RESUMO
De novo, heterozygous, loss-of-function variants were identified in Pou domain, class 4, transcription factor 1 (POU4F1) via whole-exome sequencing in four independent probands presenting with ataxia, intention tremor, and hypotonia. POU4F1 is expressed in the developing nervous system, and mice homozygous for null alleles of Pou4f1 exhibit uncoordinated movements with newborns being unable to successfully right themselves to feed. Head magnetic resonance imaging of the four probands was reviewed and multiple abnormalities were noted, including significant cerebellar vermian atrophy and hypertrophic olivary degeneration in one proband. Transcriptional activation of the POU4F1 p.Gln306Arg protein was noted to be decreased when compared with wild type. These findings suggest that heterozygous, loss-of-function variants in POU4F1 are causative of a novel ataxia syndrome.
Assuntos
Ataxia/genética , Hipotonia Muscular/genética , Fator de Transcrição Brn-3A/genética , Tremor/genética , Adulto , Ataxia/complicações , Ataxia/diagnóstico , Ataxia/patologia , Criança , Pré-Escolar , Feminino , Haploinsuficiência , Humanos , Imageamento por Ressonância Magnética , Masculino , Hipotonia Muscular/complicações , Hipotonia Muscular/diagnóstico , Mutação de Sentido Incorreto , Estudos Retrospectivos , Síndrome , Tremor/complicações , Tremor/diagnóstico , Estados Unidos , Sequenciamento do Exoma , Adulto JovemRESUMO
Plastic surgeons are frequently consulted to evaluate concerns about a patient's skull. Imaging studies often reveal abnormalities in bone morphology, from increased porosity to sclerotic changes. While focal findings imply a benign or malignant neoplasm, the etiology of more diffuse findings can be more varied, making the correct diagnosis challenging. The present review summarizes the differential diagnosis of osseous lesions of the calvarium that affect the bone and contribute to changes seen on imaging studies.
Assuntos
Osteólise/diagnóstico por imagem , Osteoporose/diagnóstico por imagem , Osteosclerose/diagnóstico por imagem , Crânio/diagnóstico por imagem , Doenças Ósseas Metabólicas/diagnóstico por imagem , Diagnóstico Diferencial , Humanos , Imageamento por Ressonância Magnética , Osteólise/etiologia , Osteoporose/etiologia , Osteosclerose/etiologia , Tomografia Computadorizada por Raios XRESUMO
In vivo morphological study of the human habenula, a pair of small epithalamic nuclei adjacent to the dorsomedial thalamus, has recently gained significant interest for its role in reward and aversion processing. However, segmenting the habenula from in vivo magnetic resonance imaging (MRI) is challenging due to the habenula's small size and low anatomical contrast. Although manual and semi-automated habenula segmentation methods have been reported, the test-retest reproducibility of the segmented habenula volume and the consistency of the boundaries of habenula segmentation have not been investigated. In this study, we evaluated the intra- and inter-site reproducibility of in vivo human habenula segmentation from 3T MRI (0.7-0.8 mm isotropic resolution) using our previously proposed semi-automated myelin contrast-based method and its fully-automated version, as well as a previously published manual geometry-based method. The habenula segmentation using our semi-automated method showed consistent boundary definition (high Dice coefficient, low mean distance, and moderate Hausdorff distance) and reproducible volume measurement (low coefficient of variation). Furthermore, the habenula boundary in our semi-automated segmentation from 3T MRI agreed well with that in the manual segmentation from 7T MRI (0.5 mm isotropic resolution) of the same subjects. Overall, our proposed semi-automated habenula segmentation showed reliable and reproducible habenula localization, while its fully-automated version offers an efficient way for large sample analysis.
