RESUMEN
BACKGROUND AND PURPOSE: Molecular profiling is a crucial feature in the "integrated diagnosis" of CNS tumors. We aimed to determine whether radiomics could distinguish molecular types of pontine pediatric high-grade gliomas that have similar/overlapping phenotypes on conventional anatomic MR images. MATERIALS AND METHODS: Baseline MR images from children with pontine pediatric high-grade gliomas were analyzed. Retrospective imaging studies included standard precontrast and postcontrast sequences and DTI. Imaging analyses included median, mean, mode, skewness, and kurtosis of the ADC histogram of the tumor volume based on T2 FLAIR and enhancement at baseline. Histone H3 mutations were identified through immunohistochemistry and/or Sanger or next-generation DNA sequencing. The log-rank test identified imaging factors prognostic of survival from the time of diagnosis. Wilcoxon rank-sum and Fisher exact tests compared imaging predictors among groups. RESULTS: Eighty-three patients had pretreatment MR imaging and evaluable tissue sampling. The median age was 6 years (range, 0.7-17 years); 50 tumors had a K27M mutation in H3-3A, and 11, in H3C2/3. Seven tumors had histone H3 K27 alteration, but the specific gene was unknown. Fifteen were H3 wild-type. Overall survival was significantly higher in H3C2/3- compared with H3-3A-mutant tumors (P = .003) and in wild-type tumors compared with any histone mutation (P = .001). Lower overall survival was observed in patients with enhancing tumors (P = .02) compared with those without enhancement. H3C2/3-mutant tumors showed higher mean, median, and mode ADC_total values (P < .001) and ADC_enhancement (P < .004), with lower ADC_total skewness and kurtosis (P < .003) relative to H3-3A-mutant tumors. CONCLUSIONS: ADC histogram parameters are correlated with histone H3 mutation status in pontine pediatric high-grade glioma.
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Neoplasias Encefálicas , Glioma , Humanos , Histonas/genética , Estudios Retrospectivos , Glioma/diagnóstico por imagen , Glioma/genética , Imagen por Resonancia Magnética/métodos , Biología Molecular , Mutación , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patologíaRESUMEN
Monoclonal antibodies are emerging disease-modifying therapies for Alzheimer disease that require brain MR imaging for eligibility assessment as well as for monitoring for amyloid-related imaging abnormalities. Amyloid-related imaging abnormalities result from treatment-related loss of vascular integrity and may occur in 2 forms. Amyloid-related imaging abnormalities with edema or effusion are transient, treatment-induced edema or sulcal effusion, identified on T2-FLAIR. Amyloid-related imaging abnormalities with hemorrhage are treatment-induced microhemorrhages or superficial siderosis identified on T2* gradient recalled-echo. As monoclonal antibodies become more widely available, treatment screening and monitoring brain MR imaging examinations may greatly increase neuroradiology practice volumes. Radiologists must become familiar with the imaging appearance of amyloid-related imaging abnormalities, how to select an appropriate imaging protocol, and report findings in clinical practice. On the basis of clinical trial literature and expert experience from clinical trial imaging, we summarize imaging findings of amyloid-related imaging abnormalities, describe potential interpretation pitfalls, and provide recommendations for a standardized imaging protocol and an amyloid-related imaging abnormalities reporting template. Standardized imaging and reporting of these findings are important because an amyloid-related imaging abnormalities severity score, derived from the imaging findings, is used along with clinical status to determine patient management and eligibility for continued monoclonal antibody dosing.
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Enfermedad de Alzheimer , Humanos , Enfermedad de Alzheimer/diagnóstico por imagen , Encéfalo , Amiloide , Imagen por Resonancia Magnética/métodos , Anticuerpos Monoclonales/uso terapéuticoRESUMEN
Neuroradiologists play a key role in brain tumor diagnosis and management. Staying current with the latest classification systems and diagnostic markers is important to provide optimal patient care. Publication of the 2016 World Health Organization Classification of Tumors of the Central Nervous System introduced a paradigm shift in the diagnosis of CNS neoplasms. For the first time, both histologic features and genetic alterations were incorporated into the diagnostic framework, classifying and grading brain tumors. The newly published 2021 World Health Organization Classification of Tumors of the Central Nervous System, May 2021, 5th edition, has added even more molecular features and updated pathologic diagnoses. We present, summarize, and illustrate the most salient aspects of the new 5th edition. We have selected the key "must know" topics for practicing neuroradiologists.
