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1.
Acta Neurochir Suppl ; 126: 237-241, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29492568

RESUMO

OBJECTIVES: Cerebrospinal fluid (CSF) and blood flows have a strong relationship during a cardiac cycle. Idiopathic intracranial hypertension (IIH) is a pathology that seems to present hemodynamic and hydrodynamic disturbance. The aim of this study was to establish CSF and blood interaction in IIH. MATERIAL AND METHODS: We retrospectively studied cerebral hydrodynamic and hemodynamic flows by phase-contrast MRI (PCMRI) in 13 IIH subjects (according Dandy's criteria) and 16 controls. We analyzed arterial peak flow, pulsatility index, and resistive index in arterial and venous compartments (PFart, PIart, RIart, PFvein, PIvein, RIvein) and measured arteriovenous and CSF peak flow and stroke volume (PFav, SVVASC, PFCSF, SVCSF). RESULTS: We found no significant difference between IIH and control groups in arterial and venous parameters. Arteriovenous flow analysis showed higher PFav and SVVASC in the IIH group than in the control group (respectively 369 ± 27 mL/min and 286 ± 47 mL/min, p = 0.02; and 1085 ± 265 µL/cardiac cycle and 801 ± 226 µL/cardiac cycle, p = 0.007). PFCSF and SVCSF were higher in the IIH group than in the control group (respectively 206 ± 50 mL/min and 126.6 ± 24.8 mL/min, p = 0.04; and 570 ± 190 µL/cardiac cycle and 430 ± 100 µL/cardiac cycle, p = 0.0007). CONCLUSION: Although no significant change was found in arterial and venous flows, we showed that a small phase shift of venous outflow might cause an increase in the arteriovenous pulsatility and an increasing brain expansion during the cardiac cycle. This arteriovenous flow increase would result in an increase of CSF flushing through the foramen magnum and an increased ICP.


Assuntos
Encéfalo/fisiopatologia , Líquido Cefalorraquidiano , Circulação Cerebrovascular/fisiologia , Pseudotumor Cerebral/fisiopatologia , Adulto , Pressão Sanguínea , Encéfalo/irrigação sanguínea , Encéfalo/diagnóstico por imagem , Estudos de Casos e Controles , Feminino , Hemodinâmica , Humanos , Hidrodinâmica , Imageamento por Ressonância Magnética , Masculino , Pseudotumor Cerebral/diagnóstico por imagem , Estudos Retrospectivos , Adulto Jovem
2.
Am J Med Genet A ; 173(11): 2923-2946, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28948695

RESUMO

Facial femoral syndrome (FFS) is a rare congenital abnormality, also known as femoral hypoplasia-unusual facies syndrome, characterized by variable degrees of femoral hypoplasia, associated with specific facial features. Other organ malformations are sometimes present. Most cases are sporadic, but rare family observations suggest genetic origin. However, no chromosomal or genetic abnormalities have ever been incriminated. We conducted a comprehensive literature review and added three new unreported observations. Through these 92 cases, authors aimed to determine sonographic signs that should direct towards diagnosis, and discuss potential genetic etiology. Diagnosis was suspected prenatally in 27.2% of cases, and maternal diabetes was found in 42.4% of patients. When fetal karyotype was available, it was normal in 97.1% of cases, but genomic variations of unknown significance were discovered in all three cases in which array comparative genomic hybridization (CGH) techniques were applied. Femoral affection defining FFS was hypoplasia in 78.3% of cases, agenesis in 12%, and both in 9.8%. Affection was bilateral in 84.8% of cases. Retrognathia was present in 65.2% of cases, cleft lip and/or palate in 63%, and other organ malformations in 53.3%. Intellectual development was normal in 79.2% of cases. Better prenatal recognition of this pathology, notably frequently associated malformations, should lead to a more precise estimation of functional prognosis. It seems likely that today's tendency to systematically employ array-CGH and exome/genome sequencing methods to investigate malformative sequences will allow the identification of a causal genetic abnormality in the near future.


