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1.
Ultrasound Obstet Gynecol ; 60(1): 68-75, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-35018680

RESUMEN

OBJECTIVES: In this study of cytomegalovirus (CMV)-infected fetuses with first-trimester seroconversion, we aimed to evaluate the detection of brain abnormalities using magnetic resonance imaging (MRI) and neurosonography (NSG) in the third trimester, and compare the grading systems of the two modalities. We also evaluated the feasibility of routine use of diffusion-weighted imaging (DWI) fetal MRI and compared the regional apparent diffusion coefficient (ADC) values between CMV-infected fetuses and presumed normal, non-infected fetuses in the third trimester. METHODS: This was a retrospective review of MRI and NSG scans in fetuses with confirmed first-trimester CMV infection performed between September 2015 and August 2019. Brain abnormalities were recorded and graded using fetal MRI and NSG grading systems to compare the two modalities. To investigate feasibility of DWI, a four-point rating scale (poor, suboptimal, good, excellent) was applied to assess the quality of the images. Quantitative assessment was performed by placing a freehand drawn region of interest in the white matter of the frontal, parietal, temporal and occipital lobes and the basal ganglia, pons and cerebellum to calculate ADC values. Regional ADC measurements were obtained similarly in a control group of fetuses with negative maternal CMV serology in the first trimester, normal brain findings on fetal MRI and normal genetic testing. RESULTS: Fifty-three MRI examinations of 46 fetuses with confirmed first-trimester CMV infection were included. NSG detected 24 of 27 temporal cysts seen on MRI scans, with a sensitivity of 78% and an accuracy of 83%. NSG did not detect abnormal gyration visible on two (4%) MRI scans. Periventricular calcifications were detected on two MRI scans compared with 10 NSG scans. While lenticulostriate vasculopathy was detected on 11 (21%) NSG scans, no fetus demonstrated this finding on MRI. MRI grading correlated significantly with NSG grading of brain abnormalities (P < 0.0001). Eight (15%) of the DWI scans in the CMV cohort were excluded from further analysis because of insufficient quality. The ADC values of CMV-infected fetuses were significantly increased in the frontal (both sides, P < 0.0001), temporal (both sides, P < 0.0001), parietal (left side, P = 0.0378 and right side, P = 0.0014) and occipital (left side, P = 0.0002 and right side, P < 0.0001) lobes and decreased in the pons (P = 0.0085) when compared with non-infected fetuses. The ADC values in the basal ganglia and the cerebellum were not significantly different in CMV-infected fetuses compared with normal controls (all P > 0.05). Temporal and frontal ADC values were higher in CMV-infected fetuses with more severe brain abnormalities compared to fetuses with mild abnormalities. CONCLUSIONS: Ultrasound and MRI are complementary during the third trimester in the assessment of brain abnormalities in CMV-infected fetuses, with a significant correlation between the grading systems of the two modalities. On DWI in the third trimester, the ADC values in several brain regions are abnormal in CMV-infected fetuses compared with normal controls. Furthermore, they seem to correlate in the temporal area and, to a lesser extent, frontal area with the severity of brain abnormalities associated with CMV infection. Larger prospective studies are needed for further investigation of the microscopic nature of diffusion abnormalities and correlation of different imaging findings with postnatal outcome. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.


Asunto(s)
Infecciones por Citomegalovirus , Malformaciones del Sistema Nervioso , Encéfalo/diagnóstico por imagen , Infecciones por Citomegalovirus/diagnóstico por imagen , Imagen de Difusión por Resonancia Magnética/métodos , Femenino , Feto/diagnóstico por imagen , Humanos , Embarazo , Tercer Trimestre del Embarazo
2.
Ultrasound Obstet Gynecol ; 59(6): 804-812, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-34396624