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Neoplasias Encefálicas , Neoplasias del Sistema Nervioso Central , Encéfalo/patología , Neoplasias Encefálicas/patología , Sistema Nervioso Central , Neoplasias del Sistema Nervioso Central/diagnóstico por imagen , Humanos , Organización Mundial de la SaludRESUMEN
BACKGROUND AND PURPOSE: Selumetinib is a promising MAP (mitogen-activated protein) kinase (MEK) 1/2 inhibitor treatment for pediatric low-grade gliomas. We hypothesized that MR imaging-derived ADC histogram metrics would be associated with survival and response to treatment with selumetinib. MATERIALS AND METHODS: Children with recurrent, refractory, or progressive pediatric low-grade gliomas who had World Health Organization grade I pilocytic astrocytoma with KIAA1549-BRAF fusion or the BRAF V600E mutation (stratum 1), neurofibromatosis type 1-associated pediatric low-grade gliomas (stratum 3), or sporadic non-neurofibromatosis type 1 optic pathway and hypothalamic glioma (OPHG) (stratum 4) were treated with selumetinib for up to 2 years. Quantitative ADC histogram metrics were analyzed for total and enhancing tumor volumes at baseline and during treatment. RESULTS: Each stratum comprised 25 patients. Stratum 1 responders showed lower values of SD of baseline ADC_total as well as a larger decrease with time on treatment in ADC_total mean, mode, and median compared with nonresponders. Stratum 3 responders showed a greater longitudinal decrease in ADC_total. In stratum 4, higher baseline ADC_total skewness and kurtosis were associated with shorter progression-free survival. When all 3 strata were combined, responders showed a greater decrease with time in ADC_total mode and median. Compared with sporadic OPHG, neurofibromatosis type 1-associated OPHG had lower values of ADC_total mean, mode, and median as well as ADC_enhancement mean and median and higher values of ADC_total skewness and kurtosis at baseline. The longitudinal decrease in ADC_total median during treatment was significantly greater in sporadic OPHG compared with neurofibromatosis type 1-associated OPHG. CONCLUSIONS: ADC histogram metrics are associated with progression-free survival and response to treatment with selumetinib in pediatric low-grade gliomas.
Asunto(s)
Neoplasias Encefálicas , Glioma , Neurofibromatosis 1 , Bencimidazoles , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/tratamiento farmacológico , Neoplasias Encefálicas/genética , Niño , Imagen de Difusión por Resonancia Magnética , Glioma/diagnóstico por imagen , Glioma/tratamiento farmacológico , Glioma/genética , Humanos , Neurofibromatosis 1/diagnóstico por imagen , Neurofibromatosis 1/tratamiento farmacológico , Proteínas Proto-Oncogénicas B-rafRESUMEN
BACKGROUND AND PURPOSE: Posterior fossa tumors are the most common pediatric brain tumors. MR imaging is key to tumor detection, diagnosis, and therapy guidance. We sought to develop an MR imaging-based deep learning model for posterior fossa tumor detection and tumor pathology classification. MATERIALS AND METHODS: The study cohort comprised 617 children (median age, 92 months; 56% males) from 5 pediatric institutions with posterior fossa tumors: diffuse midline glioma of the pons (n = 122), medulloblastoma (n = 272), pilocytic astrocytoma (n = 135), and ependymoma (n = 88). There were 199 controls. Tumor histology served as ground truth except for diffuse midline glioma of the pons, which was primarily diagnosed by MR imaging. A modified ResNeXt-50-32x4d architecture served as the backbone for a multitask classifier model, using T2-weighted MRIs as input to detect the presence of tumor and predict tumor class. Deep learning model performance was compared against that of 4 radiologists. RESULTS: Model tumor detection accuracy exceeded an AUROC of 0.99 and was similar to that of 4 radiologists. Model tumor classification accuracy was 92% with an F1 score of 0.80. The model was most accurate at predicting diffuse midline glioma of the pons, followed by pilocytic astrocytoma and medulloblastoma. Ependymoma prediction was the least accurate. Tumor type classification accuracy and F1 score were higher than those of 2 of the 4 radiologists. CONCLUSIONS: We present a multi-institutional deep learning model for pediatric posterior fossa tumor detection and classification with the potential to augment and improve the accuracy of radiologic diagnosis.