Assuntos
Habenula/anatomia & histologia , Imageamento por Ressonância Magnética/métodos , Neuroimagem/métodos , Adulto , Feminino , Habenula/diagnóstico por imagem , Humanos , Masculino , Adulto JovemRESUMO
The habenula consists of a pair of small epithalamic nuclei located adjacent to the dorsomedial thalamus. Despite increasing interest in imaging the habenula due to its critical role in mediating subcortical reward circuitry, in vivo neuroimaging research targeting the human habenula has been limited by its small size and low anatomical contrast. In this work, we have developed an objective semi-automated habenula segmentation scheme consisting of histogram-based thresholding, region growing, geometric constraints, and partial volume estimation steps. This segmentation scheme was designed around in vivo 3 T myelin-sensitive images, generated by taking the ratio of high-resolution T1w over T2w images. Due to the high myelin content of the habenula, the contrast-to-noise ratio with the thalamus in the in vivo 3T myelin-sensitive images was significantly higher than the T1w or T2w images alone. In addition, in vivo 7 T myelin-sensitive images (T1w over T2*w ratio images) and ex vivo proton density-weighted images, along with histological evidence from the literature, strongly corroborated the in vivo 3 T habenula myelin contrast used in the proposed segmentation scheme. The proposed segmentation scheme represents a step toward a scalable approach for objective segmentation of the habenula suitable for both morphological evaluation and habenula seed region selection in functional and diffusion MRI applications.
Assuntos
Mapeamento Encefálico/métodos , Habenula/anatomia & histologia , Processamento de Imagem Assistida por Computador/métodos , Bainha de Mielina , Adulto , Feminino , Humanos , Aumento da Imagem/métodos , Imageamento por Ressonância Magnética , MasculinoRESUMO
BACKGROUND: Early infantile Krabbe disease is rapidly fatal, but hematopoietic stem cell transplantation (HSCT) may improve outcomes if performed soon after birth. New York State began screening all newborns for Krabbe disease in 2006. METHODS: Infants with abnormal newborn screen results for Krabbe disease were referred to specialty-care centers. Newborns found to be at high risk for Krabbe disease underwent a neurodiagnostic battery to determine the need for emergent HSCT. RESULTS: Almost 2 million infants were screened. Five infants were diagnosed with early infantile Krabbe disease. Three died, two from HSCT-related complications and one from untreated disease. Two children who received HSCT have moderate to severe developmental delays. Forty-six currently asymptomatic children are considered to be at moderate or high risk for development of later-onset Krabbe disease. CONCLUSIONS: These results show significant HSCT-associated morbidity and mortality in early infantile Krabbe disease and raise questions about its efficacy when performed in newborns diagnosed through newborn screening. The unanticipated identification of "at risk" children introduces unique ethical and medicolegal issues. New York's experience raises questions about the risks, benefits, and practicality of screening newborns for Krabbe disease. It is imperative that objective assessments be made on an ongoing basis as additional states begin screening for this disorder.Genet Med 18 12, 1235-1243.
Assuntos
Leucodistrofia de Células Globoides/genética , Leucodistrofia de Células Globoides/terapia , Programas de Rastreamento , Triagem Neonatal , Feminino , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Humanos , Lactente , Recém-Nascido , Leucodistrofia de Células Globoides/diagnóstico , Leucodistrofia de Células Globoides/mortalidade , New York , Fatores de RiscoRESUMO
Novel, single-nucleotide mutations were identified in the mitochondrial methionyl amino-acyl tRNA synthetase gene (MARS2) via whole exome sequencing in two affected siblings with developmental delay, poor growth, and sensorineural hearing loss.We show that compound heterozygous mutations c.550C>T:p.Gln 184* and c.424C>T:p.Arg142Trp in MARS2 lead to decreased MARS2 protein levels in patient lymphoblasts. Analysis of respiratory complex enzyme activities in patient fibroblasts revealed decreased complex I and IV activities. Immunoblotting of patient fibroblast and lymphoblast samples revealed reduced protein levels of NDUFB8 and COXII, representing complex I and IV, respectively. Additionally, overexpression of wild-type MARS2 in patient fibroblasts increased NDUFB8 and COXII protein levels. These findings suggest that recessive single-nucleotide mutations in MARS2 are causative for a new mitochondrial translation deficiency disorder with a primary phenotype including developmental delay and hypotonia. Identification of additional patients with single-nucleotide mutations in MARS2 is necessary to determine if pectus carinatum is also a consistent feature of this syndrome.
