Neuroradiological Features Research Articles

A case of Foix–Chavany–Marie syndrome due to bilateral corona radiata infarcts

AbstractFoix–Chavany–Marie syndrome (FCMS) is a rare type of pseudobulbar palsy characterized by automatic‐voluntary dissociation of movements that depend on V, VII, IX, X, and XII cranial nerves. Most of cases are due to bilateral ischemic lesions of anterior opercula, but the syndrome has also been described after unilateral opercular damage either isolated or associated with contralateral cortico‐nuclear tract involvement. Here, we report the clinical and neuroradiological characteristics of a patient with FCMS due to sequential, bilateral, and symmetrical infarcts of corona radiata, presenting with slurred speech, severe hypophonia, and right central‐type facial palsy that rapidly progressed to inability to speak and swallow. In addition, we observed a sudden onset of neuro‐behavioral changes with psychomotor slowing, aggressive, and oppositive conducts along with emotional lability and involuntary crying. To the best of our knowledge, only one other FCMS case has been previously reported with this peculiar lesional topography.

Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1

Glutaric acidemia type 1 (GA1) is an inherited metabolic autosomal recessive disorder that is caused by a deficiency in glutaryl-CoA dehydrogenase (GCDH). Untreated patients suffer primarily from severe striatal damage. More than 250 variants in the GCDH gene have been reported with a variable frequency among different ethnic groups. In this study, we aimed to characterize 89 Egyptian patients with GA1 and identify the variants in the 41 patients who were available for genotyping. All of our patients demonstrated clinical, neuroradiological, and biochemical characteristics that are consistent with a diagnosis of GA1. All patients presented with variable degrees of developmental delay ranging from mild to severe. Most of the 89 patients presented with acute onset type (71.9%), followed by insidious (19%) and asymptomatic (9%). A delay in diagnosis was inversely associated with macrocephaly. The prevalence rate ratio (PR) for macrocephaly that was associated with each 6-month delay was 0.95 (95%CI 0.91–0.99). However, high body weight was associated with a higher likelihood of having macrocephaly (PR 1.16, 95%CI 1.06–1.26 per 1 SD increment of Z score weight). However, body weight was inversely associated with the morbidity score. Consanguinity level was 64% among our patient’s cohort and was positively associated with the C5DC level (β (95%CI) 1.06 (0.12–1.99)). Forty-one patients were available for genotyping and were sequenced for the GCDH gene. We identified a total of 25 variants, of which the following six novel variants were identified: three missense variants, c.320G > T (p.Gly107Val), c.481C > T (p.Arg161Trp) and c.572 T > G (p.Met191Arg); two deletions, c.78delG (p.Ala27Argfs34) and c.1035delG (p.Gly346Alafs*11); and one indel, c.272_331del (p.Val91_Lys111delinsGlu). All of the novel variants were absent in the 300 normal chromosomes. The most common variant, c.*165A > G, was detected in 42 alleles, and the most commonly detected missense variant, c.1204C > T (p.Arg402Trp), was identified in 29 mutated alleles in 15/41 (34.2%) of patients. Our findings suggest that GA1 is not uncommon organic acidemia disease in Egypt; therefore, there is a need for supporting neonatal screening programs in Egypt.

Chronic immune sensorimotor polyradiculopathy: Report of a case series.

Chronic immune sensorimotor polyradiculopathy (CISMP) is a chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) variant affecting both sensory and motor nerve roots without evidence of peripheral nerve demyelination. We report a case series of 9 patients with CISMP, identified from 2 tertiary centers. Clinical, electrodiagnostic, and neuroradiologic features, and treatment responses, were retrospectively reviewed. Patients presented with sensorimotor deficits and hypo-/areflexia, predominantly involving lower extremities. Three had cranial nerve involvement. Electrodiagnostic findings in all patients localized to roots proximal to dorsal root ganglia, without evidence of peripheral nerve demyelination. Cerebrospinal fluid examination revealed an albuminocytologic association. Eight patients exhibited gadolinium enhancement and thickening of multiple spinal nerve roots and/or cranial nerves. All patients demonstrated good responses to immunotherapies. CISMP is similar to CIDP in many aspects, but lacks typical electrodiagnostic findings of peripheral nerve demyelination. It is important to recognize this unusual and treatable entity. Muscle Nerve 59:658-664, 2019.