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Aprendizaje Profundo , Interpretación de Imagen Asistida por Computador/métodos , Neoplasias Infratentoriales/clasificación , Neoplasias Infratentoriales/diagnóstico por imagen , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Neoplasias Infratentoriales/patología , Imagen por Resonancia Magnética/métodos , Masculino , Adulto JovenRESUMEN
BACKGROUND AND PURPOSE: Recent advances in molecular techniques have characterized distinct subtypes of diffuse intrinsic pontine gliomas. Our aim was the identification of MR imaging correlates of these subtypes. MATERIALS AND METHODS: Initial MRIs from subjects with diffuse intrinsic pontine gliomas recruited for a prospective clinical trial before treatment were analyzed. Retrospective imaging analyses included FLAIR/T2 tumor volume, tumor volume enhancing, the presence of cyst and/or necrosis, median, mean, mode, skewness, kurtosis of ADC tumor volume based on FLAIR, and enhancement at baseline. Molecular subgroups based on EGFR and MGMT mutations were established. Histone mutations were also determined (H3F3A, HIST1H3B, HIST1H3C). Univariate Cox proportional hazards regression was used to test the association of imaging predictors with overall and progression-free survival. Wilcoxon rank sum, Kruskal-Wallis, and Fisher exact tests were used to compare imaging measures among groups. RESULTS: Fifty patients had biopsy and MR imaging. The median age at trial registration was 6 years (range, 3.3-17.5 years); 52% were female. On the basis of immunohistochemical results, 48 patients were assigned to 1 of 4 subgroups: 28 in MGMT-/epidermal growth factor receptor (EGFR)-, 14 in MGMT-/EGFR+, 3 in MGMT+/EGFR-, and 3 in MGMT+/EGFR+. Twenty-three patients had histone mutations in H3F3A, 8 in HIST1H3B, and 3 in HIST1H3C. Enhancing tumor volume was near-significantly different across molecular subgroups (P = .04), after accounting for the false discovery rate. Tumor volume enhancing, median, mode, skewness, and kurtosis ADC T2-FLAIR/T2 were significantly different (P ≤ .048) between patients with H3F3A and HIST1H3B/C mutations. CONCLUSIONS: MR imaging features including enhancement and ADC histogram parameters are correlated with molecular subgroups and mutations in children with diffuse intrinsic pontine gliomas.