Assuntos
Deficiências do Desenvolvimento/genética , Estudos de Associação Genética , Transtornos do Crescimento/genética , Perda Auditiva Neurossensorial/genética , Heterozigoto , Metionina tRNA Ligase/genética , Polimorfismo de Nucleotídeo Único , Sequência de Aminoácidos , Substituição de Aminoácidos , Encéfalo/patologia , Pré-Escolar , Deficiências do Desenvolvimento/diagnóstico , Genes Mitocondriais , Transtornos do Crescimento/diagnóstico , Perda Auditiva Neurossensorial/diagnóstico , Humanos , Imageamento por Ressonância Magnética , Masculino , Metionina tRNA Ligase/química , Linhagem , FenótipoRESUMO
Congenital facial weakness is present in a heterogeneous group of conditions. Among them is Moebius syndrome, which has been defined as a disorder with congenital, non-progressive facial weakness and limited abduction of one or both eyes. It is typically attributed to agenesis of the abducens and facial cranial nerves. This paper details ocular motor findings of 40 subjects (23 months to 64 years; 24 females, 16 males) with congenital facial weakness: 38 presented at a Moebius Syndrome Conference and two were clinic patients. A new classification scheme of patterns based on ocular motor phenotype is presented. Of 40 subjects, 37 had bilateral and three had unilateral facial weakness. The most common ocular motor pattern (Pattern 1, n=17, 43%) was bilateral horizontal gaze palsy with intact vertical range. Pattern 2 (n=10, 26%) was bilateral horizontal gaze palsy with variable vertical limitations. Pattern 3, which was rare, was isolated abduction deficits (n=2, 5%). Others had full motility range and did not meet minimal criteria for the diagnosis of Moebius syndrome (Pattern 4, n=10, 26%). One subject was too severely affected to characterize. Abnormal vertical smooth pursuit was present in 17 (57%) of 30 subjects: nine with Pattern 1, five with Pattern 2, and three with Pattern 4. Abnormal vertical saccades were present in 10 (34%) of 29 subjects. Vertical saccades appeared slow in nine: six with Pattern 1 and three with Pattern 2. Vertical saccades were absent in one subject with Pattern 2. Abnormal vertical optokinetic nystagmus was present in 19 (68%) of 28 subjects: 10 with Pattern 1, six with Pattern 2, one with Pattern 3, and two with Pattern 4. Reduced convergence was present in 19 (66%) of 29 subjects: nine with Pattern 1, six with Pattern 2, one with Pattern 3, and three with Pattern 4. The most common pattern of ocular motor deficit in Moebius syndrome is bilateral horizontal gaze palsy from pontine abducens nuclear defects, rather than abducens nerve involvement. Defects in the range or dynamic properties of vertical movements in subjects with congenital facial weakness may suggest involvement of ocular motor structures in the midbrain, including oculomotor nerves or nuclei, vertical supranuclear saccadic centres, and convergence neurons. Such deficits were found even in subjects with full vertical motility range. Classification of patterns of ocular motor deficits in congenital facial weakness may assist with further delineation of anatomic localization and identification of genetic deficits underlying these disorders.
Assuntos
Síndrome de Möbius/classificação , Síndrome de Möbius/fisiopatologia , Debilidade Muscular/fisiopatologia , Transtornos da Motilidade Ocular/classificação , Transtornos da Motilidade Ocular/fisiopatologia , Adolescente , Adulto , Criança , Pré-Escolar , Estudos Transversais , Movimentos Oculares , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
OBJECTIVE: We explored how a novel T1-weighted 3-dimensional (3D) fast spin echo (FSE) sequence (Cube; GE, Waukesha, Wis) might outperform conventional 2-dimensional (2D) FSE techniques for contrast-enhanced imaging of the pituitary and parasellar region. METHODS: Ninety-one patients were imaged with 3D Cube and conventional 2D FSE on a 3.0-T magnetic resonance scanner. Two neuroradiologists independently assessed images for anatomical delineation (infundibulum, optic apparatus, and cavernous sinus), degree of artifact, and confidence in lesion definition or exclusion using a 5-point scale. In addition, the readers were asked to rank overall preference. RESULTS: Readers A and B found 3D Cube to be better or equal to 2D FSE in 84% and 86% of the cases. Three-dimensional Cube provided significantly better images than 2D FSE with respect to delineation of the infundibulum (P < 0.0001), cavernous sinus (P < 0.0001), optic apparatus (P = 0.002 for reader A and P = 0.265 for reader B), and fewer artifacts at the sellar floor (P < 0.0001). Three-dimensional Cube provided greater lesion conspicuity or confidence in lesion exclusion (P < 0.0001). CONCLUSIONS: Three-dimensional Cube provides superior quality with thinner slices as well as diminished artifact and can replace conventional 2D FSE sequences for routine evaluations of the pituitary and parasellar region.
