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BACKGROUND: Genetic optic atrophies comprise phenotypically heterogenous disorders of mitochondrial function. We aimed to correlate quantitative neuroimaging findings of the optic nerves in these disorders with clinical measures. METHODS: From a retrospective database of 111 patients with bilateral optic atrophy referred for genetic testing, 15 patients diagnosed with nonglaucomatous optic atrophy of genetic origin (7 patients with pathogenic variants in OPA1, 3 patients with Wolfram syndrome, and 5 patients with Leber hereditary optic neuropathy) who had accessible magnetic resonance (MR) images of the orbits and/or brain were analyzed. The primary outcome measures of T2 short Tau inversion recovery (STIR) signal and optic nerve caliber were quantified according to a standardized protocol, normalized to internal standards, and compared between cases and controls. Inter-rater reliability was assessed and clinical features were analyzed according to MRI features. RESULTS: Compared with control patients, the 15 genetic optic atrophy patients demonstrated significantly increased T2 STIR signal (fold-change 1.6, P = 0.0016) and decreased optic nerve caliber (fold-change 0.72, P = 0.00012) after internal normalization. These metrics were reliable (inter-reader reliability correlation coefficients of 0.98 [P = 0.00036] and 0.74 [P = 0.0025] for normalized STIR and nerve caliber, respectively) and significantly correlated with visual acuity, cup-to-disc ratio, and visual field testing. CONCLUSION: Normalized optic nerve STIR signal and optic nerve caliber significantly correlate with visual acuity, cup-to-disc ratio, and perimetric performance in patients with genetic optic atrophy. A formalized protocol to characterize these differences on MRI may help to guide accurate and expedient diagnostic evaluation.
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BACKGROUND: Susceptibility-weighted imaging (SWI) is highly sensitive for intracranial hemorrhagic and mineralized lesions but is associated with long scan times. Wave controlled aliasing in parallel imaging (Wave-CAIPI) enables greater acceleration factors and might facilitate broader application of SWI, especially in motion-prone populations. OBJECTIVE: To compare highly accelerated Wave-CAIPI SWI to standard SWI in the non-sedated pediatric outpatient setting, with respect to the following variables: estimated scan time, image noise, artifacts, visualization of normal anatomy and visualization of pathology. MATERIALS AND METHODS: Twenty-eight children (11 girls, 17 boys; mean age ± standard deviation [SD] = 128.3±62 months) underwent 3-tesla (T) brain MRI, including standard three-dimensional (3-D) SWI sequence followed by a highly accelerated Wave-CAIPI SWI sequence for each subject. We rated all studies using a predefined 5-point scale and used the Wilcoxon signed rank test to assess the difference for each variable between sequences. RESULTS: Wave-CAIPI SWI provided a 78% and 67% reduction in estimated scan time using the 32- and 20-channel coils, respectively, corresponding to estimated scan time reductions of 3.5 min and 3 min, respectively. All 28 children were imaged without anesthesia. Inter-reader agreement ranged from fair to substantial (k=0.67 for evaluation of pathology, 0.55 for anatomical contrast, 0.3 for central noise, and 0.71 for artifacts). Image noise was rated higher in the central brain with wave SWI (P<0.01), but not in the peripheral brain. There was no significant difference in the visualization of normal anatomical structures and visualization of pathology between the standard and wave SWI sequences (P=0.77 and P=0.79, respectively). CONCLUSION: Highly accelerated Wave-CAIPI SWI of the brain can provide similar image quality to standard SWI, with estimated scan time reduction of 3-3.5 min depending on the radiofrequency coil used, with fewer motion artifacts, at a cost of mild but perceptibly increased noise in the central brain.