RESUMEN

OBJECTIVES: To determine the prevalence of brain anomalies at the time of preoperative magnetic resonance imaging (MRI) assessment in fetuses eligible for prenatal open spina bifida (OSB) repair, and to explore the relationship between brain abnormalities and features of the spinal defect. METHODS: This was a retrospective cross-sectional study, conducted in three fetal medicine centers, of fetuses eligible for OSB fetal surgery repair between January 2009 and December 2019. MRI images obtained as part of the presurgical assessment were re-evaluated by two independent observers, blinded to perinatal results, to assess: (1) the type and area of the defect and its anatomical level; (2) the presence of any structural central nervous system (CNS) anomaly and abnormal ventricular wall; and (3) fetal head and brain biometry. Binary regression analyses were performed and data were adjusted for type of defect, upper level of the lesion (ULL), gestational age (GA) at MRI and fetal medicine center. Multiple logistic regression analysis was performed in order to identify lesion characteristics and brain anomalies associated with a higher risk of presence of abnormal corpus callosum (CC) and/or heterotopia. RESULTS: Of 115 fetuses included, 91 had myelomeningocele and 24 had myeloschisis. Anatomical level of the lesion was thoracic in seven fetuses, L1-L2 in 13, L3-L5 in 68 and sacral in 27. Median GA at MRI was 24.7 (interquartile range, 23.0-25.7) weeks. Overall, 52.7% of cases had at least one additional brain anomaly. Specifically, abnormal CC was observed in 50.4% of cases and abnormality of the ventricular wall in 19.1%, of which 4.3% had nodular heterotopia. Factors associated independently with higher risk of abnormal CC and/or heterotopia were non-sacral ULL (odds ratio (OR), 0.51 (95% CI, 0.26-0.97); P = 0.043), larger ventricular width (per mm) (OR, 1.23 (95% CI, 1.07-1.43); P = 0.005) and presence of abnormal cavum septi pellucidi (OR, 3.76 (95% CI, 1.13-12.48); P = 0.031). CONCLUSIONS: Half of the fetuses assessed for OSB repair had an abnormal CC and/or an abnormal ventricular wall prior to prenatal repair. The likelihood of brain abnormalities was increased in cases with a non-sacral lesion and wider lateral ventricles. These findings highlight the importance of a detailed preoperative CNS evaluation of fetuses with OSB. © 2021 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.


Asunto(s)
Enfermedades del Sistema Nervioso Central , Meningomielocele , Malformaciones del Sistema Nervioso , Espina Bífida Quística , Estudios Transversales , Femenino , Feto , Edad Gestacional , Humanos , Imagen por Resonancia Magnética/métodos , Meningomielocele/cirugía , Malformaciones del Sistema Nervioso/diagnóstico por imagen , Malformaciones del Sistema Nervioso/epidemiología , Embarazo , Prevalencia , Estudios Retrospectivos , Espina Bífida Quística/diagnóstico por imagen , Espina Bífida Quística/epidemiología , Espina Bífida Quística/cirugía , Ultrasonografía Prenatal
3.
Eur J Neurol ; 20(10): 1335-41, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-23679051

RESUMEN

BACKGROUND AND PURPOSE: Pseudoprogression is a frequent phenomenon observed since the introduction of postoperative therapy with radiotherapy and temozolomide (RT/TMZ) in glioblastoma multiforme (GBM) patients. However, the criteria defining pseudoprogression, its incidence, the time of occurrence and its impact on therapy and outcome remain poorly defined. METHODS: The objective of this study is to compare two sets of criteria (liberal and stringent), defining pseudoprogression, in a cohort of patients treated before and after the introduction of RT/TMZ in the standard postoperative treatment. This retrospective review includes 136 unselected and consecutively treated patients with pathologically diagnosed GBM. RESULTS: Pseudoprogression was observed in 10 (12%) cases applying the stringent criteria, and in 18 (23%) patients when using the liberal criteria, in the cohort treated with RT/TMZ. Pseudoprogression was observed in only one patient treated with RT alone. The median time to pseudoprogression was 4 weeks after the end of RT. Patients with pseudoprogression had a median survival time of 28 months, compared with 12 months for patients without pseudoprogression. CONCLUSIONS: The incidence of pseudoprogression after RT/TMZ strongly depends on the applied criteria. However, regardless of the stringency of the criteria, the impact on survival remains the same.