Assuntos
Aumento da Imagem/métodos , Interpretação de Imagem Assistida por Computador/métodos , Imageamento Tridimensional/métodos , Imageamento por Ressonância Magnética/métodos , Hipófise/patologia , Neoplasias Hipofisárias/patologia , Sela Túrcica/patologia , Adolescente , Adulto , Idoso , Algoritmos , Criança , Meios de Contraste , Feminino , Gadolínio , Humanos , Masculino , Pessoa de Meia-Idade , Variações Dependentes do Observador , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Marcadores de Spin , Adulto JovemRESUMO
This report discusses the syndrome of amnionic bands, anencephaly, schizencephaly and hydranencephaly, four entities whose pathogenesis includes significant injury to the fetus in utero.
Assuntos
Lesões Encefálicas/patologia , Encéfalo/anormalidades , Encéfalo/patologia , Aumento da Imagem/métodos , Malformações do Sistema Nervoso/diagnóstico , Diagnóstico Pré-Natal/métodos , Humanos , Imageamento por Ressonância Magnética/métodos , Malformações do Sistema Nervoso/embriologia , Tomografia Computadorizada por Raios X/métodosRESUMO
Abnormal neurodevelopment has been widely reported in combined methylmalonic aciduria (MMA) and homocystinuria, cblC type (cblC disease), but neurodevelopmental phenotypes in cblC have not previously been systematically studied. We sought to further characterize developmental neurology in children with molecularly-confirmed cblC. Thirteen children at our center with cblC, born since implementation of expanded newborn screening in New York State, undertook standard-of-care evaluations with a pediatric neurologist and pediatric ophthalmologist. At most recent follow-up (mean age 50 months, range 9-84 months), of twelve children with early-onset cblC, three (25%) had a history of clinical seizures and two (17%) meet criteria for microcephaly. A majority of children had hypotonia and nystagmus. Twelve out of thirteen (92%) underwent neurodevelopmental evaluation (mean age 41 months; range 9-76 months), each child tested with standardized parental interviews and, where possible, age- and disability-appropriate neuropsychological batteries. All patients showed evidence of developmental delay with the exception of one patient with a genotype predictive of attenuated disease and near-normal biochemical parameters. Neurodevelopmental deficits were noted most prominently in motor skills, with relative preservation of socialization and communication skills. Nine children with early-onset cblC underwent magnetic resonance imaging and spectroscopy (MRI/MRS) at mean age of 47 months (range 6-81 months); common abnormalities included callosal thinning, craniocaudally short pons, and increased T2 FLAIR signal in periventricular and periatrial white matter. Our study further characterizes variable neurodevelopmental phenotypes in treated cblC, and provides insights into the etiopathogenesis of disordered neurodevelopment frequently encountered in cblC. Plasma homocysteine and MMA, routinely measured at clinical follow-up, may be poor predictors for neurodevelopmental outcomes. Additional data from large, prospective, multi-center natural history studies are required to more accurately define the role of these metabolites and others, as well as that of other genetic and environmental factors in the etiopathogenesis of the neurologic components of this disorder.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Erros Inatos do Metabolismo dos Aminoácidos/fisiopatologia , Homocistinúria/diagnóstico , Homocistinúria/fisiopatologia , Fenótipo , Erros Inatos do Metabolismo dos Aminoácidos/dietoterapia , Substituição de Aminoácidos , Proteínas de Transporte/genética , Pré-Escolar , Feminino , Genótipo , Homocistinúria/dietoterapia , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Mutação , Triagem Neonatal , OxirredutasesRESUMO
