scholarly journals Angelman Syndrome: A Rare Case Report

2020 ◽  
Vol 6 (2) ◽  
pp. 79-82
Author(s):  
Balkrishn Gaur ◽  
Gopa Kumar R. Nair ◽  
Vinay Mohan ◽  
Suneel Kumar Gupta
Keyword(s):  
Angelman Syndrome ◽  
Neurodevelopmental Disorder ◽  
Brain Magnetic Resonance Imaging ◽  
Screening Tests ◽  
Speech Delay ◽  
Resonance Imaging ◽  
Severe Intellectual Disability ◽  
Rare Case Report ◽  
Metabolic Screening ◽  
Magnetic Resonance Imaging Mri

Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by severe intellectual disability, speech delay, dysmorphic features, cognitive impairment, seizures as well as a unique behaviour with an inappropriate happy demeanor. This article discuss the case of an eight year old male patient with the chief complain of dental pain but presented with the signs of AS. He appeared hyperactive and easily excitable with an unusual laughing facial expression. His speech was impaired and showed unusual fascination towards water. Metabolic screening tests and brain Magnetic Resonance Imaging (MRI) revealed no abnormality. Genetic analysis is pathognomonic for Angelman Syndrome.

scholarly journals A multi-center diagnostic accuracy study on nine Prehospital Stroke Screening Scales

2020 ◽  
Author(s):  
Peyman Saberian ◽  
Hosein Rafiemanesh ◽  
Farhad Heydari ◽  
Sahar Mirbaha ◽  
Somayeh Karimi ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Ischemic Stroke ◽  
Magnetic Resonance ◽  
Brain Magnetic Resonance Imaging ◽  
Screening Tests ◽  
Diagnostic Accuracy Study ◽  
Resonance Imaging ◽  
Clinical Scales ◽  
Accuracy Study ◽  
Magnetic Resonance Imaging Mri

Abstract Background: Stroke is one of the most common debilitating diseases. Although effective treatment is available, but a golden-time has been defined in this regard. Therefore, prompt action is needed to identify patients with stroke as soon as possible, even in the pre-hospital stage. In recent years, several clinical scales have been introduced for this purpose. We performed the present study to examine the accuracy of 9 clinical scales in terms of stroke diagnosis.Methods: This multi-center diagnostic accuracy study has been conducted during 2019. All patients older than 18 years, presenting to ED, who had undergone brain magnetic resonance imaging (MRI) due to suspicion of stroke were eligible. All data were gathered in a pre-designed checklist consisting of 3 sections, using the clinical profiles of the patients. The first section of the checklist included baseline characteristics and demographic data. The second part included physical examination findings of 19 items related to the 9 scales. The third part was dedicated to the final diagnosis based on the interpretation of brain magnetic resonance imaging (MRI), which was considered the gold standard method for acute ischemic stroke (AIS) diagnosis in the current study.Results: Data of 805 patients suspected to stroke were analyzed. Of all, 463 (57.5%) patients were male. Participants’ age was between 6 and 95 years and their mean age was 66.9 years (SD=13.9). Off all the enrolled patients, 562 patients (69.8%) had acute ischemic stroke. The accuracy of screening tests was between 63.0% and 84.4%. Their sensitivity and specificity were between 50.2% to 95.7% and 46.5% to 92.2%, respectively. Among all the screening tests, RACE had the lowest sensitivity (50.2%) and MedPACS had the highest (95.7%). In addition, PreHAST had the lowest specificity (46.5%) and RACE had the highest (92.2%).Conclusion: Based on the findings of the present study, highly sensitive tests that can be used in this regard are CPSS, FAST and MEDPACS, all of which have about 95% sensitivity. On the other hand, none of the studied tools were desirable (specificity above 95%) in any of the examined cut-offs.

scholarly journals Identifying a Common Functional Framework for Apathy Large-Scale Brain Network

2021 ◽  
Vol 11 (7) ◽  
pp. 679
Author(s):  
Vincenzo Alfano ◽  
Mariachiara Longarzo ◽  
Giulia Mele ◽  
Marcello Esposito ◽  
Marco Aiello ◽  
...  
Keyword(s):  
Large Scale ◽  
Brain Magnetic Resonance Imaging ◽  
Brain Network ◽  
Neural Pathways ◽  
Resonance Imaging ◽  
Daily Life Activities ◽  
Functional Differences ◽  
Central Gyrus ◽  
Magnetic Resonance Imaging Mri ◽  
Disease Specific