Neuroradiological and clinical features in ophthalmoplegia.

Especially in acute onset of ophthalmoplegia, efficient neuroradiological evaluation is necessary to assist differential diagnosis, clinical course, and treatment options. Different manifestations of ophthalmoplegia are explained and illustrated by characteristic neuroradiological and clinical findings. To present those ophthalmoplegic disorders in a clear manner, this review refers to different neuroanatomical structures and compartments. From neuroophthalmological point of view, diseases going ahead with ophthalmoplegia can be divided into (1) efferent infranuclear/peripheral disturbances involving oculomotor cranial nerves, (2) conjugate gaze abnormalities due to internuclear or supranuclear lesions, and (3) diseases of the extraocular eye muscles or their impairment due to intraorbital pathologies. The knowledge of the relationship between neurological findings in ophthalmoplegia and involved neuroanatomical structures is crucial, and neuroradiology can be focused on circumscribed anatomical regions, using optimized investigation protocols.

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.

SLC35A2-CDG is caused by mutations in the X-linked SLC35A2 gene encoding the UDP-galactose transporter. SLC35A2 mutations lead to hypogalactosylation of N-glycans. SLC35A2-CDG is characterized by severe neurological symptoms and, in many patients, early-onset epileptic encephalopathy. In view of the diagnostic challenges, we studied the clinical, neuroradiological, and biochemical features of 15 patients (11 females and 4 males) with SLC35A2-CDG from various centers. We describe nine novel pathogenic variations in SLC35A2. All affected individuals presented with a global developmental delay, and hypotonia, while 70% were nonambulatory. Epilepsy was present in 80% of the patients, and in EEG hypsarrhythmia and findings consistent with epileptic encephalopathy were frequently seen. The most common brain MRI abnormality was cerebral atrophy with delayed myelination and multifocal inhomogeneous abnormal patchy white matter hyperintensities, which seemed to be nonprogressive. Thin corpus callosum was also common, and all the patients had a corpus callosum shorter than normal for their age. Variable dysmorphic features and growth deficiency were noted. Biochemically, normal mucin type O-glycosylation and lipid glycosylation were found, while transferrin mass spectrometry was found to be more specific in the identification of SLC35A2-CDG, as compared to routine screening tests. Although normal glycosylation studies together with clinical variability and genetic results complicate the diagnosis of SLC35A2-CDG, our data indicate that the combination of these three elements can support the pathogenicity of mutations in SLC35A2.

Neuro-radiological characteristics of adult diffuse grade II and III insular gliomas classified according to WHO 2016.

The phenotypic heterogeneity of diffuse gliomas is still inconsistently explained by known molecular abnormalities. Here, we report the molecular and radiological features of diffuse grade WHO II and III gliomas involving the insula and its potential impact on prognosis. Clinical, pathological, molecular and neuro-radiological features of 43 consecutive patients who underwent a surgical resection between 2006 and 2013 for a grade II and III gliomas involving the insula was retrospectively analyzed. Median age was 44.4years. Eight patients had oligodendrogliomas, IDH mutant (IDHmut) and 1p/19q-codeleted (6 grade II, 2 grade III). Twenty-eight patients had diffuse astrocytomas, IDHmut (22 grade II and 6 grade III) and seven patients had grade II diffuse astrocytomas, IDHwt (A-IDHwt). Vimentin staining was exclusively recorded in tumor cells from A-IDHwt (p = 0.001). Mean cerebral blood volume (CBV) (p = 0.018), maximal value of CBV (p = 0.017) and ratio of the corrected CBV (p = 0.022) were lower for A-IDHwt. Volumetric segmentation of ADC allowed the identification of the tumor cores, which were smaller in A-IDHwt (p < 0.001). The tumor occurrences of A-IDHwt were exclusively located into the temporo-insular region. Median progression-free survival (PFS) and overall survival (OS) were 50.9months (95% CI: 26.7-75.0) and 80.9months (60.1-101.6). By multivariate analysis, A-IDHwt (p = 0.009; p = 0.019), 7p gain and 10q loss (p = 0.009; p = 0.016) and vimentin positive staining (p = 0.011; p = 0.029) were associated with poor PFS and OS respectively. Insular low-grade A-IDHwt presented with poor prognosis despite a smaller tumor core and no evidence of increased perfusion on MR imaging.