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Artefatos , Imageamento por Ressonância Magnética , Encéfalo/diagnóstico por imagem , Criança , Feminino , Humanos , Imageamento Tridimensional , Imageamento por Ressonância Magnética/métodos , Masculino , Neuroimagem/métodos , Projetos PilotoRESUMO
BACKGROUND. Anesthetic exposure in children may impact long-term neurocognitive outcomes. Therefore, minimizing pediatric MRI scan time in children under anesthesia and the associated anesthetic exposure is necessary. OBJECTIVE. The purpose of this study was to evaluate pediatric MRI scan time as a predictor of total propofol dose, considering imaging and clinical characteristics as covariates. METHODS. Electronic health records were retrospectively searched to identify MRI examinations performed from 2016 to 2019 in patients 0-18 years old who received propofol anesthetic. Brain; brain and spine; brain and abdomen; and brain, head, and neck MRI examinations were included. Demographic, clinical, and imaging data were extracted for each examination, including anesthesia maintenance phase time, MRI scan time, and normalized propofol dose. MRI scan time and propofol dose were compared between groups using a t test. A multiple linear regression with backward selection (threshold, p < .05) was used to evaluate MRI scan time as a predictor of total propofol dose, adjusting for sex, age, time between scan and study end, body part, American Society of Anesthesiologists (ASA) classification, diagnosis, magnet strength, and IV contrast medium administration as covariates. RESULTS. A total of 501 examinations performed in 426 patients (172 girls, 254 boys; mean age, 6.55 ± 4.59 [SD] years) were included. Single body part examinations were shorter than multiple body part examinations (mean, 52.7 ± 18.4 vs 89.3 ± 26.4 minutes) and required less propofol (mean, 17.7 ± 5.7 vs 26.1 ± 7.7 mg/kg; all p < .001). Among single body part examinations, a higher ASA classification, oncologic diagnosis, 1.5-T magnet, and IV contrast medium administration were associated with longer MRI scan times (all p ≤ .009) and higher propofol exposure (all p ≤ .005). In multivariable analysis, greater propofol exposure was predicted by MRI scan time (mean dose per minute of examination, 0.178 mg/kg; 95% CI, 0.155-0.200; p < .001), multiple body part examination (p = .04), and IV contrast medium administration (p = .048); lower exposure was predicted by 3-T magnet (p = .04). CONCLUSION. Anesthetic exposure during pediatric MRI can be quantified and predicted based on imaging and clinical variables. CLINICAL IMPACT. This study serves as a valuable baseline for future efforts to reduce anesthetic doses and scan times in pediatric MRI.
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Anestésicos Intravenosos/administração & dosagem , Imageamento por Ressonância Magnética/estatística & dados numéricos , Propofol/administração & dosagem , Abdome/diagnóstico por imagem , Adolescente , Anestésicos Intravenosos/efeitos adversos , Encéfalo/diagnóstico por imagem , Criança , Pré-Escolar , Feminino , Cabeça/diagnóstico por imagem , Humanos , Lactente , Recém-Nascido , Modelos Lineares , Masculino , Pescoço/diagnóstico por imagem , Propofol/efeitos adversos , Estudos Retrospectivos , Coluna Vertebral/diagnóstico por imagem , Fatores de TempoRESUMO
BACKGROUND: Fast magnetic resonance imaging (MRI) sequences are advantageous in pediatric imaging as they can lessen child discomfort, decrease motion artifact and improve scanner availability. OBJECTIVE: To evaluate the feasibility of an ultrafast wave-CAIPI (controlled aliasing in parallel imaging) MP-RAGE (magnetization-prepared rapid gradient echo) sequence for brain imaging of awake pediatric patients. MATERIALS AND METHODS: Each MRI included a standard MP-RAGE sequence and an ultrafast wave-MP-RAGE sequence. Two neuroradiologists evaluated both sequences in terms of artifacts, noise, anatomical contrast and pathological contrast. A predefined 5-point scale was used by two independent pediatric neuroradiologists. A Wilcoxon signed-rank test was used to evaluate the difference between sequences for each variable. RESULTS: Twenty-four patients (14 males; mean age: 11.5±4.5 years, range: 1 month to 17.8 years) were included. Wave-CAIPI MP-RAGE provided a 77% reduction in scan time using a 32-channel coil and a 70% reduction using a 20-channel coil. Visualization of the pathology, artifacts and pathological enhancement (including parenchymal, leptomeningeal and dural enhancement) was not significantly different between standard MP-RAGE and wave-CAIPI MP-RAGE (all P>0.05). For central (P<0.001) and peripheral (P<0.001) noise, and the evaluation of the anatomical structures (P<0.001), the observers favored standard MP-RAGE over wave-CAIPI MP-RAGE. CONCLUSION: Ultrafast brain imaging with wave-CAIPI MP-RAGE is feasible in awake pediatric patients, providing a substantial reduction in scan time at a cost of subjectively increased image noise.