Apathy is a neuropsychiatric condition characterized by reduced motivation, initiative, and interest in daily life activities, and it is commonly reported in several neurodegenerative disorders. The study aims to investigate large-scale brain networks involved in apathy syndrome in patients with frontotemporal dementia (FTD) and Parkinson’s disease (PD) compared to a group of healthy controls (HC). The study sample includes a total of 60 subjects: 20 apathetic FTD and PD patients, 20 non apathetic FTD and PD patients, and 20 HC matched for age. Two disease-specific apathy-evaluation scales were used to measure the presence of apathy in FTD and PD patients; in the same day, a 3T brain magnetic resonance imaging (MRI) with structural and resting-state functional (fMRI) sequences was acquired. Differences in functional connectivity (FC) were assessed between apathetic and non-apathetic patients with and without primary clinical diagnosis revealed, using a whole-brain, seed-to-seed approach. A significant hypoconnectivity between apathetic patients (both FTD and PD) and HC was detected between left planum polare and both right pre- or post-central gyrus. Finally, to investigate whether such neural alterations were due to the underlying neurodegenerative pathology, we replicated the analysis by considering two independent patients’ samples (i.e., non-apathetic PD and FTD). In these groups, functional differences were no longer detected. These alterations may subtend the involvement of neural pathways implicated in a specific reduction of information/elaboration processing and motor outcome in apathetic patients.

Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients

2018 ◽  
Vol 33 (11) ◽  
pp. 713-717 ◽  
Author(s):  
Afnan AlGhamdi ◽  
Muhammad Talal Alrifai ◽  
Abdullah I. Al Hammad ◽  
Fuad Al Mutairi ◽  
Abdulrahman Alswaid ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Case Series ◽  
Brain Magnetic Resonance Imaging ◽  
Propionic Acidemia ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Epileptiform Discharges ◽  
Magnetic Resonance Imaging Mri ◽  
Autosomal Recessive Manner ◽  
Delayed Myelination

Propionic acidemia is an inborn error of metabolism that is inherited in an autosomal recessive manner. It is characterized by a deficient propionyl-CoA carboxylase due to mutations in either of its beta or alpha subunits. In the literature, there is a clear association between propionic acidemia and epilepsy. In this cohort, we retrospectively reviewed the data of 14 propionic acidemia patients in Saudi Arabia and compared the findings to those of former studies. Six of the 14 (43%) patients developed epileptic seizure, mainly focal seizures. All patients were responsive to conventional antiepileptic drugs as their seizures are controlled. The predominant electroencephalographic (EEG) findings were diffuse slowing in 43% and multifocal epileptiform discharges in 14% of the patients. In 1 patient, burst suppression pattern was detected, a pattern never before reported in patients with propionic acidemia. Brain magnetic resonance imaging (MRI) findings mainly consisted of signal changes of the basal ganglia (36%), generalized brain atrophy (43%), and delayed myelination (43%).The most common genotype in our series is the homozygous missense mutation in the PCCA gene (c.425G>A; p. Gly142Asp). However, there is no clear genotype–seizure correlation. We conclude that seizure is not an uncommon finding in patients with propionic acidemia and not difficult to control. Additional studies are needed to further elaborate on genotype–seizure correlation.

scholarly journals Can we evaluate cranial aneurysms on conventional brain magnetic resonance imaging?

2016 ◽  
Vol 7 (01) ◽  
pp. 83-86 ◽  
Author(s):  
Emine Caliskan ◽  
Yeliz Pekcevik ◽  
Adnan Kaya
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Characteristic Curve ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Kappa Statistics ◽  
Resonance Imaging ◽  
Vascular Structures ◽  
Magnetic Resonance Imaging Mri ◽  
Age Range