Assuntos
Anormalidades Múltiplas/diagnóstico , Fêmur/anormalidades , Síndrome de Pierre Robin/diagnóstico , Diagnóstico Pré-Natal , Ultrassonografia Pré-Natal/métodos , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/fisiopatologia , Adulto , Fenda Labial/diagnóstico , Fenda Labial/diagnóstico por imagem , Fenda Labial/genética , Fenda Labial/fisiopatologia , Hibridização Genômica Comparativa , Diabetes Gestacional/diagnóstico , Diabetes Gestacional/diagnóstico por imagem , Diabetes Gestacional/fisiopatologia , Feminino , Fêmur/diagnóstico por imagem , Fêmur/fisiopatologia , Feto , Humanos , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Síndrome de Pierre Robin/diagnóstico por imagem , Síndrome de Pierre Robin/genética , Síndrome de Pierre Robin/fisiopatologia , Gravidez
3.
Neuropediatrics ; 45(4): 217-25, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24338515

RESUMO

OBJECTIVES: Reliable gradation of neonatal brain development is important for clinical investigation of neurological disorders. A prerequisite for such quantification of development is knowledge about temporal resolvability. METHODS: We hypothesized 2-week interval as the temporal resolvability of age-related templates to study macroscopic morphological brain development in the early weeks after birth. Therefore, we constructed two templates for the gestational age (GA) ranges of 39 to 40 and 41 to 42 weeks using T1-weighted magnetic resonance (MR) images. Then, we compared the spatial variation of anatomical landmarks and the average and the maximal length of spatial deformation in 30 subjects normalized to the two templates along x, y, and z directions. RESULTS: Multivariate analysis of variance (MANOVA) revealed significant difference between spatial variations of the above macroscopic features in the two age ranges. Furthermore, quantitative analysis of feature scattering yielded the same result even in features for which the null hypothesis was not rejected by MANOVA. Moreover, the same procedure was reiterated on two sets of subjects with the closer age range of 1 week (40 and 41 week's GA) and no significant difference could be detected. CONCLUSIONS: The results strengthen the hypothesis that 2-week is the temporal resolvability of age-related templates for macroscopic morphological studies of the developing brain in the early weeks after birth.


Assuntos
Córtex Cerebral/anatomia & histologia , Córtex Cerebral/crescimento & desenvolvimento , Imageamento por Ressonância Magnética , Feminino , Idade Gestacional , Humanos , Processamento de Imagem Assistida por Computador , Recém-Nascido , Masculino , Análise Multivariada , Estudos Retrospectivos
4.
Acta Radiol ; 55(5): 614-21, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24043879

RESUMO

BACKGROUND: Diffusion tensor imaging (DTI) is a useful tool for assessing changes that occur in microstructures. We have developed a novel method for region of interest (ROI) delineation in the assessment of DTI parameters in patients with normal pressure hydrocephalus (NPH). PURPOSE: To compare the standard method and our novel method in an evaluation of the impact of surgery on periventricular white matter in patients with NPH. MATERIAL AND METHODS: Ten patients with NPH underwent 3T magnetic resonance imaging (MRI; including 12-direction DTI sequences) before and after surgery. We recorded diffusion parameters (λi, the fractional anisotropy [FA], the apparent diffusion coefficient, and Dr) in the internal capsule (IC) and the body of the corpus callosum (BCC). Using the standard delineation technique, regions of interest (ROIs) were positioned according to anatomical and functional considerations and then filled with several sub-ROIs. The ROIs delineated with our novel technique (extracted as the six sub-ROIs with the lowest standard deviation for the FA) were arranged in two rows (medial and lateral), from the ventricle to the brain surface. RESULTS: The within-ROI homogeneity was higher with the novel method than with the conventional method (P<10(-4)). When the conventional delineation method was applied to the IC data, only λ2 was found to be significantly greater after surgery; in contrast, application of our novel method evidenced a significant decrease in FA and λ1 and a significant increase in λ2 (P<0.05). Both before and after surgery, the FA in the medial row of ROIs was greater than the FA in the lateral row (P<0.01). In the BCC, only λ2 and Dr varied significantly (when evaluated with the novel method). CONCLUSION: Our results show that use of a novel method of DTI data analysis may be more sensitive to local changes induced by surgical procedures. Furthermore, this novel method was able to detect the transmantle pressure gradient related to the regional stress distribution.