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Imageamento Tridimensional , Imageamento por Ressonância Magnética , Adolescente , Artefatos , Encéfalo/diagnóstico por imagem , Criança , Humanos , MasculinoRESUMO
Heterozygous de novo variants in the eukaryotic elongation factor EEF1A2 have previously been described in association with intellectual disability and epilepsy but never functionally validated. Here we report 14 new individuals with heterozygous EEF1A2 variants. We functionally validate multiple variants as protein-damaging using heterologous expression and complementation analysis. Our findings allow us to confirm multiple variants as pathogenic and broaden the phenotypic spectrum to include dystonia/choreoathetosis, and in some cases a degenerative course with cerebral and cerebellar atrophy. Pathogenic variants appear to act via a haploinsufficiency mechanism, disrupting both the protein synthesis and integrated stress response functions of EEF1A2. Our studies provide evidence that EEF1A2 is highly intolerant to variation and that de novo pathogenic variants lead to an epileptic-dyskinetic encephalopathy with both neurodevelopmental and neurodegenerative features. Developmental features may be driven by impaired synaptic protein synthesis during early brain development while progressive symptoms may be linked to an impaired ability to handle cytotoxic stressors.
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Epilepsia Generalizada/genética , Mutação de Sentido Incorreto , Fator 1 de Elongação de Peptídeos/genética , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Teste de Complementação Genética , Haploinsuficiência , Heterozigoto , Humanos , Masculino , Estrutura Terciária de ProteínaRESUMO
Aspartate-glutamate carrier 1 (AGC1) is one of two exchangers within the malate-aspartate shuttle. AGC1 is encoded by the SLC25A12 gene. Three patients with pathogenic variants in SLC25A12 have been reported in the literature. These patients were clinically characterized by neurodevelopmental delay, epilepsy, hypotonia, cerebral atrophy, and hypomyelination; however, there has been discussion in the literature as to whether this hypomyelination is primary or secondary to a neuronal defect. Here we report a 12-year-old patient with variants in SLC25A12 and magnetic resonance imaging (MRI) at multiple ages. Novel compound heterozygous, recessive variants in SLC25A12 were identified: c.1295C>T (p.A432V) and c.1447-2_1447-1delAG. Clinical presentation is characterized by severe intellectual disability, nonambulatory, nonverbal status, hypotonia, epilepsy, spastic quadriplegia, and a happy disposition. The serial neuroimaging findings are notable for cerebral atrophy with white matter involvement, namely, early hypomyelination yet subsequent progression of myelination. The longitudinal MRI findings are most consistent with a leukodystrophy of the leuko-axonopathy category, that is, white matter abnormalities that are most suggestive of mechanisms that result from primary neuronal defects. We present here the first case of a patient with compound heterozygous variants in SLC25A12, including brain MRI findings, in the oldest individual reported to date with this neurogenetic condition.
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Estudos de Associação Genética , Predisposição Genética para Doença , Variação Genética , Imageamento por Ressonância Magnética , Proteínas de Transporte da Membrana Mitocondrial/genética , Fenótipo , Criança , Análise Mutacional de DNA , Diagnóstico Diferencial , Progressão da Doença , Estudos de Associação Genética/métodos , Estudo de Associação Genômica Ampla , Humanos , Lactente , Masculino , Proteínas de Transporte da Membrana Mitocondrial/química , Modelos Moleculares , Linhagem , Conformação Proteica , Relação Estrutura-AtividadeRESUMO
PURPOSE: Contrast-enhanced magnetic resonance imaging (MRI) is commonly used to evaluate temporomandibular joint (TMJ) disease in patients with juvenile idiopathic arthritis (JIA). However, MRI assessments have been limited by qualitative reporting, the presence of enhancement in normal joints, and a lack of standardized protocols. The purpose of the present study was to compare a quantitative MRI analysis using an enhancement ratio (ER) to a new semiquantitative system developed by Outcome Measures in Rheumatology and Clinical Trials (OMERACT). MATERIALS AND METHODS: We performed a retrospective cross-sectional study of children with JIA who had undergone TMJ MRI with gadolinium enhancement at Boston Children's Hospital. The predictor variables were demographic data (sex, age at MRI) and disease-related findings (JIA subtype and arthritis medication at MRI). The outcome variables were OMERACT scores and ER (ratio of TMJ synovium and longus capitis muscle pixel intensities). The ER was compared with the OMERACT total, inflammatory, and damage scores using Pearson's correlation analysis and multivariable linear regression. Statistical significance was evaluated using the Student t test and analysis of variance with significance set at P < .05. Inter- and intraexaminer reliability were evaluated using intraclass correlation coefficients (ICCs). RESULTS: The sample included 50 subjects (84% female) with a mean age of 12.7 ± 3.9 years and 124 MRI scans. The mean ER was 2.5 ± 0.9 (normal, <1.55). The mean OMERACT total was 4.9 ± 3.3. Controlling for age, sex, JIA subtype, and medication, for every 1-U increase in ER, the OMERACT increased by 3.11 for the total (P < .001), 1.01 for the inflammatory (P < .001), and 0.86 for the damage (P < .001) scores. The intra- and interrater consistency was better for the ER (ICC, 0.83 and 0.96, respectively) than for OMERACT (ICC, 0.77 and 0.35, respectively). CONCLUSIONS: Quantitative evaluation of TMJ synovial enhancement using the ER is easier to score and has superior intra- and interrater agreement; however, it can only assess inflammation. Semiquantitative assessment of TMJ using the OMERACT adds data about chronic changes. Using both systems might provide the most accurate assessment of JIA status.