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Neoplasias del Tronco Encefálico/diagnóstico por imagen , Neoplasias del Tronco Encefálico/genética , Glioma Pontino Intrínseco Difuso/diagnóstico por imagen , Glioma Pontino Intrínseco Difuso/genética , Neuroimagen/métodos , Adolescente , Niño , Preescolar , Análisis Mutacional de ADN/métodos , Receptores ErbB/genética , Femenino , Histonas/genética , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Mutación , Estudios Prospectivos , Estudios RetrospectivosRESUMEN
BACKGROUND AND PURPOSE: Diffuse intrinsic pontine glioma is a lethal childhood brain cancer with dismal prognosis and MR imaging is the primary methodology used for diagnosis and monitoring. Our aim was to determine whether advanced diffusion, perfusion, and permeability MR imaging metrics predict survival and pseudoprogression in children with newly diagnosed diffuse intrinsic pontine glioma. MATERIALS AND METHODS: A clinical trial using the poly (adenosine diphosphate ribose) polymerase (PARP) inhibitor veliparib concurrently with radiation therapy, followed by maintenance therapy with veliparib + temozolomide, in children with diffuse intrinsic pontine glioma was conducted by the Pediatric Brain Tumor Consortium. Standard MR imaging, DWI, dynamic contrast-enhanced perfusion, and DSC perfusion were performed at baseline and approximately every 2 months throughout treatment. ADC histogram metrics of T2-weighted FLAIR and enhancing tumor volume, dynamic contrast-enhanced permeability metrics for enhancing tumors, and tumor relative CBV from DSC perfusion MR imaging were calculated. Baseline values, post-radiation therapy changes, and longitudinal trends for all metrics were evaluated for associations with survival and pseudoprogression. RESULTS: Fifty children were evaluable for survival analyses. Higher baseline relative CBV was associated with shorter progression-free survival (P = .02, Q = 0.089) and overall survival (P = .006, Q = 0.055). Associations of higher baseline mean transfer constant from the blood plasma into the extravascular extracellular space with shorter progression-free survival (P = .03, Q = 0.105) and overall survival (P = .03, Q = 0.102) trended toward significance. An increase in relative CBV with time was associated with shorter progression-free survival (P < .001, Q < 0.001) and overall survival (P = .004, Q = 0.043). Associations of longitudinal mean extravascular extracellular volume fraction with progression-free survival (P = .03, Q = 0.104) and overall survival (P = .03, Q = 0.105) and maximum transfer constant from the blood plasma into the extravascular extracellular space with progression-free survival (P = .03, Q = 0.102) trended toward significance. Greater increases with time were associated with worse outcomes. True radiologic progression showed greater post-radiation therapy decreases in mode_ADC_FLAIR compared with pseudoprogression (means, -268.15 versus -26.11, P = .01.) CONCLUSIONS: ADC histogram, perfusion, and permeability MR imaging metrics in diffuse intrinsic pontine glioma are useful in predicting survival and pseudoprogression.
Asunto(s)
Neoplasias del Tronco Encefálico/diagnóstico por imagen , Glioma Pontino Intrínseco Difuso/diagnóstico por imagen , Neuroimagen/métodos , Neuroimagen/normas , Adolescente , Algoritmos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Benchmarking , Bencimidazoles/administración & dosificación , Neoplasias del Tronco Encefálico/mortalidad , Neoplasias del Tronco Encefálico/terapia , Quimioradioterapia/métodos , Niño , Glioma Pontino Intrínseco Difuso/mortalidad , Glioma Pontino Intrínseco Difuso/terapia , Progresión de la Enfermedad , Femenino , Humanos , Interpretación de Imagen Asistida por Computador/métodos , Interpretación de Imagen Asistida por Computador/normas , Imagen por Resonancia Magnética/métodos , Masculino , Imagen de Perfusión/métodos , Pronóstico , Estudios Retrospectivos , Análisis de Supervivencia , Temozolomida/administración & dosificaciónRESUMEN
BACKGROUND AND PURPOSE: Accurate tumor grading is essential for treatment planning of pediatric brain tumors. We hypothesized that multiparametric analyses of a combination of permeability metrics and ADC histogram metrics would differentiate high- and low-grade tumors with high accuracy. MATERIALS AND METHODS: DTI and dynamic contrast-enhanced MR imaging using T1-mapping with flip angles of 2°, 5°, 10°, and 15°, followed by a 0.1-mmol/kg body weight gadolinium-based bolus was performed on all patients in addition to standard MR imaging. Permeability data were processed and transfer constant from the blood plasma into the extracellular extravascular space, rate constant from the extracellular extravascular space back into blood plasma, extravascular extracellular volume fraction, and fractional blood plasma volume were calculated from 3D tumor volumes. Apparent diffusion coefficient histogram metrics were calculated for 3 separate tumor volumes derived from T2-FLAIR sequences, T1 contrast-enhanced sequences, and permeability maps, respectively. RESULTS: Results from 41 patients (0.3-16.76 years of age; mean, 6.22 years) with newly diagnosed contrast-enhancing brain tumors (16 low-grade; 25 high-grade) were included in the institutional review board-approved retrospective analysis. Wilcoxon tests showed a higher transfer constant from blood plasma into extracellular extravascular space and rate constant from extracellular extravascular space back into blood plasma, and lower extracellular extravascular volume fraction (P < .001) in high-grade tumors. The mean ADCs of FLAIR and enhancing tumor volumes were significantly lower in high-grade tumors (P < .001). ROC analysis showed that a combination of extravascular volume fraction and mean ADC of FLAIR volume differentiated high- and low-grade tumors with high accuracy (area under receiver operating characteristic curve = 0.918). CONCLUSIONS: ADC histogram metrics combined with permeability metrics differentiate low- and high-grade pediatric brain tumors with high accuracy.