Assuntos
Ventrículos Cerebrais/cirurgia , Imagem de Tensor de Difusão/métodos , Hidrocefalia de Pressão Normal/cirurgia , Interpretação de Imagem Assistida por Computador/métodos , Substância Branca/cirurgia , Idoso , Anisotropia , Feminino , Humanos , Masculino , Resultado do Tratamento
5.
Acta Radiol ; 55(8): 992-9, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24136984

RESUMO

BACKGROUND: Normal-pressure hydrocephalus (NPH) and Alzheimer's disease (AD) have some similar clinical features and both involve white matter and cerebrospinal fluid (CSF) disorders. PURPOSE: To compare putative relationships between ventricular morphology, CSF flow, and white matter diffusion in AD and NPH. MATERIAL AND METHODS: Thirty patients (18 with AD and 12 with suspected NPH) were included in the study. All patients underwent a 3-Tesla MRI scan, which included phase-contrast MRI of the aqueduct (to assess the aqueductal CSF stroke volume) and a DTI session (to calculate the fractional anisotropy [FA] and apparent diffusion coefficient [ADC]) in the internal capsules). RESULTS: FA was correlated with ventricular volume in the suspected NPH population (P < 0.001; rs = 0.88), whereas the ADC was highly correlated with the aqueductal CSF stroke volume in AD (P < 0.001; rs = 0.79). CONCLUSION: Although AD and NPH both involve CSF disorders, the two diseases do not have the same impact on the internal capsules. The magnitude of the ADC is related to the aqueductal CSF stroke volume in AD, whereas FA is related to ventricular volume in NPH.


Assuntos
Doença de Alzheimer/líquido cefalorraquidiano , Doença de Alzheimer/fisiopatologia , Ventrículos Cerebrais/fisiopatologia , Hidrocefalia de Pressão Normal/líquido cefalorraquidiano , Hidrocefalia de Pressão Normal/fisiopatologia , Imageamento por Ressonância Magnética/métodos , Idoso , Anisotropia , Feminino , Humanos , Processamento de Imagem Assistida por Computador/métodos , Masculino , Fibras Nervosas Mielinizadas/patologia , Estudos Prospectivos
6.
Eur J Radiol ; 177: 111580, 2024 Jun 17.
Artigo em Inglês | MEDLINE | ID: mdl-38905801

RESUMO

BACKGROUND: Neuroblastoma accounts for 15 % of cancer deaths in children. Complete surgical resection is associated with a higher overall survival rate but also a higher morbidity rate. An international group of experts has defined a nomenclature of image-defined risk factors (IDRFs) for the determination of operability and the anticipation of reasonably foreseeable complications of surgery. However, there is no consensus on the optimal imaging modality (CT or MRI) for the assessment of IDRFs. The objective of the present study was to determine the non-inferiority of MRI vs. CT in the preoperative assessment of abdominopelvic neuroblastoma. The secondary objective was to assess the contribution of gadolinium contrast enhancement. METHODS: All children diagnosed with abdominopelvic neuroblastoma and whose preoperative work-up included a contrast-enhanced CT or MRI scan of the abdomen and pelvis between January 2014 and January 2023 were included. To evaluate the IDRFs, all the images were reviewed in three steps: (i) non-contrast MRI scans, (ii) both non-contrast and contrast-enhanced MRI scans, and (iii) contrast-enhanced CT scans. RESULTS: Twenty-five patients were found to be eligible, and fifteen were included. The mean time interval between MRI and preoperative CT was 23 days. In all patients, the identified IDRFs were similar for all three imaging modalities. Fourteen patients underwent full resection of the tumour. The surgical reports were fully consistent with the IDRFs described on CT and/or MRI. CONCLUSION: A high-resolution three-dimensional T2 MRI sequence agreed fully with contrast-enhanced CT for the detection of IDRFs. Contrast-enhanced MRI did not add value. However, surgeons will need time to adapt to this MRI-based approach and learn how to interpret the results with confidence.