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Artrite Juvenil , Articulação Temporomandibular/diagnóstico por imagem , Adolescente , Artrite Juvenil/diagnóstico por imagem , Boston , Criança , Meios de Contraste , Estudos Transversais , Feminino , Gadolínio , Humanos , Imageamento por Ressonância Magnética , Masculino , Reprodutibilidade dos Testes , Estudos RetrospectivosAssuntos
Acidentes por Quedas , Traumatismos do Nascimento/diagnóstico , Encéfalo/patologia , Maus-Tratos Infantis/diagnóstico , Hemorragias Intracranianas/diagnóstico por imagem , Traumatismos do Nascimento/complicações , Transtornos da Coagulação Sanguínea/diagnóstico , Encéfalo/diagnóstico por imagem , Diagnóstico Diferencial , Humanos , Lactente , Hemorragias Intracranianas/etiologia , Imageamento por Ressonância Magnética , Masculino , Tomografia Computadorizada por Raios XRESUMO
Cerebral X-linked adrenoleukodystrophy is a devastating neurodegenerative disorder caused by mutations in the ABCD1 gene, which lead to a rapidly progressive cerebral inflammatory demyelination in up to 60% of affected males. Selective brain endothelial dysfunction and increased permeability of the blood-brain barrier suggest that white matter microvascular dysfunction contributes to the conversion to cerebral disease. Applying a vascular model to conventional dynamic susceptibility contrast magnetic resonance perfusion imaging, we demonstrate that lack of ABCD1 function causes increased capillary flow heterogeneity in asymptomatic hemizygotes predominantly in the white matter regions and developmental stages with the highest probability for conversion to cerebral disease. In subjects with ongoing inflammatory demyelination we observed a sequence of increased capillary flow heterogeneity followed by blood-brain barrier permeability changes in the perilesional white matter, which predicts lesion progression. These white matter microvascular alterations normalize within 1 year after treatment with haematopoietic stem cell transplantation. For the first time in vivo, our studies unveil a model to assess how ABCD1 alters white matter microvascular function and explores its potential as an earlier biomarker for monitoring disease progression and response to treatment.
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Membro 1 da Subfamília D de Transportadores de Cassetes de Ligação de ATP/genética , Adrenoleucodistrofia/diagnóstico por imagem , Microcirculação , Substância Branca/irrigação sanguínea , Adolescente , Adrenoleucodistrofia/genética , Adrenoleucodistrofia/terapia , Doenças Assintomáticas , Barreira Hematoencefálica/metabolismo , Estudos de Casos e Controles , Circulação Cerebrovascular , Criança , Pré-Escolar , Transplante de Células-Tronco Hematopoéticas , Hemizigoto , Humanos , Angiografia por Ressonância Magnética , Imageamento por Ressonância Magnética , Masculino , Mutação , Permeabilidade , Substância Branca/diagnóstico por imagem , Adulto JovemRESUMO
Mutations in the colony stimulating factor 1 receptor (CSF1R) have recently been discovered as causal for hereditary diffuse leukoencephalopathy with axonal spheroids. We identified a novel, heterozygous missense mutation in CSF1R [c.1990G > A p.(E664K)] by exome sequencing in five members of a family with hereditary diffuse leukoencephalopathy with axonal spheroids. Three affected siblings had characteristic white matter abnormalities and presented with progressive neurological decline. In the fourth affected sibling, early progression halted after allogeneic haematopoietic stem cell transplantation from a related donor. Blood spot DNA from this subject displayed chimerism in CSF1R acquired after haematopoietic stem cell transplantation. Interestingly, both parents were unaffected but the mother's blood and saliva were mosaic for the CSF1R mutation. Our findings suggest that expression of wild-type CSF1R in some cells, whether achieved by mosaicism or chimerism, may confer benefit in hereditary diffuse leukoencephalopathy with axonal spheroids and suggest that haematopoietic stem cell transplantation might have a therapeutic role for this disorder.