BACKGROUND: Flexion-extension magnetic resonance imaging (MRI) has potential to identify cervical pathology not detectable on conventional static MRI. Our study evaluated standard quantitative and novel subjective grading scales for assessing the severity of cervical spondylotic myelopathy in dynamic sagittal MRI as well as in static axial and sagittal images. METHODS: Forty-five patients underwent both conventional and flexion-extension MRI prior to anterior cervical discectomy and fusion from C4 through C7. In addition to measuring Cobb angles and cervical canal diameter, grading scales were developed for assessment of vertebral body translation, loss of disc height, change in disc contour, deformation of cord contour, and cord edema. Data were collected at all levels from C2-C3 through C7-T1. Variations in measurements between cervical levels and from flexion through neutral to extension were assessed using Mann-Whitney, Kruskal-Wallis, and two-way ANOVA tests. RESULTS: Cervical canal diameter, vertebral translation, and posterior disc opening changed significantly from flexion to neutral to extension positions (P < 0.01). When comparing operative versus nonoperative cervical levels, significant differences were found when measuring sagittal cervical canal dimensions, vertebral translation, and posterior disc opening (P < 0.01). Degenerative loss of disc height, disc dehydration, deformation of ventral cord contour, and cord edema were all significantly increased at operative levels versus nonoperative levels (P < 0.01). CONCLUSIONS: Flexion-extension MRI demonstrated significant changes not available from conventional MRI. Subjective scales for assessing degenerative changes were significantly more severe at levels with operative cervical spondylotic myelopathy. The utility of these scales for planning surgical intervention at specific and adjacent levels is currently under investigation.
Assuntos
Doenças da Medula Espinal , Humanos , Doenças da Medula Espinal/diagnóstico por imagem , Doenças da Medula Espinal/cirurgia , Doenças da Medula Espinal/patologia , Imageamento por Ressonância Magnética/métodos , Vértebras Cervicais/diagnóstico por imagem , Vértebras Cervicais/cirurgia , Vértebras Cervicais/patologia , Pescoço/cirurgia , DiscotomiaRESUMO
Malonyl-CoA-acyl carrier protein transacylase (MCAT) is an enzyme involved in mitochondrial fatty acid synthesis (mtFAS) and catalyzes the transfer of the malonyl moiety of malonyl-CoA to the mitochondrial acyl carrier protein (ACP). Previously, we showed that loss-of-function of mtFAS genes, including Mcat, is associated with severe loss of electron transport chain (ETC) complexes in mouse immortalized skeletal myoblasts (Nowinski et al., 2020). Here, we report a proband presenting with hypotonia, failure to thrive, nystagmus, and abnormal brain MRI findings. Using whole exome sequencing, we identified biallelic variants in MCAT. Protein levels for NDUFB8 and COXII, subunits of complex I and IV respectively, were markedly reduced in lymphoblasts and fibroblasts, as well as SDHB for complex II in fibroblasts. ETC enzyme activities were decreased in parallel. Re-expression of wild-type MCAT rescued the phenotype in patient fibroblasts. This is the first report of a patient with MCAT pathogenic variants and combined oxidative phosphorylation deficiency.
Assuntos
Proteína de Transporte de Acila S-Maloniltransferase , Doenças Mitocondriais , Animais , Camundongos , Adipogenia , Encéfalo , Mitocôndrias , Doenças Mitocondriais/genética , Proteína de Transporte de Acila S-Maloniltransferase/genéticaRESUMO
The frontoinsular cortex (FI) and the anterior cingulate cortex (ACC) are thought to be involved in empathy for others' pain. However, the functional roles of FI and ACC in empathetic responses have not yet been clearly dissociated in previous studies. In this study, participants viewed color photographs depicting human body parts in painful or nonpainful situations and performed either pain judgment (painful/nonpainful) or laterality judgment (left/right) of the body parts. We found that activation of FI, rather than ACC, showed significant increase for painful compared with nonpainful images, regardless of the task requirement. Our data suggest a clear functional dissociation between FI and ACC in which FI is more domain-specific than ACC when processing empathy for pain.