7.
Neuroradiology ; 55(12): 1447-54, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24150596

RESUMO

INTRODUCTION: The cerebrospinal fluid (CSF) plays a major role in the physiology of the central nervous system. The continuous turnover of CSF is mainly attributed to the highly vascularized choroid plexus (CP) located in the cerebral ventricles which represent a complex interface between blood and CSF. We propose a method for evaluating CP functionality in vivo using perfusion MR imaging and establish the age-related changes of associated parameters. METHODS: Fifteen patients with small intracranial tumors were retrospectively studied. MR Imaging was performed on a 3T MR Scanner. Gradient-echo echo planar images were acquired after bolus injection of gadolinium-based contrast agent (CA). The software developed used the combined T1- and T2-effects. The decomposition of the relaxivity signals enables the calculation of the CP capillary permeability (K2). The relative cerebral blood volume (rCBV), mean transit time (MTT), and signal slope decrease (SSD) were also calculated. RESULTS: The mean permeability K2 of the extracted CP was 0.033+/-0.18 s(-1). K2 and SSD significantly decreased with subject's age whereas MTT significantly increased with subject's age. No significant correlation was found for age-related changes in rCBV and rCBF. CONCLUSION: The decrease in CP permeability is in line with the age-related changes in CSF secretion observed in animals. The MTT increase indicates significant structural changes corroborated by microscopy studies in animals or humans. Overall, DSC MR-perfusion enables an in vivo evaluation of the hemodynamic state of CP. Clinical applications such as neurodegenerative diseases could be considered thanks to specific functional studies of CP.


Assuntos
Envelhecimento/fisiologia , Velocidade do Fluxo Sanguíneo/fisiologia , Permeabilidade Capilar/fisiologia , Circulação Cerebrovascular/fisiologia , Plexo Corióideo/fisiologia , Angiografia por Ressonância Magnética/métodos , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Adulto Jovem
8.
Fluids Barriers CNS ; 17(1): 1, 2020 Jan 14.
Artigo em Inglês | MEDLINE | ID: mdl-31931818

RESUMO

BACKGROUND: Both aging and changes in blood flow velocity between the extracranial (intraspinal) and intracranial regions of cerebral vessels have an impact on brain hydro-hemodynamics. Arterial and venous cerebral blood flows interact with cerebrospinal fluid (CSF) in the both the cranial and spinal systems. Studies suggest that increased blood and CSF flow pulsatility plays an important role in certain neurological diseases. Here, we investigated the changes in blood-CSF flow pulsatility in the cranial and spinal systems with age as well as the impact of the intracranial compartment on flow patterns. METHOD: Phase-contrast magnetic resonance imaging (PC-MRI) was performed in 16 young and 19 elderly healthy volunteers to measure the flows of CSF and blood. CSF stroke volume (SV), blood SV, and arterial and venous pulsatility indexes (PIs) were assessed at intra- and extracranial levels in both samples. Correlations between ventricular and spinal CSF flow, and between blood and CSF flow during aging were also assessed. RESULTS: There was a significant decrease in arterial cerebral blood flow and intracranial venous cerebral blood flow with aging. We also found a significant increase of intracranial blood SV, spinal CSF SV and arterial/venous pulsatility indexes with aging. In regard to intracranial compartment impact, arterial and venous PIs decreased significantly at intracranial level in elderly volunteers, while young adults exhibited decrease in venous PI only. Intracranial venous PI was paradoxically lower than extracranial venous PI, regardless of age. In both sample groups, spinal CSF SV and aqueductal CSF SV were positively correlated, and so were extracranial blood and spinal CSF SVs. CONCLUSION: The study demonstrates that aging changes blood flow but preserves blood and CSF interactions. We also showed that many parameters related to blood and CSF flows differ between young and elderly adults.


Assuntos
Encéfalo/irrigação sanguínea , Líquido Cefalorraquidiano/fisiologia , Circulação Cerebrovascular/fisiologia , Hemodinâmica/fisiologia , Idoso , Idoso de 80 Anos ou mais , Ventrículos Cerebrais/fisiologia , Estudos Transversais , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade
11.
Nat Genet ; 51(10): 1438-1441, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31570889

RESUMO

Hypopigmentation along Blaschko's lines is a hallmark of a poorly defined group of mosaic syndromes whose genetic causes are unknown. Here we show that postzygotic inactivating mutations of RHOA cause a neuroectodermal syndrome combining linear hypopigmentation, alopecia, apparently asymptomatic leukoencephalopathy, and facial, ocular, dental and acral anomalies. Our findings pave the way toward elucidating the etiology of pigmentary mosaicism and highlight the role of RHOA in human development and disease.