Asunto(s)
Neoplasias Encefálicas/patología , Encéfalo/patología , Metilasas de Modificación del ADN/genética , Enzimas Reparadoras del ADN/genética , Glioblastoma/patología , Traumatismos por Radiación/diagnóstico , Proteínas Supresoras de Tumor/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Antineoplásicos/administración & dosificación , Neoplasias Encefálicas/mortalidad , Neoplasias Encefálicas/terapia , Quimioradioterapia , Metilación de ADN , Dacarbazina/administración & dosificación , Dacarbazina/análogos & derivados , Femenino , Glioblastoma/mortalidad , Glioblastoma/terapia , Humanos , Incidencia , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Regiones Promotoras Genéticas/genética , Traumatismos por Radiación/epidemiología , Estudios Retrospectivos , Factores de Riesgo , Temozolomida , Adulto Joven
4.
AJNR Am J Neuroradiol ; 44(4): 486-491, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-36863845

RESUMEN

BACKGROUND AND PURPOSE: Fetal brain MR imaging is clinically used to characterize fetal brain abnormalities. Recently, algorithms have been proposed to reconstruct high-resolution 3D fetal brain volumes from 2D slices. By means of these reconstructions, convolutional neural networks have been developed for automatic image segmentation to avoid labor-intensive manual annotations, usually trained on data of normal fetal brains. Herein, we tested the performance of an algorithm specifically developed for segmentation of abnormal fetal brains. MATERIALS AND METHODS: This was a single-center retrospective study on MR images of 16 fetuses with severe CNS anomalies (gestation, 21-39 weeks). T2-weighted 2D slices were converted to 3D volumes using a super-resolution reconstruction algorithm. The acquired volumetric data were then processed by a novel convolutional neural network to perform segmentations of white matter and the ventricular system and cerebellum. These were compared with manual segmentation using the Dice coefficient, Hausdorff distance (95th percentile), and volume difference. Using interquartile ranges, we identified outliers of these metrics and further analyzed them in detail. RESULTS: The mean Dice coefficient was 96.2%, 93.7%, and 94.7% for white matter and the ventricular system and cerebellum, respectively. The Hausdorff distance was 1.1, 2.3, and 1.6 mm, respectively. The volume difference was 1.6, 1.4, and 0.3 mL, respectively. Of the 126 measurements, there were 16 outliers among 5 fetuses, discussed on a case-by-case basis. CONCLUSIONS: Our novel segmentation algorithm obtained excellent results on MR images of fetuses with severe brain abnormalities. Analysis of the outliers shows the need to include pathologies underrepresented in the current data set. Quality control to prevent occasional errors is still needed.


Asunto(s)
Encefalopatías , Sustancia Blanca , Humanos , Estudios Retrospectivos , Procesamiento de Imagen Asistido por Computador/métodos , Redes Neurales de la Computación , Imagen por Resonancia Magnética/métodos
5.
AJNR Am J Neuroradiol ; 44(8): 894-900, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-37500286

RESUMEN

BACKGROUND AND PURPOSE: ASPECTS quantifies early ischemic changes in anterior circulation stroke on NCCT but has interrater variability. We examined the agreement of conventional and automated ASPECTS and studied the value of computer-aided detection. MATERIALS AND METHODS: We retrospectively collected imaging data from consecutive patients with acute ischemic stroke with large-vessel occlusion undergoing thrombectomy. Five raters scored conventional ASPECTS on baseline NCCTs, which were also processed by RAPID software. Conventional and automated ASPECTS were compared with a consensus criterion standard. We determined the agreement over the full ASPECTS range as well as dichotomized, reflecting thrombectomy eligibility according to the guidelines (ASPECTS 0-5 versus 6-10). Raters subsequently scored ASPECTS on the same NCCTs with assistance of the automated ASPECTS outputs, and agreement was obtained. RESULTS: For the total of 175 cases, agreement among raters individually and the criterion standard varied from fair to good (weighted κ = between 0.38 and 0.76) and was moderate (weighted κ = 0.59) for the automated ASPECTS. The agreement of all raters individually versus the criterion standard improved with software assistance, as did the interrater agreement (overall Fleiss κ = 0.15-0.23; P < .001 and .39 to .55; P = .01 for the dichotomized ASPECTS). CONCLUSIONS: Automated ASPECTS had agreement with the criterion standard similar to that of conventional ASPECTS. However, including automated ASPECTS during the evaluation of NCCT in acute stroke improved the agreement with the criterion standard and improved interrater agreement, which could, therefore, result in more uniform scoring in clinical practice.