Rasmussen syndrome: absence seizures may be induced by oxcarbazepine

A female patient with electroclinical and neuroradiological features compatible with Rasmussen syndrome developed a particular clinical and EEG pattern. As the seizures were refractory to valproate at 750mg/kg/day, oxcarbazepine (OXC) at 30mg/kg/day was added. Seizures became more frequent and on neurological examination, no hemiparesis was detected. The interictal EEG showed focal spikes and diffuse paroxysms in the right fronto-temporal regions. Brain MRI revealed right hemiatrophy, mainly at the Sylvian fissure. After initiating OXC daily, brief absence seizures, lasting less than 20 seconds and associated with bilateral and synchronous 2.5-3-Hz spike-and-waves compatible with typical absences, were observed. OXC was discontinued and the typical absences disappeared. Treatment with intravenous gammaglobulin was started. At the last control visit, at nine years of age, no absence seizures were observed either by the parents or on the EEG recording. Our patient who met the diagnostic criteria for Rasmussen syndrome presented with absence seizures that may have been induced by OXC. The absence seizures disappeared after OXC was discontinued.

Predictors of Evolution Into Multiple Sclerosis After a First Acute Demyelinating Syndrome in Children and Adolescents.

Background/Objective: The aim of the study was to estimate the rate of evolution or for multiple sclerosis (MS), after a first acute demyelinating event (ADE) in pediatric patients, and to investigate the variables that predict this evolution.Methods: We retrospectively evaluated the clinical and neuroradiological features of children who presented a first ADE between January 2005 and April 2017. All patients included underwent a baseline MRI, a cerebrospinal fluid and blood analysis, including virological examinations. The evolution into MS was determined by the 2013 International Pediatric Multiple Sclerosis Study Group (IPMSSG) criteria. Clinical and radiological features predictive of MS were determined using multivariate analyses.Results: Ninety-one patients were selected (mean age at onset: 10.11 ± 4.6). After a mean follow-up of 5.6 ± 2.3 years, 35% of patients' conditions evolved to MS. In the logistic multivariate analysis of clinical and laboratory data, the best predictors of evolution into MS were: the presence of oligoclonal bands in CSF (p < 0.001), past infection with EBV (p < 0.001), periventricular lesions (p < 0.001), hypointense lesions on T1 (p < 0.001), and lesions of the corpus callosum (p < 0.001) including Dawson fingers (p < 0.001).Conclusion: Our findings suggest that a pattern of neuroimaging and laboratory findings may help to distinguish between, at clinical onset, children with a monophasic syndrome (clinically isolated syndrome or acute disseminated encephalomyelitis) from those who will develop MS.

Characteristics of Acute Spontaneous Intracerebral Hemorrhage in Patients Receiving Oral Anticoagulants