Assuntos
Mosaicismo , Mutação , Síndromes Neurocutâneas/etiologia , Pigmentação da Pele/genética , Zigoto , Proteína rhoA de Ligação ao GTP/genética , Humanos , Síndromes Neurocutâneas/patologia
12.
J Matern Fetal Neonatal Med ; 31(17): 2325-2331, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28612638

RESUMO

BACKGROUND: Fetal ventriculomegaly (VM) is defined as lateral ventricles measured above 10 mm. Some authors believe VM <12 mm are variants of the norm and need not be addressed for referral ultrasound. METHODS: A retrospective continuous cohort study of 127 confirmed fetal VM was divided into three groups after initial referral sonographic assessment: isolated VM <12 mm (group A), isolated VM ≥12 mm (group B), and VM associated with other malformations (group C). We reviewed obstetric outcome and neonate evolution after 1 month with the aim of defining a pertinent prenatal workup. RESULTS: We reported fetal infections in all groups (p = .24) and chromosomal abnormalities only in group C (p = .41). Fetal magnetic resonance imaging (MRI) found initially undiagnosed brain abnormalities in groups B and C (12.5 and 14.1%, p < .05). Ratios of healthy children after 1 month stemming, respectively, from groups A, B, and C were 66.7, 62.5, and 20.2% (p < .05). CONCLUSIONS: Our results are in favor of a systematic referral ultrasound for every fetal VM, regardless of size, as soon as definition criterion is met. Additional paraclinical assessment (maternal serologic status for toxoplasmosis and cytomegalovirus, amniocentesis, fetal cerebral MRI) should be discussed depending on the situation.


Assuntos
Ventrículos Cerebrais/diagnóstico por imagem , Desenvolvimento Fetal/fisiologia , Hidrocefalia/diagnóstico , Ultrassonografia Pré-Natal/normas , Adulto , Ventrículos Cerebrais/patologia , Feminino , Feto/diagnóstico por imagem , Feto/patologia , Humanos , Hidrocefalia/patologia , Recém-Nascido , Imageamento por Ressonância Magnética/métodos , Imageamento por Ressonância Magnética/normas , Centros de Saúde Materno-Infantil , Malformações do Sistema Nervoso/diagnóstico , Malformações do Sistema Nervoso/patologia , Gravidez , Cuidado Pré-Natal , Valores de Referência , Encaminhamento e Consulta , Estudos Retrospectivos , Ultrassonografia Pré-Natal/métodos , Adulto Jovem
13.
J Cereb Blood Flow Metab ; 27(9): 1563-72, 2007 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-17311079

RESUMO

Phase-contrast magnetic resonance imaging (PC-MRI) is a noninvasive reliable technique, which enables quantification of cerebrospinal fluid (CSF) and total cerebral blood flows (tCBF). Although it is used to study hydrodynamic cerebral disorders in the elderly group (hydrocephalus), there is no published evaluation of aging effects on both tCBF and CSF flows, and on their mechanical coupling. Nineteen young (mean age 27+/-4 years) and 12 elderly (71+/-9 years) healthy volunteers underwent cerebral MRI using 1.5 T scanner. Phase-contrast magnetic resonance imaging pulse sequence was performed at the aqueductal and cervical levels. Cerebrospinal fluid and blood flow curves were then calculated over the cardiac cycle, to extract the characteristic parameters: mean and peak flows, their latencies, and stroke volumes for CSF (cervical and aqueductal) and vascular flows. Total cerebral blood flow was (P<0.01) decreased significantly in the elderly group when compared with the young subjects with a linear correlation with age observed only in the elderly group (R(2)=0.7; P=0.05). Arteriovenous delay was preserved with aging. The CSF stroke volumes were significantly reduced in the elderly, at both aqueductal (P<0.01) and cervical (P<0.05) levels, whereas aqueduct/cervical proportion (P=0.9) was preserved. This is the first work to study aging effects on both CSF and vascular cerebral flows. Data showed (1) tCBF decrease, (2) proportional aqueductal and cervical CSF pulsations reduction as a result of arterial loss of pulsatility, and (3) preserved intracerebral compliance with aging. These results should be used as reference values, to help understand the pathophysiology of degenerative dementia and cerebral hydrodynamic disorders as hydrocephalus.