Asunto(s)
Isquemia Encefálica , Accidente Cerebrovascular Isquémico , Accidente Cerebrovascular , Humanos , Isquemia Encefálica/diagnóstico por imagen , Estudios Retrospectivos , Tomografía Computarizada por Rayos X/métodos , Accidente Cerebrovascular/diagnóstico por imagen , Programas Informáticos , Computadores
6.
AJNR Am J Neuroradiol ; 44(2): 205-211, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-36657946

RESUMEN

BACKGROUND AND PURPOSE: Congenital diaphragmatic hernia is associated with high mortality and morbidity, including evidence suggesting neurodevelopmental comorbidities after birth. The aim of this study was to document longitudinal changes in brain biometry and the cortical folding pattern in fetuses with congenital diaphragmatic hernia compared with healthy fetuses. MATERIALS AND METHODS: This is a retrospective cohort study including fetuses with isolated congenital diaphragmatic hernia between January 2007 and May 2019, with at least 2 MR imaging examinations. For controls, we used images from fetuses who underwent MR imaging for an unrelated condition that did not compromise fetal brain development and fetuses from healthy pregnant women. Biometric measurements and 3D segmentations of brain structures were used as well as qualitative and quantitative grading of the supratentorial brain. Brain development was correlated with disease-severity markers. RESULTS: Forty-two fetuses were included, with a mean gestational age at first MR imaging of 28.0 (SD, 2.1) weeks and 33.2 (SD, 1.3) weeks at the second imaging. The mean gestational age in controls was 30.7 (SD, 4.2) weeks. At 28 weeks, fetuses with congenital diaphragmatic hernia had abnormal qualitative and quantitative maturation, more extra-axial fluid, and larger total skull volume. By 33 weeks, qualitative grading scores were still abnormal, but quantitative scoring was in the normal range. In contrast, the extra-axial fluid volume remained abnormal with increased ventricular volume. Normal brain parenchymal volumes were found. CONCLUSIONS: Brain development in fetuses with congenital diaphragmatic hernia around 28 weeks appears to be delayed. This feature is less prominent at 33 weeks. At this stage, there was also an increase in ventricular and extra-axial space volume.


Asunto(s)
Hernias Diafragmáticas Congénitas , Femenino , Embarazo , Humanos , Lactante , Hernias Diafragmáticas Congénitas/diagnóstico por imagen , Hernias Diafragmáticas Congénitas/complicaciones , Estudios Retrospectivos , Diagnóstico Prenatal/métodos , Feto/diagnóstico por imagen , Edad Gestacional , Encéfalo/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Ultrasonografía Prenatal
7.
Bull Soc Belge Ophtalmol ; (320): 5-10, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22978178

RESUMEN

We report a 4-year-old girl presenting with sudden severe bilateral visual loss. Ophthalmological examination revealed optic disc pallor. Further neurological examination was normal. Brain magnetic resonance imaging (MRI) suggested chiasmal optic neuritis, and further etiological investigations were negative. We review the literature on the incidence and underlying etiology of chiasmal optic neuritis in childhood.


Asunto(s)
Quiasma Óptico/patología , Neuritis Óptica/diagnóstico , Preescolar , Femenino , Humanos , Imagen por Resonancia Magnética , Neuritis Óptica/complicaciones , Trastornos de la Visión/etiología
9.
Clin Radiol ; 65(1): 34-9, 2010 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-20103419

RESUMEN

AIM: To assess the value of unenhanced brain computed tomography (CT) in the diagnosis of cerebral venous sinus thrombosis (CVST). MATERIALS AND METHODS: Unenhanced brain CT images of 26 patients with proven CVST were mixed with 26 age and sex-matched images from patients without CVST. Four readers reviewed the 52 brain CT images and were asked to score the examinations for the absence or presence of CVST on a scale from 0 to 4. The mean density in the different venous sinuses was measured by one radiologist. RESULTS: The sensitivity of unenhanced brain CT for the diagnosis of CVST was 73%. There were no false-positive readings. A receiver-operating characteristic (ROC) analysis on these data resulted in an area under the curve of 0.86. Density measurements proved to be helpful, but could not detect all cases of CVST. CONCLUSION: Unenhanced brain CT is a valid initial radiological examination in the diagnosis of CVST. Due to the absence of false-positives in the present series, unenhanced CT can be used to decide whether further imaging with CT angiography or magnetic resonance angiography is required.