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Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/patología , Imagen por Resonancia Magnética/métodos , Clasificación del Tumor/métodos , Adolescente , Neoplasias Encefálicas/clasificación , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Permeabilidad , Curva ROC , Estudios RetrospectivosRESUMEN
OBJECTIVE: To assess neurodevelopmental outcome of fetuses diagnosed with callosal abnormalities after referral for ventriculomegaly. METHODS: This sub-analysis of a prospective study of 430 fetuses, which were referred for ventriculomegaly and underwent sonography and magnetic resonance imaging (MRI), included those fetuses with a diagnosis of corpus callosal abnormalities after recruitment into the main study. Between three and six radiologists independently reviewed ultrasound and MR images and recorded central nervous system (CNS) abnormalities, with final diagnoses being decided by consensus. Postnatal outcomes of fetuses with callosal abnormalities were compared between those with and those without other abnormalities. RESULTS: Callosal abnormalities were detected in 13% (58/430) of the fetuses referred with ventriculomegaly. Callosal dysgenesis was isolated in 24% (14/58) of these cases, with the remainder complicated by CNS, karyotypic or other major abnormalities. Five fetuses diagnosed prenatally as having isolated callosal abnormalities had additional CNS findings on postnatal assessment. Preconference kappa for callosal abnormalities was 0.76 for ultrasound and 0.78 for MRI, indicating that these investigations had a similar level of operator dependence. Neurodevelopmental outcome was normal or showed only mild delay that resolved in 67% (8/12) children with isolated callosal abnormalities compared to 7% (2/27) in those with non-isolated callosal abnormalities (P = 0.003). CONCLUSION: Callosal abnormalities are present in a significant proportion of fetuses with a diagnosis of ventriculomegaly. Isolated callosal abnormalities are associated with normal neurodevelopmental outcome in approximately two-thirds of fetuses.
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Agenesia del Cuerpo Calloso/diagnóstico , Ventrículos Cerebrales/anomalías , Imagen por Resonancia Magnética/métodos , Resultado del Embarazo , Ultrasonografía Prenatal/métodos , Adulto , Agenesia del Cuerpo Calloso/diagnóstico por imagen , Femenino , Humanos , Embarazo , Estudios Prospectivos , Estadísticas no ParamétricasRESUMEN
OBJECTIVES: To assess the frequency and cause of variability in diagnosis on cranial sonography and magnetic resonance imaging (MRI) in children referred following prenatal diagnosis of ventriculomegaly. METHODS: Between 19 September 2003 and 16 March 2007, 119 infants with ultrasound and/or MRI studies performed within 13 months (median, 6 days) after birth, following prenatal referral for ventriculomegaly, were studied prospectively. There were 97 infants with ultrasound results and 53 with MRI, including 31 with both. Three sonologists and three pediatric neuroradiologists interpreted the postnatal ultrasound and MRI findings, blinded to prenatal diagnosis, and a final consensus diagnosis or group of diagnoses was obtained. Ventricular sizes as well as types of and reasons for any disagreement in diagnosis were recorded. Disagreements on a per patient basis were categorized as being major when they crossed diagnostic categories and had the potential to change patient counseling. Postnatal and prenatal diagnoses were compared. RESULTS: There was prospective agreement on 42/97 (43%) ultrasound and on 9/53 (17%) MRI readings. Prospective consensus was more likely when the number of central nervous system (CNS) anomalies was lower (P < 0.001 and P = 0.002 for ultrasound and MRI, respectively). In 24/55 (44%) ultrasound and 11/44 (25%) MRI examinations with disagreement in diagnosis, there was disagreement concerning the presence of ventriculomegaly. In 22/97 (23%) ultrasound studies and 22/53 (42%) MRI studies the disagreements were potentially important. Reasons for discrepancies in the reporting of major findings included errors of observation as well as modality differences in depiction of abnormalities. In comparing prenatal with postnatal diagnoses, there were 11/97 (11%) ultrasound and 27/53 (51%) MRI examinations with newly detected major findings, the most common being migrational abnormalities, callosal dysgenesis/destruction and interval development of hemorrhage. CONCLUSION: Variability in postnatal CNS diagnosis is common after a prenatal diagnosis of ventriculomegaly. This is due in part to a lack of standardization in the definition of postnatal ventriculomegaly.