Assuntos
Envelhecimento/fisiologia , Encéfalo/irrigação sanguínea , Líquido Cefalorraquidiano/fisiologia , Circulação Cerebrovascular/fisiologia , Adulto , Idoso , Aqueduto do Mesencéfalo/fisiologia , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Imagem Cinética por Ressonância Magnética , Masculino
14.
J Atten Disord ; 21(14): 1208-1220, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24420764

RESUMO

OBJECTIVE: A failure of the anti-phase synchronization between default-mode (DMN) and task-positive networks (TPN) may be involved in a main manifestation of ADHD: moment-to-moment variability. The study investigated whereby methylphenidate may improve TPN/DMN synchronization in ADHD. METHOD: Eleven drug-naive ADHD children and 11 typically developing (TD) children performed a flanker task during functional magnetic resonance imaging. The ADHD group was scanned without and 1 month later with methylphenidate. The signal was analyzed by independent component analysis. RESULTS: The TD group showed anti-phase DMN/TPN synchronization. The unmedicated ADHD group showed synchronous activity in the posterior DMN only, which was positively correlated with response time variability for the flanker task. Methylphenidate initiated a partial anti-phase TPN/DMN synchronization, reduced variability, and abolished the variability/DMN correlation. CONCLUSION: Although results should be interpreted cautiously because the sample size is small, they suggest that a failure of the TPN/DMN synchronization could be involved in the moment-to-moment variability in ADHD. Methylphenidate initiated TPN/DMN synchronization, which in turn appeared to reduce variability.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/tratamento farmacológico , Metilfenidato/farmacologia , Rede Nervosa/efeitos dos fármacos , Vias Neurais/efeitos dos fármacos , Tempo de Reação/efeitos dos fármacos , Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Estudos de Casos e Controles , Criança , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Metilfenidato/administração & dosagem
15.
Medicine (Baltimore) ; 84(2): 129-136, 2005 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-15758842

RESUMO

Cowden syndrome (CS) is a rare autosomal dominant genodermatosis, characterized by multiple hamartomas, particularly of the skin, associated with high frequencies of breast, thyroid, and genitourinary malignancies. Although Lhermitte-Duclos disease (LDD) or dysplastic gangliocytoma of the cerebellum, a slowly progressive unilateral tumor, is a major criterion of CS, its frequency in patients with CS is unknown. Other cerebral abnormalities, especially meningioma and vascular malformations, have also been described, albeit rarely, in these patients. The aim of the current study was to use cerebral magnetic resonance imaging (MRI) to evaluate LDD frequency and to investigate other brain abnormalities in CS patients recruited by dermatologists. A multicenter study was conducted in 8 hospital dermatology departments between January 2000 and December 2003. Twenty patients with CS were included; specific cerebral MRI abnormalities were found in 35% (7/20) of them. Cerebral MRI revealed LDD in 3 patients, a meningioma in 1, and numerous vascular malformations in 6 patients. Five patients had venous angiomas (3 associated with LDD) and 2 patients had cavernous angiomas (1 associated with LDD and a venous angioma). The discovery of asymptomatic LDD in 3 patients and a cavernous angioma in another prompted us to perform neurologic examinations regularly and MRI to estimate the size and the extension of the tumor, and to assess the need for surgery. CS similarities with Bannayan-Riley-Ruvalcaba (BRR) are discussed because some patients could also have the BRR phenotype (for example, genital lentigines, macrocephaly, multiple lipomas) and because BRR seems to have more central nervous system vascular anomalies. Because CS signs can involve numerous systems, all physicians who might encounter this disease should be aware of its neurologic manifestations. Our findings confirm the contribution of brain MRI to detecting asymptomatic LDD, vascular malformations, and meningiomas in patients with CS.