ObjectiveWe investigated the precise clinical and radiologic characteristics of intracerebral hemorrhage associated with direct oral anticoagulant use. MethodsPatients with acute spontaneous intracerebral hemorrhage admitted to our department from September 2014 to November 2017 were retrospectively analyzed. Clinical and neuroradiological characteristics of patients with direct oral anticoagulant-related intracerebral hemorrhage, and effects of prior treatment on the severity at admission and on outcome at discharge were assessed. ResultsOf the 301 enrolled patients (103 women; median age 68 years), 261 received no oral anticoagulants (86.8%), 20 received warfarin (6.6%), and 20 received direct oral anticoagulants (DOACs) (6.6%). Median initial National Institutes of Health Stroke Scale scores differed significantly among the groups (P = .0283). Systolic blood pressure (P = .0031) and estimated glomerular filtration rate (P = .0019) were significantly lower in the oral anticoagulant-related intracerebral hemorrhage group than in other groups. Total small vessel disease scores were significantly higher in the oral anticoagulant-related intracerebral hemorrhage group than in the warfarin group (P = .0413). Multivariate analysis revealed that prior oral anticoagulant treatment (odds ratio: 0.21, 95% confidence interval: 0.05-0.96, P = .0445) was independently negatively associated with moderate-to-severe neurological severity (stroke scale score ≥10) after adjusting for intracerebral hemorrhage location and various risk factors. There were significant differences in hematoma volume in the basal ganglia (P = .0366). ConclusionsDOAC-related intracerebral hemorrhage may occur particularly in patients with a high risk of bleeding; however, they had a milder initial neurological severity than those with warfarin-related intracerebral hemorrhage, possibly due to relatively smaller hematoma volume, especially in the basal ganglia.

Papillary glioblastoma exhibiting a neuroradiological cyst with a mural nodule

Rationale:Glioblastomas are malignant, infiltrating gliomas classified as grade IV by the World Health Organization. Genetically, most glioblastomas do not exhibit the isocitrate dehydrogenase (IDH) 1/2 gene mutation and rarely harbor the 1p/19q co-deletion. Neuroradiologically, glioblastomas rarely form a cyst with a mural nodule lesion.Patient concerns:In this study, a 78-year-old woman, with speech difficulty and forgetfulness, had a cystic tumor with a mural nodule in the right frontoparietal lobe. Therefore, partial tumor resection was performed.Diagnosis:Histopathology of the tumor, a glioblastoma, exhibited pseudopapillary features with non-hyalinized capillary cores and rich mini-gemistocytic cells. Genetic analysis of the tumor revealed co-deletion of 1p36/19q13, with wild-type IDH.Interventions:The patient underwent a combination of postoperative radiotherapy and temozolomide chemotherapy before leaving the hospital. After discharge, she was treated by 20 courses of temozolomide chemotherapy.Outcomes:The patient is free from tumor recurrence 23 months after the operation.Lessons:We present a unique case of glioblastoma that exhibited novel neuroradiological, histopathological, and genetic features with a favorable prognosis for the patient. Therefore, a compilation of similar cases with clinicopathological and genetic analyses to characterize this unique glioblastoma is critical. Clinical evidence will help develop effective therapeutic approaches to improve prognosis in patients with glioblastoma.