Assuntos
Córtex Cerebral/fisiologia , Empatia/fisiologia , Giro do Cíngulo/fisiologia , Dor/fisiopatologia , Adulto , Mapeamento Encefálico/métodos , Feminino , Lobo Frontal/fisiologia , Humanos , Masculino , Medição da Dor/métodos , Estimulação Luminosa/métodos , Projetos Piloto , Adulto JovemRESUMO
Twenty-five years ago, when this journal was initiated, imaging of movement disorders was in its infancy. Since that time, magnetic resonance imaging has become a standard technique that is routinely performed in patients with movement disorders in order to exclude secondary causes and in some instances to provide specific information that aids in making the diagnosis of a neurodegenerative condition. Transcranial sonography is a more recent advance and is now widely employed to aid in the diagnosis of Parkinson's disease and possibly in detecting individuals in the premotor phases of the disease. Investigations are currently under way to evaluate the value of this technique in other movement disorders.
Assuntos
Imageamento por Ressonância Magnética/métodos , Transtornos dos Movimentos , Ultrassonografia Doppler Transcraniana/métodos , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , História do Século XX , História do Século XXI , Humanos , Imageamento por Ressonância Magnética/história , Transtornos dos Movimentos/diagnóstico por imagem , Transtornos dos Movimentos/história , Transtornos dos Movimentos/patologia , Cintilografia , Ultrassonografia Doppler Transcraniana/históriaRESUMO
Chordoid glioma (CG) is a rare WHO Grade II neoplasm of the anterior third ventricle. We report two cases of CG with new presentation in terms of histopathology and location: a case of CG with osseous metaplasia evident on imaging, and another CG, unusually located in the posterior portion of the third ventricle.
Assuntos
Neoplasias do Ventrículo Cerebral , Glioma , Terceiro Ventrículo , Neoplasias do Ventrículo Cerebral/diagnóstico por imagem , Neoplasias do Ventrículo Cerebral/cirurgia , Glioma/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Radiografia , Terceiro Ventrículo/diagnóstico por imagemRESUMO
BACKGROUND: Intracranial chondrosarcomas are slowly growing malignant cartilaginous tumors that are especially rare in adolescents. CASE DESCRIPTION: A 19-year-old woman with no medical history presented with symptoms of intermittent facial twitching and progressive generalized weakness for 6 months. The patient's physical examination was unremarkable. Imaging revealed a large bifrontal mass arising from the falx cerebri, with significant compression of both cerebral hemispheres and downward displacement of the corpus callosum. The patient underwent a bifrontal craniotomy for gross total resection of tumor. Neuropathologic examination revealed a bland cartilaginous lesion most consistent with low-grade chondrosarcoma. Her postoperative course was uneventful, and she was discharged to home on postoperative day 3. CONCLUSION: This is an unusual case of an extra-axial, non-skull base, low-grade chondrosarcoma presenting as facial spasm in an adolescent patient.
RESUMO
The locus coeruleus (LC) has a long-established role in the attentional and arousal response to threat, and in the emergence of pathological anxiety in pre-clinical models. However, human evidence of links between LC function and pathological anxiety has been restricted by limitations in discerning LC with current neuroimaging techniques. We combined ultra-high field 7-Tesla and 0.4 × 0.4 × 0.5 mm quantitative MR imaging with a computational LC localization and segmentation algorithm to delineate the LC in 29 human subjects including subjects with and without an anxiety or stress-related disorder. Our automated, data-driven LC segmentation algorithm provided LC delineations that corresponded well with postmortem anatomic definitions of the LC. There was variation of LC size in healthy subjects (125.7 +/- 59.3 mm3), which recapitulates histological reports. Patients with an anxiety or stress-related disorder had larger LC compared to controls (Cohen's d = 1.08, p = 0.024). Larger LC was additionally associated with poorer attentional and inhibitory control and higher anxious arousal (FDR-corrected p's<0.025), trans-diagnostically across the full sample. This study combined high-resolution and quantitative MR with a mixture of supervised and unsupervised computational techniques to provide robust, sub-millimeter measurements of the LC in vivo, which were additionally related to common psychopathology. This work has wide-reaching applications for a range of neurological and psychiatric disorders characterized by expected LC dysfunction.