Assuntos
Encéfalo/patologia , Síndrome do Hamartoma Múltiplo/patologia , Imageamento por Ressonância Magnética , Adolescente , Adulto , Idoso , Angioma Venoso do Sistema Nervoso Central/complicações , Angioma Venoso do Sistema Nervoso Central/patologia , Neoplasias Cerebelares/complicações , Neoplasias Cerebelares/patologia , Criança , Feminino , Ganglioneuroma/complicações , Ganglioneuroma/patologia , Síndrome do Hamartoma Múltiplo/complicações , Síndrome do Hamartoma Múltiplo/genética , Hemangioma/complicações , Hemangioma/patologia , Humanos , Masculino , Neoplasias Meníngeas/complicações , Neoplasias Meníngeas/patologia , Meningioma/complicações , Meningioma/patologia , Pessoa de Meia-Idade , Mutação , PTEN Fosfo-Hidrolase , Monoéster Fosfórico Hidrolases/genética , Proteínas Supressoras de Tumor/genética
16.
Invest Radiol ; 39(1): 45-55, 2004 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-14701988

RESUMO

RATIONALE AND OBJECTIVES: Using magnetic resonance imaging (MRI), we investigated cerebral blood and cerebrospinal fluid (CSF) flows in patients with communicating hydrocephalus (CH) and in healthy volunteers to determine the contribution of CSF flow to brain pressure regulation in CH patients. METHODS: Cine phase-contrast MRI data from 16 healthy volunteers and 12 patients with CH characterized by hyperdynamic aqueductal CSF flow were analyzed using in-house image-processing software that automatically measured flow curves. Amplitude and temporal CSF and blood flow parameters were compared in the 2 groups. RESULTS: Jugular peak flow occurred significantly earlier (P < 0.01) in the CH patients than in the healthy volunteers. Cervical CSF oscillations were not significantly different between the 2 groups. CONCLUSION: Venous vessel compression and/or changes in intracranial subarachnoid CSF flow produce an increase in ventricular CSF flush that compensates for vascular brain expansion in patients with CH.


Assuntos
Líquido Cefalorraquidiano/fisiologia , Circulação Cerebrovascular/fisiologia , Hidrocefalia/fisiopatologia , Imagem Cinética por Ressonância Magnética , Adolescente , Adulto , Velocidade do Fluxo Sanguíneo/fisiologia , Pressão do Líquido Cefalorraquidiano , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Pressão Intracraniana , Masculino , Fatores de Tempo
17.
Magn Reson Imaging ; 21(6): 645-50, 2003 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-12915196

RESUMO

Magnetic Resonance Diffusion-Weighted Imaging (DWI) has been reported to be helpful for the differential diagnosis between abscesses and cystic/necrotic brain tumors. However the number of patients is still limited, and the sensitivity and specificity of the method remain to be confirmed. The primary purpose of this study was to investigate a larger sample of patients, all investigated under the same experimental conditions, in order to obtain statistically significant data. Moreover, there is no consensus about the appropriate values of b required to use to make an accurate diagnosis from DWI. The secondary purpose of this study was to determine the discriminating threshold b values for raw diffusion-weighted images and for normalized diffusion-weighted images. On the basis of 14 abscesses, 10 high-grade gliomas and 2 metastases, we show that the calculation of accurate Apparent Diffusion Coefficient (ADC) values gives a specificity rate of 100%. Without ADC calculation, we show that image normalization is required to make an accurate differential diagnosis, and we highlight the ability of DWI to discriminate between brain abscesses and cystic/necrotic brain tumors using normalized signal intensity at lower b values (503 s/mm(2)) than usual.


Assuntos
Abscesso Encefálico/diagnóstico , Neoplasias Encefálicas/diagnóstico , Imageamento por Ressonância Magnética/métodos , Adolescente , Adulto , Idoso , Encéfalo/patologia , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Masculino , Pessoa de Meia-Idade , Necrose , Sensibilidade e Especificidade , Estatísticas não Paramétricas
18.
Eur J Radiol Open ; 1: 14-21, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-26937424