Epileptic discharges in the acute phase of stroke using long-term EEG monitoring

Event Abstract Back to Event Epileptic discharges in the acute phase of stroke using long-term EEG monitoring Silke Proesmans1, 2, Veerle De Herdt1, 2*, Stephanie Hödl1, 2, Helena Janssen2, Dimitri Hemelsoet2 and Paul Boon1, 2 1 Ghent University, 4Brain lab, Belgium 2 Ghent University Hospital, Department of Neurology, Belgium Background Stroke is a common cause of seizures, especially in the elderly population. However, the incidence, associated factors and influence on outcome of interictal epileptic discharges and subclinical electrographic seizures in the acute phase of stroke are unknown. Methods In this prospective study, 35 patients underwent long-term video-EEG monitoring within 3 days after intracerebral haemorrhage or ischemic stroke. Epileptic activity on the EEG was analysed and correlated with clinical and neuroradiological patient characteristics, the occurrence of clinical seizures and outcome. Results Epileptic activity, a term comprising electrographic seizures, spikes and spike waves, was seen on the EEGs of 8/35 (23%) patients. 3/35 (9%) of patients had electrographic seizures and spikes or spike waves were seen in 6/35 (17%) of subjects. Ictal electrographic activity and early clinical seizures (<7 days post-stroke) were significantly correlated (p=0.018) in patients with ischemic stroke. No other significant associations were found between the occurrence of epileptic discharges and clinical or radiological features, nor with outcome. Conclusion In this study, epileptic discharges were frequently seen in the acute phase post-stroke. Ictal electrographic activity was associated with the occurrence of early clinical seizures. However, there was no association between electroencephalographic epileptic activity and outcome. Keywords: ischemic stroke, intracerebral hemorrhage, Stroke, Epilepsy, Epileptic discharges, human Conference: 13th National Congress of the Belgian Society for Neuroscience , Brussels, Belgium, 24 May - 24 May, 2019. Presentation Type: Poster presentation Topic: Behavioral/Systems Neuroscience Citation: Proesmans S, De Herdt V, Hödl S, Janssen H, Hemelsoet D and Boon P (2019). Epileptic discharges in the acute phase of stroke using long-term EEG monitoring. Front. Neurosci. Conference Abstract: 13th National Congress of the Belgian Society for Neuroscience . doi: 10.3389/conf.fnins.2019.96.00070 Copyright: The abstracts in this collection have not been subject to any Frontiers peer review or checks, and are not endorsed by Frontiers. They are made available through the Frontiers publishing platform as a service to conference organizers and presenters. The copyright in the individual abstracts is owned by the author of each abstract or his/her employer unless otherwise stated. Each abstract, as well as the collection of abstracts, are published under a Creative Commons CC-BY 4.0 (attribution) licence (https://creativecommons.org/licenses/by/4.0/) and may thus be reproduced, translated, adapted and be the subject of derivative works provided the authors and Frontiers are attributed. For Frontiers’ terms and conditions please see https://www.frontiersin.org/legal/terms-and-conditions. Received: 23 Apr 2019; Published Online: 27 Sep 2019. * Correspondence: Prof. Veerle De Herdt, Ghent University, 4Brain lab, Ghent, Belgium, veerle.deherdt@uzgent.be Login Required This action requires you to be registered with Frontiers and logged in. To register or login click here. Abstract Info Abstract The Authors in Frontiers Silke Proesmans Veerle De Herdt Stephanie Hödl Helena Janssen Dimitri Hemelsoet Paul Boon Google Silke Proesmans Veerle De Herdt Stephanie Hödl Helena Janssen Dimitri Hemelsoet Paul Boon Google Scholar Silke Proesmans Veerle De Herdt Stephanie Hödl Helena Janssen Dimitri Hemelsoet Paul Boon PubMed Silke Proesmans Veerle De Herdt Stephanie Hödl Helena Janssen Dimitri Hemelsoet Paul Boon Related Article in Frontiers Google Scholar PubMed Abstract Close Back to top Javascript is disabled. Please enable Javascript in your browser settings in order to see all the content on this page.

Evaluation of MYORG mutations as a novel cause of primary familial brain calcification.

Very recently, the MYORG gene was identified as a novel causative gene for autosomal-recessive primary familial brain calcification. To investigate the clinical, genetic, and neuroradiological characteristics of primary familial brain calcification patients with biallelic MYORG mutations in China. We collected clinical and neuroradiological data of 169 Chinese patients with primary familial brain calcification, including 151 sporadic patients and 18 patients from 13 families compatible with an autosomal-recessive mode of inheritance. Mutational analysis of MYORG was performed in the cohort. We identified four, including three novel, MYORG mutations segregating in four families with 5 patients: one nonsense mutation (c.1431C>A, p.Y477*), one missense mutation (c.687G>T, p.W229C), and two nonframeshift indels (c.348_349insCTGGCCTTCCGC, p.116_117insLAFR; c. 428_442delTGCACTTCTTCATCC, p.143_147delLHFFI). The 12-base-pair insertion, c.348_349insCTGGCCTTCCGC, was found in either homozygous or heterozygous state in 2 probands of our cohort and another Chinese primary familial brain calcification patient previously reported on in the literature. Haplotype analysis of our patients harboring the insertion indicated a founder effect in the ethnic Han Chinese population. To date, biallelic MYORG mutations have been reported in 17 patients (including our cohort). Most patients were symptomatic (13 of 17; 76.5%), and the most recurrent symptoms were movement disorders (10 of 17; 58.8%), cognitive decline (7 of 17; 41.2%), and cerebellar symptoms (6 of 17; 35.3%). All patients had calcifications on comprehensive cranial CT, most frequently located in the basal ganglia (17 of 17; 100%), cerebellum (17 of 17; 100%), subcortical white matter (14 of 17; 82.4%), and thalamus (13 of 17; 76.5%). We confirmed MYORG as a novel causative gene for primary familial brain calcification and further expanded the mutational and phenotypic spectrum of MYORG-related primary familial brain calcification. © 2018 International Parkinson and Movement Disorder Society.