Asunto(s)
Trombosis de los Senos Intracraneales/diagnóstico por imagen , Tomografía Computarizada por Rayos X/métodos , Adolescente , Adulto , Distribución por Edad , Anciano , Estudios de Casos y Controles , Niño , Preescolar , Reacciones Falso Positivas , Femenino , Humanos , Lactante , Recién Nacido , Angiografía por Resonancia Magnética , Masculino , Persona de Mediana Edad , Sensibilidad y Especificidad , Distribución por Sexo , Trombosis de los Senos Intracraneales/diagnóstico , Adulto Joven
10.
Bull Soc Belge Ophtalmol ; (316): 21-6, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-21305809

RESUMEN

We report a case of unilateral acute acquired intermittent Brown's syndrome in a 5-year-old boy, that resolved spontaneously but recurred at regular intervals afterwards. A specific cause could not be found. We discuss the possible pathophysiological mechanisms of acquired Brown's syndrome in children.


Asunto(s)
Trastornos de la Motilidad Ocular/diagnóstico , Preescolar , Humanos , Masculino , Órbita/diagnóstico por imagen , Examen Físico , Tomografía Computarizada por Rayos X
11.
Orphanet J Rare Dis ; 15(1): 83, 2020 04 05.
Artículo en Inglés | MEDLINE | ID: mdl-32248831

RESUMEN

BACKGROUND: Late-onset Pompe disease (LOPD) is a rare, hereditary, progressive disorder that is usually characterized by limb-girdle muscle weakness and/or respiratory insufficiency. LOPD is caused by mutations in the acid alpha-glucosidase (GAA) gene and treated with enzyme replacement therapy (ERT). METHODS: We studied the clinical, brain imaging, and genetic features of the Belgian cohort of late-onset Pompe disease patients (N = 52), and explored the sensitivity of different outcome measures, during a longitudinal period of 7 years (2010-2017), including the activity limitations ActivLim score, 6 min walking distance (6MWD), 10 m walk test (10MWT), MRC sum score, and forced vital capacity (FVC) sitting/supine. RESULTS: In Belgium, we calculated an LOPD prevalence of 3.9 per million. Mean age at onset of 52 LOPD patients was 28.9 years (SD: 15.8 y), ranging from 7 months to 68 years. Seventy-five percent (N = 39) of the patients initially presented with limb-girdle weakness, whereas in 13% (N = 7) respiratory symptoms were the only initial symptom. Non-invasive ventilation (NIV) was started in 37% (N = 19), at a mean age of 49.5 years (SD: 11.9 y), with a mean duration of 15 years (SD: 10.2 y) after symptom onset. Brain imaging revealed abnormalities in 25% (N = 8) of the patients, with the presence of small cerebral aneurysm(s) in two patients and a vertebrobasilar dolichoectasia in another two. Mean diagnostic delay was 12.9 years. All patients were compound heterozygotes with the most prevalent mutation being c.-32-13 T > G in 96%. We identified two novel mutations in GAA: c.1610_1611delA and c.186dup11. For the 6MWD, MRC sum score, FVC sitting and FVC supine, we measured a significant decrease over time (p = 0.0002, p = 0.0001, p = 0.0077, p = 0.0151), which was not revealed with the ActivLim score and 10MWT (p > 0.05). CONCLUSIONS: Awareness on LOPD should even be further increased because of the long diagnostic delay. The 6MWD, but not the ActivLim score, is a sensitive outcome measure to follow up LOPD patients.


Asunto(s)
Enfermedad del Almacenamiento de Glucógeno Tipo II , Bélgica/epidemiología , Diagnóstico Tardío , Terapia de Reemplazo Enzimático , Enfermedad del Almacenamiento de Glucógeno Tipo II/tratamiento farmacológico , Enfermedad del Almacenamiento de Glucógeno Tipo II/epidemiología , Enfermedad del Almacenamiento de Glucógeno Tipo II/genética , Humanos , Persona de Mediana Edad , Evaluación de Resultado en la Atención de Salud , alfa-Glucosidasas/uso terapéutico
13.
J Neurol ; 267(11): 3292-3298, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-32572620