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Hidrocefalia/diagnóstico , Imagen por Resonancia Magnética/métodos , Ultrasonografía Prenatal/métodos , Análisis de Varianza , Femenino , Edad Gestacional , Humanos , Hidrocefalia/embriología , Recién Nacido , Masculino , Variaciones Dependientes del Observador , Embarazo , Diagnóstico Prenatal/métodos , Estudios ProspectivosRESUMEN
OBJECTIVE: To characterize the delivery and postnatal neurodevelopmental outcomes of fetuses referred for ventriculomegaly (VM). METHODS: Under an internal review board-approved protocol, pregnant women were referred for magnetic resonance imaging (MRI) after sonographic diagnosis of VM and classified into one of four diagnostic groups: Group 1, normal central nervous system (CNS); Group 2, isolated mild VM (10-12 mm); Group 3, isolated VM > 12 mm; and Group 4, other CNS findings. Pregnancy outcome was obtained. Follow-up visits were offered with assessment of neurodevelopmental, adaptive and neurological functioning at 6 months and 1 year and/or 2 years of age. Atrial diameter and VM group differences in developmental outcomes were evaluated using repeated measures logistic regression and Fishers exact test, respectively. RESULTS: Of 314 fetuses, 253 (81%) were liveborn and survived the neonatal period. Fetuses in Groups 4 and 3 were less likely to progress to live delivery and to survive the neonatal period (60% and 84%, respectively) than were those in Groups 2 or 1 (93% and 100%, respectively, P < 0.001). Of the 143 fetuses followed postnatally, between 41% and 61% had a Bayley Scales of Infant Development (BSID-II) psychomotor developmental index score in the delayed range (< 85) at the follow-up visits, whereas the BSID-II mental developmental index and Vineland Adaptive Behavior composite scores were generally in line with normative expectations. Among those that were liveborn, neither VM group nor prenatal atrial diameter was related to postnatal developmental outcome. CONCLUSIONS: Diagnostic category and degree of fetal VM based on ultrasound and MRI measurements are associated with the incidence of live births and thus abnormal outcome. Among those undergoing formal postnatal testing, VM grade is not associated with postnatal developmental outcome, but motor functioning is more delayed than is cognitive or adaptive functioning.
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Ventrículos Cerebrales/patología , Desarrollo Infantil/fisiología , Discapacidades del Desarrollo , Adolescente , Adulto , Ventrículos Cerebrales/diagnóstico por imagen , Discapacidades del Desarrollo/etiología , Discapacidades del Desarrollo/patología , Dilatación Patológica/diagnóstico por imagen , Dilatación Patológica/patología , Femenino , Estudios de Seguimiento , Humanos , Recién Nacido , Imagen por Resonancia Magnética/métodos , Embarazo , Resultado del Embarazo , Estudios Prospectivos , Reproducibilidad de los Resultados , Ultrasonografía Prenatal/métodos , Adulto JovenRESUMEN
While back pain presents less frequently in children than in adults, it still poses a significant clinical challenge with respect to making a firm diagnosis and developing an effective treatment plan. When children have back pain and medical attention is sought, an underlying pathology is usually suspected. Pediatric patients are evaluated, first, with a complete clinical history and examination and, second, by an imaging work-up that is based on initial findings, including the child's age and size, signs and symptoms, and suspected etiology. This article describes 1) the epidemiology of back pain in children, 2) the imaging work-up used, and 3) the correlation of imaging findings with disease entities that may cause back pain in the pediatric patient. The list of diseases giving rise to back pain is not meant to be exhaustive but rather reflective of the most commonly identified pathologies and disorders among young children and adolescents, from athletic injuries to lethal cancers.