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Leucoencefalopatias/genética , Mosaicismo , Receptor de Fator Estimulador de Colônias de Macrófagos/genética , Adulto , Idoso de 80 Anos ou mais , Quimerismo , Feminino , Predisposição Genética para Doença/genética , Transplante de Células-Tronco Hematopoéticas , Humanos , Leucoencefalopatias/cirurgia , Masculino , Pessoa de Meia-Idade , Mutação de Sentido IncorretoRESUMO
AIM: Cerebellar lesions are present in approximately 30% of patients with tuberous sclerosis complex. Although several prior studies have characterized these lesions, our study provides the first description of the specific distribution of these lesions within the cerebellum and the first genotype-phenotype correlation yet to be published. METHOD: We retrospectively reviewed magnetic resonance images from 220 paediatric and adult patients with tuberous sclerosis complex (95 males, 125 females; mean age 22.7y, range 9mo-81y). Sex, age, and genotype of patients with cerebellar lesions were recorded and specific characteristics, including signal intensity, number, shape, presence of enhancement, calcification or haemorrhage, and location within the cerebellar lobules were noted. RESULTS: Fifty-eight patients (26.4%) had 106 cerebellar lesions (62 right, 44 left). The mean number of cerebellar lesions per patient was 1.8 (range 1-6). Enhancement was present in 42.4% of lesions and folial retraction in 84%. Calcification was detected in 86.8% of lesions. Patients with calcified lesions were older (mean age 21.6y) than patients without calcification (11.5y). TSC2 mutations were detected in 41/42 (97.6%) of patients with cerebellar tubers who had genetic testing and one patient had no mutation identified. None of the patients had TSC1 mutation. INTERPRETATION: We provide new information regarding cerebellar lesions in tuberous sclerosis complex: cerebellar lesions are significantly much more frequent in patients with TSC2 mutations than TSC1 mutations or patients with no mutation identified, and Crus II is the most frequent location of cerebellar lesions. New studies are needed to assess the clinical significance of these lesions.
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Cerebelo/diagnóstico por imagem , Esclerose Tuberosa/diagnóstico por imagem , Esclerose Tuberosa/genética , Proteínas Supressoras de Tumor/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Calcinose/diagnóstico por imagem , Calcinose/genética , Criança , Pré-Escolar , Feminino , Lateralidade Funcional , Estudos de Associação Genética , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Proteína 1 do Complexo Esclerose Tuberosa , Proteína 2 do Complexo Esclerose Tuberosa , Adulto JovemRESUMO
PURPOSE: The purposes of this study were to assess a novel method for quantifying temporomandibular joint (TMJ) synovial enhancement on gadolinium-enhanced magnetic resonance imaging (MRI) and to establish normative values to allow early detection of synovitis. MATERIALS AND METHODS: This is a retrospective cohort study of pediatric patients (aged 0 to 16 years) without jaw pathology who underwent MRI scans with contrast that included the TMJs. From a coronal T1-weighted image, the signal intensity within the superior and inferior joint spaces was divided by the signal intensity of the longus capitis muscle to establish a ratio by age. Intrarater reliability and inter-rater reliability were assessed. A mixed-model regression analysis was used to determine the 95% specificity threshold for normal ratios. RESULTS: Temporal and optic nerve MRI scans of 158 patients were included. Normative synovial enhancement ratios (95% specificity) thresholds were established: 1.52, 1.68, and 1.55 for superior joint space, inferior joint space, and average of both joint spaces, respectively. Intrarater and inter-rater agreement was excellent. CONCLUSIONS: A ratio of signal intensity of the TMJ synovium to the longus capitis is a reliable method to quantify enhancement controlling for time after contrast infusion and may be useful for diagnosis of TMJ synovitis.