CASE OF CENTRAL NEUROCYTOMA

The aim of studywas to describe a clinical case of central neurocytoma formation and course.Materials and methods.Patient C., 33 years old, admitted to the neurosurgical department of Regional Clinical Hospital with complaints of headache and sleep disturbance that troubled her for 2 months. No chronic diseases were detected. During the stay in the hospital, the patient was carried out a number of examinations: assessment of laboratory parameters in dynamics, magnetic resonance imaging of the brain, examination by specialists (neurologist, neuroophthalmologist).Results.Magnetic resonance imaging of the brain revealed a solid volume cystic formation of the left frontal lobe. Bone plastic trepanation and microsurgical removal of the intracerebral cystic tumor in the left frontal area were performed. Revealed neuroradiological and histological characteristics allowed differentiation of neurocytoma from other histological variants. According to magnetic resonance imaging no tumor growth was observed 5 months after surgery. A course of radiation therapy was conducted.Conclusion.This clinical case presented the peculiarities of the course, diagnosis, surgery and immunohistochemical analysis of patient with central neurocytoma.

Study protocol on Alzheimer\u2019s disease and related disorders: focus on clinical and imaging predictive markers in co-existing lesions

BackgroundOne of the crucial challenges for the future of therapeutic approaches to Alzheimer’s disease (AD) is to target the main pathological processes responsible for disability and dependency. However, a progressive cognitive impairment occurring after the age of 70, the main population affected by dementia, is often related to mixed lesions of neurodegenerative and vascular origins. Whereas young patients are mostly affected by pure lesions, ageing favours the occurrence of co-lesions of AD, cerebrovascular disease (CVD) and Lewy body dementia (LBD). Most of clinical studies report on functional and clinical disabilities in patients with presumed pure pathologies. But, the weight of co-morbid processes involved in the transition from an independent functional status to disability in the elderly with co-lesions still remains to be elucidated. Neuropathological examination often performed at late stages cannot answer this question at mild or moderate stages of cognitive disorders. Brain MRI, Single Photon Emission Computed Tomography (SPECT) with DaTscan®, amyloid Positron Emission Tomography (PET) and CerebroSpinal Fluid (CSF) AD biomarkers routinely help in performing the diagnosis of underlying lesions. The combination of these measures seems to be of incremental value for the diagnosis of mixed profiles of AD, CVD and LBD. The aim is to determine the clinical, neuropsychological, neuroradiological and biological features the most predictive of cognitive, behavioral and functional impairment at 2 years in patients with co-existing lesions.MethodsA multicentre and prospective cohort study with clinical, neuro-imaging and biological markers assessment will recruit 214 patients over 70 years old with a cognitive disorder of AD, cerebrovascular and Lewy body type or with coexisting lesions of two or three of these pathologies and fulfilling the diagnostic criteria for dementia at a mild to moderate stage. Patients will be followed every 6 months (clinical, neuropsychological and imaging examination and collection of cognitive, behavioural and functional impairment) for 24 months.DiscussionThis study aims at identifying the best combination of markers (clinical, neuropsychological, MRI, SPECT-DaTscan®, PET and CSF) to predict disability progression in elderly patients presenting coexisting patterns.Trial registrationNCT02052947.

