presenting ataxia in children may be due to infectious, inflammatory, toxic, ischemic, or traumatic etiology. Intermittent or episodic ataxia in children may be manifestations of migraine, benign positional vertigo, or intermittent metabolic disorders. Nonprogressive childhood ataxia suggests a congenital brain malformation or early prenatal or perinatal brain injury, and progressive childhood ataxia indicates inherited causes or acquired posterior fossa lesions that result in gradual cerebellar dysfunction. CT and MRI of the central nervous system are the usual modalities used in imaging children presenting with ataxia, based on the clinical presentation. This document provides initial imaging guidelines for a child presenting with acute ataxia with or without a history of recent trauma, recurrent ataxia with interval normal neurological examination, chronic progressive ataxia, and chronic nonprogressive ataxia. The ACR Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision process support the systematic analysis of the medical literature from peer reviewed journals. Established methodology principles such as Grading of Recommendations Assessment, Development, and Evaluation or GRADE are adapted to evaluate the evidence. The RAND/UCLA Appropriateness Method User Manual provides the methodology to determine the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances in which peer reviewed literature is lacking or equivocal, experts may be the primary evidentiary source available to formulate a recommendation.
Assuntos
Meios de Contraste , Sociedades Médicas , Humanos , Criança , Medicina Baseada em Evidências , Ataxia/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodosRESUMO
The hippocampal formation plays an important role in learning and memory; however, data on its development in utero in humans are limited. This study was performed to evaluate hippocampal development in healthy fetuses using 3D reconstructed MRI. A cohort of 20 healthy pregnant women underwent prenatal MRI at a median GA of 24.9 wk (range, 21.3-31.9 wk); six of the women also had a second fetal MRI performed at a 6-wk interval. Routine 2D ultrafast T2-weighted images were used to reconstruct a 3D volume image, which was then used to manually segment the right and left hippocampi. Total hippocampal volume was calculated for each subject and compared against GA. There was a linear increase in total hippocampal volume with increasing GA (p < 0.001). For subjects scanned twice, there was an increase in hippocampal size on the second fetal MRI (p = 0.0004). This represents the first volumetric study of fetal hippocampal development in vivo. This normative volumetric data will be helpful for future comparison studies of suspected developmental abnormalities of hippocampal structure and function.
Assuntos
Hipocampo/embriologia , Imageamento por Ressonância Magnética , Diagnóstico Pré-Natal/métodos , Estudos de Coortes , Feminino , Idade Gestacional , Humanos , Interpretação de Imagem Assistida por Computador , Imageamento Tridimensional , Modelos Lineares , Masculino , Tamanho do Órgão , Gravidez , Valores de Referência , São FranciscoRESUMO
We present a rare prenatal diagnosis of bilateral choroid plexus papillomas by obstetrical ultrasound and fetal MRI at 20 weeks 6 days gestation. The fetus demonstrated bilateral enlarged, echogenic choroid plexus with increased Doppler flow suggestive of vascularized choroid tissue. Same-day fetal MRI demonstrated that the choroid plexus appeared enlarged bilaterally without definite hemorrhage. The combined features on ultrasound and MRI suggested bilateral choroid plexus papillomas with increased cerebrospinal fluid production, leading to ventriculomegaly and enlarged extra-axial spaces. The diagnosis was confirmed by postnatal pathology, which demonstrated WHO grade II atypical choroid plexus papillomas.