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Imageamento por Ressonância Magnética/métodos , Sinovite/diagnóstico por imagem , Sinovite/patologia , Articulação Temporomandibular/diagnóstico por imagem , Articulação Temporomandibular/patologia , Adolescente , Criança , Pré-Escolar , Meios de Contraste , Feminino , Gadolínio DTPA , Humanos , Lactente , Masculino , Nervo Óptico/diagnóstico por imagem , Nervo Óptico/patologia , Reprodutibilidade dos Testes , Estudos Retrospectivos , Sensibilidade e EspecificidadeRESUMO
CT is considered the first-line study for acute intracranial injury in children because of its availability, detection of acute hemorrhage, and lack of sedation. An MRI study with rapidly acquired sequences can obviate the need for sedation and radiation. We compared the detection rate of rapid non-sedated brain MRI to CT for traumatic head injury in young children. We reviewed a series of children 6 years of age or less who presented to our ED during a 5-year period with head trauma and received a non-sedated brain MRI and CT within 24 h of injury. Most MRI studies were limited to triplane T2 and susceptibility sequences. Two neuroradiologists reviewed the MRIs and CTs and assessed the following findings: fracture, epidural hematoma (EDH)/subdural hematoma (SDH), subarachnoid hemorrhage (SAH), intraventricular hemorrhage (IVH), and parenchymal injury. Thirty of 33 patients had radiologically identified traumatic injuries. There was an overall agreement of 82 % between the two modalities. Skull fracture was the only injury subtype which had a statistically significant difference in detection between CT and MRI (p = 0.0001), with MRI missing 14 of 21 fractures detected on CT. While not statistically significant, MRI had a higher detection rate of EDH/SDH (p = 0.34), SAH (p = 0.07), and parenchymal injuries (p = 0.50). Non-sedated MRI has similar detection rates to CT for intracranial injury in young children presenting with acute head trauma and may be an alternative to CT in select patients.
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Traumatismos Craniocerebrais/diagnóstico por imagem , Imageamento por Ressonância Magnética , Tomografia Computadorizada por Raios X , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos RetrospectivosAssuntos
Astrocitoma/diagnóstico por imagem , Insuficiência de Crescimento/etiologia , Neoplasias Hipotalâmicas/diagnóstico por imagem , Astrocitoma/complicações , Astrocitoma/patologia , Análise Química do Sangue , Caquexia/etiologia , Diagnóstico Diferencial , Ingestão de Energia , Feminino , Humanos , Doenças Hipotalâmicas/diagnóstico , Neoplasias Hipotalâmicas/complicações , Neoplasias Hipotalâmicas/patologia , Lactente , Imageamento por Ressonância MagnéticaRESUMO
OBJECTIVE: The objective was to determine the feasibility of "rapid" magnetic resonance imaging (rMRI) versus noncontrast computed tomography (NCCT) for pediatric patients with possible traumatic brain injury and to compare the populations receiving imaging in an urban tertiary care emergency department ED. METHODS: We retrospectively reviewed the electronic medical records of ED patients younger than 19 years with possible traumatic brain injury over 4 years who received an rMRI and then age-matched with NCCT patients. Data collection and analysis included demographic and clinical variables, ED length of stay (LOS), and follow-up outcomes. RESULTS: The final cohort had 45 rMRIs and 45 NCCTs. The mean age was 2.7 years, 63% were male, and 65% sustained a fall. Age, sex, and injury mechanism were similar. Time parameters were longer for rMRI patients: ED arrival to completion of imaging (172 vs 93 minutes, P < .001) and ED LOS (266 vs 225 minutes, P = .008). The NCCT group had higher-acuity patients with higher pediatric intensive care unit admission rates (33% vs 7%, P = .002). No patients returned to the ED within 72 hours. Follow-up was available on 78% patients. No clinically significant intracranial injuries were missed. CONCLUSIONS: Rapid MRI may be a viable imaging modality for moderate-risk pediatric head injury. Although rMRI took longer to obtain during this pilot study, scan time was only 3 to 4 minutes; and LOS was only 41 minutes longer. Further integration of rMRI in patient care should decrease time variation. Future study of rMRI reliability and satisfaction is needed.