RESUMEN

BACKGROUND: Cerebral venous thrombosis (CVT) is associated with intracranial hemorrhage. AIM: To identify clinical and imaging features of CVT-associated intracranial hemorrhage. We hypothesized that higher clot burden would be associated with a higher risk of intracranial hemorrhage. METHODS: We performed a retrospective analysis of an international, multicenter cohort of patients with confirmed cerebral venous thrombosis who underwent computed tomography within 2 weeks of symptom onset. Clinical and imaging features were compared between patients with and without intracranial hemorrhage. Clot burden was assessed by counting the number of thrombosed venous sinuses and veins on confirmatory imaging. RESULTS: We enrolled 260 patients from 10 institutions in Europe and Mexico. The mean age was 42 years and 74% were female. Intracranial hemorrhage was found in 102 (39%). Among them parenchymal hemorrhage occurred in 64 (63%), in addition, small juxta-cortical hemorrhage was found in 30 (29%), subarachnoid hemorrhage in 24 (24%) and subdural hemorrhage in 11 (11%). Multiple concomitant types of hemorrhage occurred in 23 (23%). Older age and superior sagittal thrombosis involvement were associated with presence of hemorrhage. The number of thrombosed venous sinuses was not associated with intracranial hemorrhage (median number IQRInterquartile ratio] of sinuses/veins involved with hemorrhage 2 (1-3) vs. 2 (1-3) without hemorrhage, p = 0.4). CONCLUSION: The high rate of intracranial hemorrhage in cerebral venous thrombosis is not explained by widespread involvement of the venous sinuses. Superior sagittal sinus involvement is associated with higher bleeding risk.


Asunto(s)
Venas Cerebrales , Trombosis Intracraneal , Trombosis de la Vena , Adulto , Anciano , Europa (Continente) , Femenino , Humanos , Hemorragias Intracraneales/complicaciones , Hemorragias Intracraneales/diagnóstico por imagen , Hemorragias Intracraneales/epidemiología , Trombosis Intracraneal/complicaciones , Trombosis Intracraneal/diagnóstico por imagen , Trombosis Intracraneal/epidemiología , Masculino , México , Estudios Retrospectivos , Trombosis de la Vena/complicaciones , Trombosis de la Vena/diagnóstico por imagen , Trombosis de la Vena/epidemiología
14.
Dev Med Child Neurol ; 51(3): 209-17, 2009 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-19260932

RESUMEN

In this article we describe visual perceptual abilities of a clinical population, referred for visual problems to our multidisciplinary team and assessed with the five computer tasks from the L94 visual perceptual battery. Clinical and neuroimaging findings were correlated with the findings on this task battery. Seventy children (35 males, 35 females) constituted our cohort. Age ranged from 4 to 20 years (mean 7y [SD 3y]). Forty children were born before 37 weeks gestational age. Thirty-six children had cerebral palsy (CP), of whom 24 had spastic diplegia, five had spastic hemiplegia, and four had spastic quadriplegia. Three children had ataxic CP. Perceptual visual impairment (PVI) was established in comparison to the performance age obtained on non-verbal intelligence subtests, instead of chronological age. Our results suggest that children with a history of preterm birth and a clinical CP picture are most at risk for a specific PVI. Correlations among other clinical variables did not define a clinical subgroup more at risk. Children with periventricular leucomalacia were almost equally represented in both PVI and non-PVI groups. Normal magnetic resonance imaging did not exclude the presence of PVI. In these children, however, we found another impairment profile, more in favour of dorsal stream impairment.


Asunto(s)
Encefalopatías/fisiopatología , Corteza Cerebral/fisiopatología , Trastornos de la Visión/fisiopatología , Percepción Visual/fisiología , Adolescente , Encefalopatías/clasificación , Encefalopatías/complicaciones , Corteza Cerebral/patología , Niño , Preescolar , Estudios de Cohortes , Diagnóstico por Computador , Femenino , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Pruebas Neuropsicológicas , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Estadística como Asunto , Trastornos de la Visión/diagnóstico , Trastornos de la Visión/etiología , Escalas de Wechsler , Adulto Joven
15.
J Med Genet ; 45(6): 376-83, 2008 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-18285423

