scholarly journals Finnish Variant of Late Infantile Ceroid Neuronal Lipofuscinosis (fvLINCL); Atypical Finding on Magnetic Resonance Imaging

2021 ◽  
Vol 8 (4) ◽  
pp. 205-207
Author(s):  
Antonio Gomes Lima Júnior ◽  
Nina Maia Pinheiro de Abreu ◽  
João Paulo Carmo Rodrigues ◽  
Marcus Vinícius Buratti Leal ◽  
Anielly Sampaio Clarindo ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Cognitive Impairment ◽  
Magnetic Resonance ◽  
Neurodegenerative Diseases ◽  
Developmental Delay ◽  
Autosomal Recessive ◽  
Resonance Imaging ◽  
Magnetic Resonance Imaging Mri ◽  
Rare Group

Ceroid neuronal lipofuscinosis (CLN) is a rare group of autosomal recessive neurodegenerative diseases that cause developmental delay and seizures. Herein, we present a case of a 7-year-old girl who referred for magnetic resonance imaging (MRI) following cognitive impairment and seizures. MRI was performed demonstrating some usual findings, and, surprisingly, a normal-sized cerebellum. This case draws attention to not hold to just the classical imaging presentation in order to suspect some leukodystrophy.

Functional network connectivity abnormalities in multiple sclerosis: Correlations with disability and cognitive impairment

2017 ◽  
Vol 24 (4) ◽  
pp. 459-471 ◽  
Author(s):  
Maria A Rocca ◽  
Paola Valsasina ◽  
Victoria M Leavitt ◽  
Mariaemma Rodegher ◽  
Marta Radaelli ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Multiple Sclerosis ◽  
Cognitive Impairment ◽  
Magnetic Resonance ◽  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Network Connectivity ◽  
Resonance Imaging ◽  
T2 Lesions ◽  
Magnetic Resonance Imaging Mri

Objective: To investigate resting state (RS) functional connectivity (FC) abnormalities within the principal brain networks in a large cohort of multiple sclerosis (MS) patients, to define the trajectory of FC changes over disease stages and their relation with clinical and structural magnetic resonance imaging (MRI) measures. Methods: RS functional magnetic resonance imaging (fMRI), clinical, and neuropsychological evaluation were obtained from 215 MS patients and 98 healthy controls. Connectivity abnormalities and correlations with clinical/neuropsychological/imaging measures were evaluated. We analyzed seed-voxel FC with seven major hubs, producing one visual/sensory, one motor, two cognitive, one cerebellar, and two subcortical networks. Results: MS patients showed reduced network average RS FC versus controls in the default-mode network. At regional level, a complex pattern of decreased and increased RS FC was found. Reduced RS FC mainly involved sensorimotor, cognitive, thalamic, and cerebellar networks, whereas increased RS FC involved visual/sensory and subcortical networks. Reduced RS FC correlated with T2 lesions. Reduced thalamic RS FC correlated with better neuropsychological performance, whereas for all remaining networks reduced FC correlated with more severe clinical/cognitive impairment. Conclusion: Increased and decreased RS FC occurs in MS and contributes to a wide spectrum of clinical manifestations. RS FC reduction is related to T2 lesions. Such a paradigm is inverted for the thalamic network.

scholarly journals Identification of hippocampal cortical microinfarcts on postmortem 3-T magnetic resonance imaging

2021 ◽  
Author(s):  
Max Scheffler ◽  
Rares Salomir ◽  
Enrique Maturana ◽  
Marie-Louise Montandon ◽  
Enikö V. Kövari ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Cognitive Impairment ◽  
Magnetic Resonance ◽  
High Field ◽  
Correlation Study ◽  
Post Mortem ◽  
Resonance Imaging ◽  
Ultra High Field ◽  
Magnetic Resonance Imaging Mri ◽  
Double Blinded

AbstractCortical microinfarcts (CMI) are increasingly recognized in the neurological community as a biomarker related to cognitive impairment and dementia. If their radiological depiction has been largely described in experimental settings using ultra-high-field magnetic resonance imaging (MRI), less is known about their visibility on routinely used 3-T MRI. In this radiologic-pathologic correlation study, using 3-T post-mortem MRI, we searched for hippocampal CMI, in a double-blinded fashion, and found that only 4/36, or 11%, were clearly demonstrated on both radiological and histopathological exams.