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Acidentes por Quedas , Acidentes de Trânsito , Lesões Encefálicas/diagnóstico , Tempo de Internação/estatística & dados numéricos , Imageamento por Ressonância Magnética , Tomografia Computadorizada por Raios X , Estudos de Casos e Controles , Criança , Pré-Escolar , Serviço Hospitalar de Emergência , Estudos de Viabilidade , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Fatores de TempoRESUMO
OBJECTIVE: This study aimed to describe syndromes where preoperative imaging may be essential in determining the course of the carotid arteries before velopharyngeal insufficiency (VPI) surgery and therefore affect surgical planning. METHODS: Records of children who underwent surgery for VPI between May 1, 2012, and October 30, 2013, at a tertiary care pediatric otolaryngology center were reviewed. Data collected included age at operation, preoperative and postoperative nasometry values, presence of underlying genetic disorders, and imaging findings. RESULTS: Twenty-five patients underwent 33 surgeries for VPI, with 1 posterior pharyngeal wall augmentation, 6 Furlow palatoplasties, 11 sphincter pharyngoplasties, and 15 pharyngeal flaps. Medialized carotid vasculature was identified in 5 of 25 patients (20%). Seven syndromic patients were identified, with 3 patients having 22q11.2 deletion syndrome. All patients (100%) with 22q11.2 deletion syndrome had medialized carotid arteries. Of the 4 additional syndromic children, 2 (50%) had medial internal carotid arteries, with 1 patient diagnosed with neurofibromatosis 1 and another with Prader-Willi syndrome. Both patients underwent Furlow palatoplasty. CONCLUSION: Whereas 22q11.2 deletion syndrome is recognized as an entity where a medial carotid is often present, other syndromic children may also demonstrate vascular variability. Although a larger study is needed to confirm an increased prevalence in these patients, clinicians may need a higher degree of suspicion while performing the physical examination. If examination findings are suggestive or the disease process may lend itself to this abnormality, vascular imaging can be considered as part of presurgical planning to help guide surgical technique and prevent complications.
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Artérias Carótidas/patologia , Angiografia por Ressonância Magnética/métodos , Monitorização Intraoperatória/métodos , Procedimentos Cirúrgicos Bucais/métodos , Insuficiência Velofaríngea/cirurgia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Estudos Retrospectivos , Resultado do Tratamento , Insuficiência Velofaríngea/diagnóstico , Adulto JovemRESUMO
AIM: Patients with tuberous sclerosis complex (TSC) with brain involvement usually have both tubers and subependymal nodules (SENs) and the occurrence of one lesion without the other seems to be rare. The aim of this study was to assess the specific clinical manifestations and genotype of patients with one type of lesion or the other but not both. METHOD: The magnetic resonance images of 220 patients with TSC were reviewed, and patients with either tubers or SENs, but not both, were identified. RESULTS: Out of a total of 220 patients (95 males, 125 females; mean age 22y 9mo, range 9mo-81y), six (3%) had tubers without SENs (two males; four females; mean age 34y 10mo, range 11-48y); however, no patients with SENs and without tubers were identified. No mutation was identified (NMI) in any of the six patients who underwent mutational analysis of TSC1 and TSC2. Five of the six patients had three or fewer tubers. INTERPRETATION: We found no patients with SENs but without tubers among our cohort. In all patients with tubers but without SENs, mutational studies of TSC1/TSC2 were negative, and the majority of these had three or fewer tubers. A possible mechanism for patients with NMI and an absence of SENs is a mosaicism with a first postzygotic mutation in the neuroectoderm.
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Encéfalo/patologia , Mosaicismo , Placa Neural/patologia , Esclerose Tuberosa/genética , Esclerose Tuberosa/patologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Mutação/genética , Estudos Retrospectivos , Adulto JovemRESUMO
Parry-Romberg syndrome is a rare condition characterized by progressive, hemifacial atrophy, hair loss, enophthalmos, retinal vasculopathy occasionally associated with hemicranial pain syndrome (secondary trigeminal neuralgia). The cause of the condition is unknown; however, substantial evidence suggests that vasculopathy plays a significant role in the genesis of the neurologic damage and facial lipodystrophy. Herein describes a case of Parry-Romberg syndrome treated with repetitive botulinum type A toxin injections, with almost complete resolution of severe chronic pain.