RESUMEN

BACKGROUND: Peroxisome biogenesis disorders are a clinically and genetically heterogeneous group of very severe autosomal recessive disorders caused by impaired peroxisome biogenesis. The prototype of this group of disorders is the cerebro-hepato-renal syndrome of Zellweger. METHODS AND RESULTS: Here we report a patient with Zellweger syndrome, who presented at the age of 3 months with icterus, dystrophy, axial hypotonia, facial dysmorphy, posterior embryotoxon, and hepatomegaly. Abnormal findings of metabolic screening tests included hyperbilirubinaemia, hypoketotic dicarboxylic aciduria, increased C(26:0) and decreased C(22:0) plasma levels, and strongly reduced plasmalogen concentrations. In fibroblasts, both peroxisomal alpha- and beta-oxidation were impaired. Liver histology revealed bile duct paucity, cholestasis, arterial hyperplasia, very small branches of the vena portae, and parenchymatic destruction. Immunocytochemical analysis of cultured fibroblasts demonstrated that the cells contain peroxisomal remnants lacking apparent matrix protein content and PEX14, a central membrane component of the peroxisomal matrix protein import machinery. Transfection of fibroblasts with a plasmid coding for wild-type PEX14 restored peroxisomal matrix protein import, indicating that the primary genetic defect affecting the patient is indeed linked to PEX14. Mutational analysis of this gene revealed a genomic deletion leading to the deletion of exon 3 from the coding DNA (c.85-?_170+?del) and a concomitant change of the reading frame (p.[Ile29_Lys56del;Gly57GlyfsX2]). CONCLUSIONS: This report represents the second PEX14-deficiency associated with Zellweger syndrome and the first documentation of a PEX14-deficient patient with detailed clinical follow-up and biochemical, morphological, and radiological data.


Asunto(s)
Proteínas de la Membrana/genética , Mutación/genética , Proteínas Represoras/genética , Síndrome de Zellweger/genética , Secuencia de Bases , Análisis Mutacional de ADN , ADN Intergénico , Exones/genética , Fibroblastos/metabolismo , Fibroblastos/patología , Humanos , Immunoblotting , Lactante , Hígado/ultraestructura , Imagen por Resonancia Magnética , Masculino , Datos de Secuencia Molecular , Peroxisomas/metabolismo
16.
AJNR Am J Neuroradiol ; 40(1): 191-198, 2019 01.
Artículo en Inglés | MEDLINE | ID: mdl-30591508

RESUMEN

BACKGROUND AND PURPOSE: Fetal MR imaging is part of the comprehensive prenatal assessment of fetuses with open spinal dysraphism. We aimed to assess the reliability of brain stem and posterior fossa measurements; use the reliable measurements to characterize fetuses with open spinal dysraphism versus what can be observed in healthy age-matched controls; and document changes in those within 1 week after prenatal repair. MATERIALS AND METHODS: Retrospective evaluation of 349 MR imaging examinations took place, including 274 in controls and 52 in fetuses with open spinal dysraphism, of whom 23 underwent prenatal repair and had additional early postoperative MR images. We evaluated measurements of the brain stem and the posterior fossa and the ventricular width in all populations for their reliability and differences between the groups. RESULTS: The transverse cerebellar diameter, cerebellar herniation level, clivus-supraocciput angle, transverse diameter of the posterior fossa, posterior fossa area, and ventricular width showed an acceptable intra- and interobserver reliability (intraclass correlation coefficient > 0.5). In fetuses with open spinal dysraphism, these measurements were significantly different from those of healthy fetuses (all with P < .0001). Furthermore, they also changed significantly (P value range = .01 to < .0001) within 1 week after the fetal operation with an evolution toward normal, most evident for the clivus-supraocciput angle (65.9 ± 12.5°; 76.6 ± 10.9; P < .0001) and cerebellar herniation level (-9.9 ± 4.2 mm; -0.7 ± 5.2; P < .0001). CONCLUSIONS: In fetuses with open spinal dysraphism, brain stem measurements varied substantially between observers. However, measurements characterizing the posterior fossa could be reliably assessed and were significantly different from normal. Following a fetal operation, these deviations from normal values changed significantly within 1 week.


Asunto(s)
Tronco Encefálico/diagnóstico por imagen , Tronco Encefálico/cirugía , Fosa Craneal Posterior/diagnóstico por imagen , Fosa Craneal Posterior/cirugía , Feto/diagnóstico por imagen , Feto/cirugía , Imagen por Resonancia Magnética/métodos , Procedimientos Neuroquirúrgicos/métodos , Disrafia Espinal/diagnóstico por imagen , Disrafia Espinal/cirugía , Adulto , Cerebelo/diagnóstico por imagen , Femenino , Humanos , Variaciones Dependientes del Observador , Embarazo , Diagnóstico Prenatal , Reproducibilidad de los Resultados , Estudios Retrospectivos , Resultado del Tratamiento
18.
Eur J Paediatr Neurol ; 21(5): 787-791, 2017 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-28666648