Cerebellar radiological abnormalities in children with neurofibromatosis type 1: part 1 - clinical and neuroimaging findings

BackgroundMany children with neurofibromatosis type 1 (NF1) have focal abnormal signal intensities (FASI) on brain MRI, whose full clinical impact and natural history have not been studied systematically. Our aims are to describe the clinical and neuroradiological features in children with NF1 and cerebellar FASI, and report on the natural history of FASI that display atypical features such as enhancement and mass effect.MethodA retrospective review of the hospital charts and brain MRIs was performed on children from Manitoba diagnosed between 1999 and 2008 with NF1, who also had cerebellar FASI on MRI.ResultsFifty patients (mean age: 16.1y, minimum-maximum: 6.4 - 30y, 27 M) were identified. Mean duration of follow up was 10.1y. Developmental delay, learning disabilities, tumors, and visual signs occurred commonly. Cerebellar signs were not reported. Mean age of the patients at baseline MRI was 7.8 (SD: 4.5) years. FASI occurred in several brain locations and were rarely confined to the cerebellum. FASI displayed mass effect and enhancement infrequently but were associated with malignancy only once. The number of FASI at baseline MRI was significantly less in patients with attention deficient hyperactivity disorder and more if a first degree relative had NF1 or if they had decreased visual acuity.DiscussionPatients with NF1 and cerebellar FASI do not have motor or consistent non-motor (e.g. developmental delay or learning disabilities) cerebellar features. The number of FASI may correlate with some clinical features. FASI may display enhancement and mass effect but they rarely become malignant.

Trombosis de senos venosos durales: análisis clínico y neuroradiológico de 10 casos consecutivos en el hospital México entre enero y diciembre del 2013.

La trombosis de senos venosos durales (TSVD) es una emergencia neurológica poco común y potencialmente mortal. Su incidencia anual se estima entre 2-7 casos por millón de habitantes. La oclusión repentina de un seno venoso por un trombo causa un incremento agudo de la presión intracraneal provocando hipertensión intracraneal. Debido a la ruptura de venas corticales tanto hemorragia cerebral parenquimatosa como hemorragia subaracnoidea pueden estar presentes en el TAC de cerebro sin contraste. Su diagnóstico puede ser un reto. Una alta sospecha clínica se requiere para su diagnóstico temprano. Actualmente con el uso de la venografía por TAC o por RM su diagnóstico es menos difícil. La mayoría de los pacientes se recuperan sin ninguna lesión neurológica residual. En TVSD el inicio rápido de la anticoagulación es mandatoria para repermeabilizar el seno venoso ocluido. Ni la hemorragia cerebral parenquimatosa ni la hemorragia subaracnoidea contraindican la anticoagulación. Se describen las principales características demográficas, factores de riesgo, hallazgos clínicos, características neuroradiológicas, tratamiento y evolución de 10 pacientes consecutivos con el diagnóstico de TVSD en un único hospital público de Costa Rica.

The role of clinical and neuroimaging features in the diagnosis of CADASIL

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common familial cerebral small vessel disease, caused by NOTCH3 gene mutations. The aim of our study was to identify clinical and neuroradiological features which would be useful in identifying which patients presenting with lacunar stroke and TIA are likely to have CADASIL. Patients with lacunar stroke or TIA were included in the present study. For each patient, demographic and clinical data were collected. MRI images were centrally analysed for the presence of lacunar infarcts, microbleeds, temporal lobe involvement, global atrophy and white matter hyperintensities. 128 patients (mean age 56.3 ± 12.4years) were included. A NOTCH3 mutation was found in 12.5% of them. A family history of stroke, the presence of dementia and external capsule lesions on MRI were the only features significantly associated with the diagnosis of CADASIL. Although thalamic, temporal pole gliosis and severe white matter hyperintensities were less specific for CADASIL diagnosis, the combination of a number ofthese factors together with familial history for stroke result in a higher positive predictive value and specificity. A careful familial history collection and neuroradiological assessment can identify patients in whom NOTCH3 genetic testing has a higher yield.

Tuberous sclerosis-associated neuropsychiatric disorders: a paediatric cohort study.