RESUMO

PURPOSES: Accurate measurements of the cerebrospinal fluid that flows through the prepontine cistern (PPC) are challenging due to artefacts originating from basilar artery blood flow. We aim to accurately quantify cerebrospinal fluid (CSF) flow and stroke volume in the PPC, which is essential before endoscopic third ventriculostomy. MATERIALS AND METHODS: We developed a new PC-MRI sequence prepared with Hadamard saturation bands to accurately quantify CSF flow in the PPC by suppressing the blood signal in the surrounding vessels. In total, 28 adult hydrocephalic patients (age 59 ± 20 years) were scanned using conventional PC-MRI and our developed sequence. CSF was separately extracted from the PPC and the foramen of Magendie, and flow (min and max) and stroke volume were quantified. RESULTS: Our modifications result in a complete deletion of signal from flowing blood, resulting in significantly reduced CSF stroke volume (Conv = 446 ± 113 mm(3), Dev = 390 ± 119 mm(3), p = 0.006) and flow, both minimum (Conv = -1630 ± 486 mm(3)/s, Dev = -1430 ± 406 mm(3)/s, p = 0.005) and maximum (Conv = 2384 ± 657 mm(3)/s, Dev = 1971 ± 62 mm(3)/s, p = 0.002) compared with the conventional sequence, whereas no change in the area of interest was noted (Conv = 236 ± 65 mm(2), Dev = 249 ± 75 mm(2), p = 0.21). CONCLUSIONS: Accurate and reproducible CSF flow and stroke volume measurements in the PPC can be achieved with sat-band prepared cine PC-MRI.

19.
J Child Neurol ; 29(12): 1608-15, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24346313

RESUMO

This study investigates the craniospinal flows of blood and cerebrospinal fluid using phase-contrast magnetic resonance imaging (MRI) on 23 control neonates and infants (5 d-68 mo old). Mean arterial cerebral blood flow increased with age of infant from 180 mL/min after birth to 1330 mL/min around 6 years of age. This corresponds to 51 mL/min/100 g and 95 mL/min/100 g, respectively. Cervical cerebrospinal fluid stroke volume increased from 38 × 10(-3) mL to 752 × 10(-3) mL per cardiac cycle. After arterial systolic blood inflow, we observed a delay of the venous outflow that was always preceded by cerebrospinal fluid flushing out through the spinal canal. These results highlighted the importance of compliance of the spinal compartment and the interaction of blood and cerebrospinal fluid dynamics. The capacity of the spinal compartment to receive intracranial cerebrospinal fluid in presence of fontanels was demonstrated. We provide reference values to understand the physiology of cerebrospinal fluid and cerebral blood.


Assuntos
Córtex Cerebral/irrigação sanguínea , Líquido Cefalorraquidiano/fisiologia , Circulação Cerebrovascular/fisiologia , Velocidade do Fluxo Sanguíneo , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Valores de Referência , Estudos Retrospectivos , Canal Medular/irrigação sanguínea
20.
Biomed Res Int ; 2013: 215989, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24151585

RESUMO

PURPOSE: This work suggests a fast estimation method of the lateral ventricles volume from a 2D image and then determines if this volume is correlated with the cerebrospinal fluid flow at the aqueductal and cerebral levels in neurodegenerative diseases. MATERIALS AND METHODS: Forty-five elderly patients suffering from Alzheimer's disease (19), normal pressure hydrocephalus (13), and vascular dementia (13) were involved and underwent anatomical and phase contrast MRI scans. Lateral ventricles and stroke volumes were assessed on anatomical and phase contrast scans, respectively. A common reference plane was used to calculate the lateral ventricles' area on 2D images. RESULTS: The largest volumes were observed in hydrocephalus patients. The linear regression between volumes and areas was computed, and a strong positive correlation was detected (R² = 0.9). A derived equation was determined to represent the volumes for any given area. On the other hand, no significant correlations were detected between ventricles and stroke volumes (R² ≤ 0.15). CONCLUSION: Lateral ventricles volumes are significantly proportional to the 2D reference section area and could be used for patients' follow-up even if 3D images are unavailable. The cerebrospinal fluid fluctuations in brain disorders may depend on many physiological parameters other than the ventricular morphology.


Assuntos
Doença de Alzheimer/líquido cefalorraquidiano , Demência Vascular/líquido cefalorraquidiano , Hidrocefalia de Pressão Normal/líquido cefalorraquidiano , Ventrículos Laterais/patologia , Idoso , Doença de Alzheimer/diagnóstico por imagem , Doença de Alzheimer/patologia , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Ventrículos Cerebrais/patologia , Demência Vascular/diagnóstico por imagem , Demência Vascular/patologia , Feminino , Humanos , Hidrocefalia/líquido cefalorraquidiano , Hidrocefalia de Pressão Normal/diagnóstico por imagem , Hidrocefalia de Pressão Normal/patologia , Imageamento por Ressonância Magnética , Masculino , Radiografia
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