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Dolor de Espalda/diagnóstico , Dolor de Espalda/etiología , Diagnóstico por Imagen/métodos , Enfermedades de la Médula Espinal/complicaciones , Enfermedades de la Médula Espinal/diagnóstico , Enfermedades de la Columna Vertebral/complicaciones , Enfermedades de la Columna Vertebral/diagnóstico , Adolescente , Adulto , Niño , HumanosRESUMEN
Chromosome 22q loss of heterozygosity (LOH) is the most common allelic loss in benign meningioma and is thought to be the earliest initiating event in meningioma formation. We used published data and logistic regression to evaluate the association of 22q LOH with age at diagnosis in 318 transitional, fibroblastic, and meningothelial meningiomas. After adjustment for anatomical location, the odds ratio of 22q LOH per year of age was >1 in each histological type of meningioma, and was significantly >1 in transitional and fibroblastic meningioma. This finding is compatible with involvement of the neurofibromatosis 2 tumour suppressor gene, NF2, on chromosome 22q in the high incidence of benign meningioma in the elderly.
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Cromosomas Humanos Par 22 , Pérdida de Heterocigocidad , Neoplasias Meníngeas/genética , Meningioma/genética , Neurofibromina 2/genética , Anciano , Humanos , Análisis de RegresiónRESUMEN
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by a defect in cholesterol biosynthesis, associated with mental retardation and multisystem structural abnormalities. This study investigated the prevalence of congenital CNS abnormalities by MRI in a large series of patients with SLOS and the correlation of the clinical and biochemical findings with the results of MRI and 1H MRS. Eighteen patients were studied; all underwent MRI of the brain, and 16 had 1H MRS of the cerebral white matter. The ratios choline:NAA, lipid:NAA, and lipid:choline metabolite were found to be correlated with the clinical degree of disease severity, serum total sterol ratios (cholesterol/cholesterol + 7-dehydrocholesterol + 8-dehydrocholesterol) and in two cases with the effect of cholesterol therapy. Abnormal CNS findings were noted in five patients, including callosal abnormalities (n = 4), Dandy-Walker variant (n = 1), and arachnoid cyst (n = 1). Holoprosencephaly was noted in one patient with a prevalence of 6%. Choline:NAA was elevated in seven patients. There was a statistically significant positive correlation between the lipid:choline ratio and the serum cholesterol precursor, 8-dehydrocholesterol. In two patients 1H MRS demonstrated abnormally elevated lipids prior to cholesterol therapy, which improved on therapy. The use of MRI and 1H MRS is an effective way to demonstrate brain structural abnormalities in patients with SLOS and may prove to be an effective method for the assessment of the effects of cholesterol replacement therapy in the brain.
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Encéfalo/anomalías , Encéfalo/diagnóstico por imagen , Espectroscopía de Resonancia Magnética/métodos , Síndrome de Smith-Lemli-Opitz/diagnóstico , Adolescente , Adulto , Niño , Preescolar , Colesterol/sangre , Femenino , Humanos , Hidrógeno , Lactante , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Radiografía , Cintigrafía , Estudios Retrospectivos , Índice de Severidad de la EnfermedadRESUMEN
Over the past 25 years, magnetic resonance imaging (MRI) has developed into the primary imaging tool for evaluation of the central nervous system. MRI is the essential imaging study in the twenty-first century for the evaluation of the child with a brain tumor for initial preoperative diagnosis, treatment planning and image-guided therapies. This article provides an overview of the locations and MRI features of common pediatric tumors of childhood.