We aimed to study tuberous sclerosis-associated neuropsychiatric disorders (TAND) in children and adolescents with tuberous sclerosis complex (TSC). Retrospective and prospective cohort study conducted at a Paediatric Neurology Unit of an Italian Tertiary Care Hospital. Clinical and neuroimaging data were reviewed. Scores for neurological and epilepsy outcomes (Extended Glasgow Outcome Scale, Paediatric Version and Early Childhood Epilepsy Severity Scale modified), semi-structured interviews (authorized Italian version of the TAND checklist and Vineland Adaptive Behavior Scales) and questionnaires (Child Behavior Checklist [CBCL]) were applied at last follow-up. Thirty-two patients with TSC (age range 1-19y) were enrolled. Eighty-eight per cent had at least one TAND and 47% had intellectual disability. The TAND checklist showed internalizing problems in 25.8% of cases (vs 41.9% by CBCL), and externalizing problems in 41.9% (vs 9.7% by CBCL). TAND prevailed in patients with de novo mutation of TSC2, high tuber load, and severe neurological and epilepsy outcomes. In our cohort, 78% of patients had more than four TAND behavioural problems; nevertheless, they did not show a constant and specific neuropsychiatric profile. Clinical, neurophysiological, and neuroradiological features were associated with several TAND. The TAND checklist appeared more effective than the CBCL, particularly in detecting externalizing problems. The Tuberous sclerosis-associated neuropsychiatric disorders (TAND) checklist is an effective tool for TAND screening. The TAND checklist helps define psychopathological and neuropsychiatric aspects in paediatric patients with Tuberous sclerosis complex (TSC). TAND were found in 88% of patients with TSC, whilst 78% had more than four TAND. TAND distribution depends on different clinical and neuroradiological features.

Mimickers of neuropsychiatric manifestations in systemic lupus erythematosus.

Systemic lupus erythematosus (SLE), presenting with new onset or worsening neuropsychiatric (NP) symptoms, is a challenge in clinical practice. Mimickers such as infections, drug-induced side effects, metabolic abnormalities, malignancies, and alcohol-related disorders have to be excluded, before attributing the manifestations to disease activity. Proper diagnosis is essential to guide adequate management and reduce morbidity and mortality. In this review article, we will highlight clinical, laboratorial, and neuroradiological features that are helpful to assist in the differential diagnosis.

Conventional, diffusion, and permeability MR findings in ocular medulloepithelioma.

To describe the neuroradiological features of intraocular medulloepithelioma. We retrospectively analyzed the clinical, histopathological, and MRI data of five children with medulloepithelioma. In addition to conventional images, DWI was performed in four patients and mean ADC was calculated; this was limited to the technique of this cohort of patients. DCE was performed in all patients. This is the first paper that presents diffusion and perfusion characteristics of medulloepithelioma. Four tumors were malignant teratoid variants, two non-teratoid variants. Tumors were hyperintense on T1-weighted images and hypointense on T2-weighted images. Calcifications were detectable in two out of five tumors. Cavities were detectable in three out of five tumors. All tumors showed some degree of enhancement. The mean ADC of all four patients was 1.156 ± 242.75 × 10-3mm2/s. Mean ktrans, Ve, Kep, TME, AUC, SER, and peak enhancement were 0.082 ± 0.054, 0.19 ± 0.076, 0.31 ± 0.084, 0.97 ± 0.0784, 1.22 ± 0.81, 67.34 ± 31.7, and 14.84 ± 7.34 respectively. TICs showed a very high ratio of slow increase, > 50% persistence and some degree of wash out. Teratoid variants showed higher K-trans, AUC, VE, TME, and persistent TIC pattern than non-teratoid ones, while plateau pattern ratio was lower. Conventional MR findings were similar to previously reported cases. Mean ADCs were moderately high. TICs showed slow increase and presence of wash out. K-trans, AUC, VE, and TME were higher in teratoid variants. Permeability parameters in differential diagnosis with lesions mimicking medulloepithelioma need further investigations.