Magnetic Resonance Spectroscopy in Children With Developmental Delay: Time to Look Beyond Conventional Magnetic Resonance Imaging (MRI)

2020 ◽  
pp. 088307382097800
Author(s):  
Nikhil Rajvanshi ◽  
Rahul Bhakat ◽  
Sudhir Saxena ◽  
Jitendra Rohilla ◽  
Sriparna Basu ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Magnetic Resonance Spectroscopy ◽  
Developmental Delay ◽  
Visual Assessment ◽  
Resonance Spectroscopy ◽  
Resonance Imaging ◽  
Behavioral Abnormalities ◽  
Magnetic Resonance Imaging Mri

Developmental delay (DD) is an important long-term neuromorbidity owing to various insults to the developing brain and neuroimaging plays a key role in evaluating these children. Magnetic resonance spectroscopy (MRS) is the only noninvasive method to determine the levels of various metabolites in the brain which aids in delineating the underlying abnormalities. A total of 48 children aged between 6 months to 6 years with developmental delay were included and evaluated with neuroimaging in our study. Sensitivity of MRS in children with DD and DD plus (DD along with seizures, abnormal motor findings, behavior, brainstem evoked response audiometry, visual assessment, and microcephaly) was 81.2% and 89.6% respectively. 86.6% of children with microcephaly had abnormal MRS. MRS detected abnormalities in two-thirds of children with normal magnetic resonance imaging (MRI). Children with behavioral abnormalities had significantly lower N-acetyl aspartate (NAA)–creatine and NAA-choline ratios on MRS. Thus, MRS is additive to MRI in delineating the underlying pathophysiology in children with DD.

Identifying Clinical Clues in Children With Global Developmental Delay / Intellectual Disability With Abnormal Brain Magnetic Resonance Imaging (MRI)

2020 ◽  
pp. 088307382097733
Author(s):  
Abdullah Alamri ◽  
Yaser I. Aljadhai ◽  
Abdullah Alrashed ◽  
Bandar Alfheed ◽  
Roba Abdelmoaty ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Intellectual Disability ◽  
Magnetic Resonance ◽  
Developmental Delay ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Global Developmental Delay ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Magnetic Resonance Imaging Mri

Global developmental delay / intellectual disability are common pediatric conditions. Brain magnetic resonance imaging (MRI), although an important diagnostic tool in the evaluation of these patients, often requires general anesthesia. Recent literature suggests that unnecessary general anesthesia exposure should be avoided in early years because of possible long-term negative neurodevelopmental sequelae. This study sought to identify clinical clues associated with brain MRI abnormalities in children with global developmental delay / intellectual disability in an attempt to provide guidance to physicians on selecting patients who would benefit from an MRI. Retrospective chart review analysis was conducted for patients presenting to a pediatric neurology tertiary care center between 2014 and 2017 for a first clinic evaluation for global developmental delay / intellectual disability. Detailed clinical history and physical examination findings were analyzed and correlated with brain MRI findings. The majority (218/327, 67%) of children referred for evaluation of global developmental delay / intellectual disability underwent complete clinical and radiologic evaluations. Mean age was 37.9 months (±32.5 standard deviation) and 116 were males (53%). Motor deficits were predominant in most subjects (122/218, 56%). Abnormal MRI findings were observed in 153 children (70%), with the most prevalent abnormalities noted within the white matter (104/153, 68%), corpus callosum (77/153, 50%), and the hippocampus (50/153, 33%). Abnormal MRI findings were prevalent in children with predominant motor delay (84, 69%) and cognitive disability (3, 100%) as well as those with visual and hearing impairment ( P < .05). The presence of facial dysmorphisms (57/71, P = .02); cranial nerve abnormalities (79/100; P = .007) and abnormal reflexes (16, P = .01) on examination also correlated significantly with increased MRI abnormalities.

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