ABSTRACT Purpose: To evaluate the contribution of conventional brain magnetic resonance imaging (MRI) for the determination of intracranial aneurysms. Materials and Methods: Brain MRI and computed tomography angiography (CTA) of 45 patients (29 women and 16 men; age range, 32–80 years) with aneurysm were analyzed. A comparison was made between brain MRI and CTA based on size and presence of aneurysm. The comparisons between MRI and CTA were investigated through Bland-Altman graphics, receiver operating characteristic curve, and Kappa statistics. Results: Fifty-seven aneurysms were evaluated. Forty-five percent of 57 aneurysms on CTA were detected on conventional brain MRI. A significant correlation was found between CTA and brain MRI in the diagnosis of aneurysm (P < 0.05). In an analysis of the size measurement, a significant correlation was observed between CTA and brain MRI. Seventy-seven percent of aneurysms <4 mm was not detected and the efficiency of MRI in the detection of aneurysms <4 mm was found to be low. Conclusion: Aneurysms can also be appreciated on conventional brain MRI, and vascular structures should be reviewed carefully while analyzing brain MRI.

Brain magnetic resonance imaging does not contribute to the diagnosis of chronic neuroborreliosis

2007 ◽  
Vol 48 (7) ◽  
pp. 755-762 ◽  
Author(s):  
A. Aalto ◽  
J. Sjöwall ◽  
L. Davidsson ◽  
P. Forsberg ◽  
Ö. Smedby
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Disease Duration ◽  
Brain Magnetic Resonance Imaging ◽  
White Matter Lesions ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Significant Difference ◽  
Fluid Attenuated Inversion Recovery ◽  
Magnetic Resonance Imaging Mri

Background: Borrelia infections, especially chronic neuroborreliosis (NB), may cause considerable diagnostic problems. This diagnosis is based on symptoms and findings in the cerebrospinal fluid but is not always conclusive. Purpose: To evaluate brain magnetic resonance imaging (MRI) in chronic NB, to compare the findings with healthy controls, and to correlate MRI findings with disease duration. Material and Methods: Sixteen well-characterized patients with chronic NB and 16 matched controls were examined in a 1.5T scanner with a standard head coil. T1- (with and without gadolinium), T2-, and diffusion-weighted imaging plus fluid-attenuated inversion recovery (FLAIR) imaging were used. Results: White matter lesions and lesions in the basal ganglia were seen in 12 patients and 10 controls (no significant difference). Subependymal lesions were detected in patients down to the age of 25 and in the controls down to the age of 43. The number of lesions was correlated to age both in patients (ρ = 0.83, P<0.01) and in controls (ρ = 0.61, P<0.05), but not to the duration of disease. Most lesions were detected with FLAIR, but many also with T2-weighted imaging. Conclusion: A number of MRI findings were detected in patients with chronic NB, although the findings were unspecific when compared with matched controls and did not correlate with disease duration. However, subependymal lesions may constitute a potential finding in chronic NB.

The Implications of Brain MRI in Autism Spectrum Disorder

2016 ◽  
Vol 31 (14) ◽  
pp. 1611-1616 ◽  
Author(s):  
Alison S. Cooper ◽  
Eron Friedlaender ◽  
Susan E. Levy ◽  
Karuna V. Shekdar ◽  
Andrea Bennett Bradford ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Neurologic Examination ◽  
Resonance Imaging ◽  
Magnetic Resonance Imaging Mri ◽  
Low Prevalence

Our objective was to describe the types of providers who refer children with autism spectrum disorder (ASD) for brain magnetic resonance imaging (MRI), the referral reason, and MRI results. The most common referral reasons were autism spectrum disorder with seizures (33.7%), autism spectrum disorder alone (26.3%), and autism spectrum disorder with abnormal neurologic examination or preexisting finding (24%). Neurology (62.5%), general pediatric (22.3%), and developmental/behavioral practitioners (8.9%) referred the most patients. The prevalence of definite pathology was highest in children referred for autism spectrum disorder with abnormal neurologic examination/preexisting finding (26.2%, 95% CI: 16.8%-36%), headaches (25.7%, 95% CI: 11.2%-40.2%), or seizures (22%, 95% CI: 14.6%-29.5%), and was lowest in children referred for autism spectrum disorder alone (6.5%, 95% CI: 1.5%-11.6%). We concluded that there is a low prevalence of definite pathology in children with autism spectrum disorder undergoing brain MRI. In children with abnormal neurologic examination or preexisting finding, seizures, or headaches, one may consider performing brain MRI given the higher prevalence of pathology.

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