Assuntos
Toxinas Botulínicas Tipo A/uso terapêutico , Hemiatrofia Facial/tratamento farmacológico , Fármacos Neuromusculares/uso terapêutico , Hemiatrofia Facial/diagnóstico , Feminino , Humanos , Injeções Intradérmicas , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Tecnécio , Tomografia Computadorizada de Emissão de Fóton Único , Tomografia Computadorizada por Raios XRESUMO
Magnetic resonance imaging sequences such as diffusion and spectroscopy have been well studied in X-linked adrenoleukodystrophy, but no data exist on magnetic resonance perfusion imaging. Since inflammation is known to modulate the microcirculation, we investigated the hypothesis that changes in the local perfusion might be one of the earliest signs of lesion development. Twenty patients with different phenotypes of adrenoleukodystrophy and seven age-matched controls were evaluated between 2006 and 2011. Fluid attenuated inversion recovery, post-contrast T(1)-weighted and normalized dynamic susceptibility contrast magnetic resonance perfusion cerebral blood volume maps were co-registered, segmented when cerebral lesion was present, and normalized cerebral blood volume values were analysed using a Food and Drug Association approved magnetic resonance perfusion software (NordicICE). Clinical and imaging data were reviewed to determine phenotype and status of progression. All eight patients with cerebral adrenoleukodystrophy had an average 80% decrease in normalized cerebral blood volume at the core of the lesion (P < 0.0001). Beyond the leading edge of contrast enhancement cerebral perfusion varied, patients with progressive lesions showed an average 60% decrease in normalized cerebral blood volume (adults P < 0.05; children P < 0.001), while one child with arrested progression normalized cerebral blood volume in this region. In six of seven patients with cerebral adrenoleukodystrophy lesions and follow-up imaging (2-24 month interval period), we found progression of contrast enhancement into the formerly hypoperfused perilesional zone. Asymptomatic, adrenomyeloneuropathy and female heterozygote patients had no significant changes in cerebral perfusion. Our data indicate that decreased brain magnetic resonance perfusion precedes leakage of the blood-brain barrier as demonstrated by contrast enhancement in cerebral adrenoleukodystrophy and is an early sign of lesion progression.
Assuntos
Adrenoleucodistrofia/patologia , Barreira Hematoencefálica/patologia , Encéfalo/patologia , Circulação Cerebrovascular/fisiologia , Fibras Nervosas Mielinizadas/patologia , Adolescente , Adrenoleucodistrofia/fisiopatologia , Adulto , Idoso , Barreira Hematoencefálica/fisiopatologia , Encéfalo/fisiopatologia , Mapeamento Encefálico , Criança , Pré-Escolar , Progressão da Doença , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Microcirculação/fisiologia , Pessoa de Meia-IdadeRESUMO
INTRODUCTION: The contribution of radial migration lines (RMLs) to the neuroanatomical and neurocognitive phenotype of tuberous sclerosis complex (TSC) is unclear. The aim of this study was to perform a comprehensive evaluation of the neuroradiological phenotype of TSC, distinguishing RMLs from normal-appearing white matter (NAWM) using diffusion tensor imaging (DTI) and volumetric fluid-attenuated inversion recovery imaging. METHODS: Magnetic resonance images of 30 patients with TSC were evaluated. The frequencies of RMLs, tubers, and subependymal nodules (SENs) were determined for every hemispheric lobe. Cerebellar lesions and subependymal giant cell tumors were counted. DTI metrics were obtained from the NAWM of every hemispheric lobe and from the largest RML and tuber. Analyses of variance and correlations were performed to investigate the associations between neuroanatomical characteristics and relationships between RML frequency and neurocognitive outcomes. NAWM DTI metrics were compared with measurements of 16 control patients. RESULTS: A mean of 47 RMLs, 27 tubers, and 10 SENs were found per patient, and the frequencies of these lesions were strongly correlated (p < 0.001). RML fractional anisotropy and mean diffusivity were strongly inversely correlated (p = 0.003). NAWM DTI metrics were similar to the controls (p = 0.26). RML frequency was strongly associated with age of seizure onset (p = 0.003), intelligence outcomes (p = 0.01), and level of autistic features (p = 0.007). CONCLUSION: A detailed neuroradiological phenotype is presented, showing that RMLs are the most frequent neuroanatomical lesion, are responsible for white matter DTI abnormalities, and are strongly associated with age of seizure onset, intelligence outcomes, and level of autistic features.