RESUMEN

PURPOSE: To report three patients with an unilateral morning glory disc anomaly in association with an ipsilateral mild thickening of the optic nerve. METHODS: Three children with a morning glory disc anomaly underwent a magnetic resonance imaging (MRI) of the brain. Ophthalmological, genetic and MRI findings at follow-up are reported. A literature search on the association of morning glory anomaly in association with optic nerve glioma is reported.1 RESULTS: Three children with an unilateral morning glory anomaly and ipsilateral poor visual acuity were found to have an ipsilateral mild optic nerve enlargement on brain MRI. At serial MRI scanning, there was no progression of this finding. CONCLUSIONS: The morning glory disc anomaly is a rare congenital malformation of the optic disc. It can be associated with central nervous system abnormalities. The association with an optic nerve glioma has been described once before.1 Our three cases confirm the possible association between a morning glory disc anomaly and an ipsilateral optic nerve enlargement. Serial MRI showed no growth at follow-up. The awareness of this association by the ophthalmologists is important.


Asunto(s)
Encéfalo/diagnóstico por imagen , Disco Óptico/anomalías , Nervio Óptico/anomalías , Trastornos de la Visión/etiología , Preescolar , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Trastornos de la Visión/diagnóstico por imagen
19.
AJNR Am J Neuroradiol ; 27(9): 1830-3, 2006 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-17032852

RESUMEN

PURPOSE: Protected carotid artery stent placement is currently under clinical evaluation as a potential alternative to carotid endarterectomy. The current study was undertaken to determine the incidence of new ischemic lesions found on diffusion-weighted MR imaging (DWI) in nonselected patients after protected carotid artery stent placement using a filter device and to determine the potential relationship between these new ischemic lesions and the presence or absence of a clear amount of debris captured by the neuroprotection filter device. MATERIALS AND METHODS: A nonrandomized cohort of 52 patients (40 men, 12 women) presenting with carotid occlusive disease underwent protected carotid artery stent placement using a filter device. DWI obtained 1 day before stent placement was compared with that obtained 1 day after stent placement. In addition, the macroscopic and microscopic analysis of debris captured by the filter device during the carotid stent placement procedure was assessed. RESULTS: Neuroprotected carotid stent placement was technically successful in all 53 procedures but was complicated by a transient ischemic attack in 3 patients (5.6%). In 22 patients (41.5%), new ischemic lesions were found on DWI, and in 21 filter devices (39.6%), a substantial amount of atheromatous plaque and/or fibrin was found. No clear relationship between the presence of debris captured by the filter device and new lesions detected by DWI was found (P = .087; odds ratio 3.067). CONCLUSION: Neuroprotected carotid artery stent placement will not avoid silent cerebral ischemia. Systematic microscopic analysis of debris captured by the filter device has no predictive value for potential cerebral ischemia after carotid artery stent placement.


Asunto(s)
Isquemia Encefálica/diagnóstico , Estenosis Carotídea/diagnóstico , Estenosis Carotídea/terapia , Imagen de Difusión por Resonancia Magnética , Filtración/instrumentación , Membranas Artificiales , Poliuretanos , Stents , Anciano , Anciano de 80 o más Años , Aterosclerosis/diagnóstico , Aterosclerosis/terapia , Isquemia Encefálica/prevención & control , Arteria Carótida Común , Estudios de Cohortes , Diseño de Equipo , Falla de Equipo , Femenino , Fibrina/ultraestructura , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Factores de Riesgo
20.
Neurology ; 52(1): 205-8, 1999 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-9921880

RESUMEN

Diffusion-weighted MRI (DWI) was used in three patients with autopsy-proven sporadic Creutzfeldt-Jakob disease (CJD) to provide a rapid noninvasive way to make this sometimes confusing diagnosis. DWI prompted the diagnosis of CJD at an early stage and appears to be particularly useful for monitoring the progression of the disease. We suggest that patients with suspected CJD and no abnormalities on T2- and proton density-weighted images may have cortical involvement on DWI.


Asunto(s)
Síndrome de Creutzfeldt-Jakob/diagnóstico , Imagen por Resonancia Magnética/métodos , Anciano , Corteza Cerebral/patología , Síndrome de Creutzfeldt-Jakob/patología , Femenino , Gliosis/patología , Humanos , Masculino , Persona de Mediana Edad
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