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Neoplasias Encefálicas/diagnóstico , Imagen por Resonancia Magnética/métodos , Adolescente , Neoplasias Encefálicas/clasificación , Niño , Preescolar , Humanos , Lactante , Recién NacidoRESUMEN
Two twins with late infantile globoid cell leukodystrophy of Krabbe's disease were studied with conventional magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy. Brain MRI demonstrated brain atrophy with extensive bilateral symmetric abnormal T2 signal in the posterior periventricular white matter, parietal lobes, corona radiata, centrum semiovale, and splenium of the corpus callosum. Magnetic resonance imaging-guided proton magnetic resonance spectroscopy revealed prominent peaks from choline-containing compounds, total creatine, and inositols. The N-acetylaspartate peak was markedly reduced, and the choline-to-N-acetylaspartate ratio was abnormally high; in one of the twins, lactic acid was also detected. The constellation of magnetic resonance spectroscopy findings is indicative of extensive demyelination, gliosis, and loss of axons in the involved white matter; the latter two events occur in the later stages of globoid cell leukodystrophy. In conjunction with brain MRI, these magnetic resonance spectroscopy findings may alert clinicians to the possibility of leukodystrophy in children with progressive encephalopathy.
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Ácido Aspártico/análogos & derivados , Encéfalo/patología , Leucodistrofia de Células Globoides/patología , Imagen por Resonancia Magnética , Espectroscopía de Resonancia Magnética , Ácido Aspártico/análisis , Ácido Aspártico/metabolismo , Encéfalo/metabolismo , Colina/análogos & derivados , Colina/análisis , Humanos , Lactante , Leucodistrofia de Células Globoides/genética , Masculino , Gemelos MonocigóticosRESUMEN
Our aim was to determine and/or predict response to treatment of brain tumors in children using proton magnetic resonance spectro-scopic imaging (MRSI). We studied 24 patients aged 10 months to 24 years, using MRI and point-resolved spectroscopy (PRESS; TR 2000 TE 65 ms) with volume preselection and phase-encoding in two dimensions on a 1.5 T imager. Multiple logistic regression was used to establish independent predictors of active tumor growth. Biologically vital cell metabolites, such as N-acetyl aspartate and choline-containing compounds (Cho), were significantly different between tumor and control tissues (P < 0.001). The eight brain tumors which responded to radiation or chemotherapy, exhibited lower Cho (P = 0.05), higher total creatine (tCr) (P = 0.02) and lower lactate and lipid (L) (P = 0.04) than 16 tumors which were not treated (except by surgery) or did not respond to treatment. The only significant independent predictor of active tumor growth was tCr (P < 0.01). We suggest that tCr is useful in assessing response of brain tumors to treatment.
Asunto(s)
Neoplasias Encefálicas/patología , Espectroscopía de Resonancia Magnética , Adolescente , Adulto , Encéfalo/metabolismo , Encéfalo/patología , Química Encefálica , Neoplasias Encefálicas/metabolismo , Neoplasias Encefálicas/terapia , Niño , Preescolar , Femenino , Humanos , Lactante , Modelos Logísticos , Imagen por Resonancia Magnética , MasculinoRESUMEN
BACKGROUND: The filamin-1 (FLN-1) gene is responsible for periventricular nodular heterotopia (PNH), which is an X-linked dominant neuronal migration disorder. OBJECTIVE: To review the clinical and imaging findings in a series of patients with documented filamin-1 mutations. MATERIALS AND METHODS: A retrospective review of the medical records and MR studies of a series of patients with PNH and confirmed FLN-1 mutations was done. There were 16 female patients (age range: .67-71 years; mean = 28.6) with filamin-1 gene mutations. RESULTS: In six of the patients the same mutation was inherited in four generations in one pedigree. In a second pedigree, a distinct mutation was found in two patients in two generations. In a third pedigree, a third mutation was found in four patients in two generations. The remaining four patients had sporadic de novo mutations that were not present in the parents. Ten patients had seizures, and all patients had normal intelligence. In all 16 patients MR demonstrated bilateral near-continuous PNH. There were no consistent radiographic or clinical differences between patients carrying different mutations. CONCLUSION: Patients with confirmed FLN-1 gene mutations are usually female and have a distinctive MR pattern of PNH. Other female patients with this same MR pattern probably harbor FLN-1 mutations and risk transmission to their progeny. This information is important for genetic counseling.