Assuntos
Transtornos de Ansiedade , Interpretação de Imagem Assistida por Computador/métodos , Locus Cerúleo/anatomia & histologia , Aprendizado de Máquina , Imageamento por Ressonância Magnética/métodos , Neuroimagem/métodos , Transtornos de Estresse Pós-Traumáticos , Adulto , Transtornos de Ansiedade/diagnóstico por imagem , Transtornos de Ansiedade/patologia , Transtornos de Ansiedade/fisiopatologia , Feminino , Humanos , Locus Cerúleo/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Transtornos de Estresse Pós-Traumáticos/diagnóstico por imagem , Transtornos de Estresse Pós-Traumáticos/patologia , Transtornos de Estresse Pós-Traumáticos/fisiopatologia , Adulto JovemRESUMO
PURPOSE: To identify objective imaging characteristics that are predictors of clinical deterioration after embolization of large intracranial tumors. MATERIALS AND METHODS: This HIPAA-compliant retrospective study was approved by the institutional review board, and informed consent was waived. The records of twelve patients with large intracranial tumors who underwent embolization were analyzed for imaging characteristics that would portend acute neurologic deterioration following embolization. The degree of midbrain compression was calculated by using the cisternal angle (the angle formed at the intersection of a line drawn along the midsagittal plane and a line drawn along the anterior aspect of the cerebral peduncle). Angiograms were evaluated for the degree of pre- and postembolization tumor blush. Neurologic status before and after embolization was evaluated. The Wilcoxon signed rank test was used to compare the cisternal angles ipsilateral and contralateral to the tumor. The cisternal angle was measured in 100 control subjects with no mass lesions to evaluate its normal distribution. RESULTS: Of the 12 patients, three experienced acute clinical deterioration after embolization. A feature common to these patients was substantial preprocedure midbrain compression, as indicated by a cisternal angle of less than 25 degrees , which was significantly less than the mean angle in the control group. Another consistent risk factor was a strong initial tumor blush pattern and a major blush reduction following embolization. CONCLUSION: Cisternal angle is an objective measure of midbrain compression. The presence of a cisternal angle less than 25 degrees (indicating severe midbrain compression), strong tumor blush, and major postprocedure blush reduction are predictors of clinical deterioration after embolization.
Assuntos
Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/terapia , Cisterna Magna/patologia , Embolização Terapêutica , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias Encefálicas/diagnóstico por imagem , Angiografia Cerebral , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Medição de Risco , Estatísticas não ParamétricasRESUMO
OBJECT: The aim of this study was to determine whether high-resolution MR imaging is suitable for identifying and differentiating among the nerve root bundles of the glossopharyngeal (cranial nerve [CN] IX), vagus (CN X), and accessory nerves (CN XI) as well as any adjacent vessels. METHODS: Twenty-five patients (50 sides) underwent MR imaging using the 3D constructive interference in steady-state (CISS) sequence, as well as noncontrast and contrast-enhanced 3D time-of-flight (TOF) MR angiography. Two individuals scored these studies by consensus to determine how well these sequences displayed the neurovascular contacts and nerve root bundles of CNs IX and X and the cranial and spinal roots of CN XI. Landmarks useful for identifying each lower CN were specifically sought. RESULTS: The 3D CISS sequence successfully depicted CNs IX and X in 100% of the sides. Nerve root bundles of the cranial segment of CN XI were identified in 88% of the sides and those of the spinal segment of CN XI were noted in 93% of the sides. Landmarks useful in identifying the lower CNs included the vagal trigone, the choroid plexus of the lateral recess, the glossopharyngeal and vagal meatus, the inferior petrosal sinus, and the vertebral artery. The combined use of 3D CISS and 3D TOF sequences demonstrated neurovascular contacts at the nerve root entry or exit zones in 19% of all nerves visualized. CONCLUSIONS: The combined use of 3D CISS MR imaging and 3D TOF MR angiography (with or without contrast) successfully displays the detailed anatomy of the lower CNs and adjacent structures in vivo. These imaging sequences have the potential to aid the preoperative diagnosis of and the presurgical planning for pathology in this anatomical area.