Importance Of Brain Imaging Research Articles

LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.

We report three siblings from a non-consanguineous family presenting with contractural limb-girdle phenotype with intrafamilial variability. Muscle MRI showed posterior thigh and quadriceps involvement with a sandwich-like sign. Whole-exome sequencing identified two compound heterozygous missense TTN variants and one heterozygous LAMA2 variant. Brain MRI performed because of concentration difficulties in one of the siblings evidenced white-matter abnormalities, subsequently found in the others. The genetic analysis was re-oriented, revealing a novel pathogenic intronic LAMA2 variant which confirmed the LAMA2-RD diagnosis. This work highlights the importance of a thorough clinical phenotyping and the importance of brain imaging, in order to orientate and interpret the genetic analysis.

Silent Mastoiditis Associated with Pneumococcal Meningitis

Streptococcus pneumoniae (S pneumoniae) can cause a wide spectrum of diseases which includes upper respiratory tract infection as well as more severe invasive disease such as meningitis. Meningitis may be caused by invasion of the organism through the blood brain barrier, either via haematological spread or from an adjacent focus of infection such as the ears. We describe two infants with pneumococcal meningitis and silent mastoiditis. They both presented with a classical history to suggest meningitis with no apparent focus of infection. A brain imaging was done in the first infant to look for the underlying cause of his focal seizure and in the second infant, to assess for complications of meningitis, as he had a slow recovery. While they did not have any clinical signs to point towards the diagnosis, they were both diagnosed to have acute mastoiditis from brain imaging. We would like to highlight the importance of brain imaging in excluding silent mastoiditis in infants with meningitis, particularly in those whose clinical course appears atypical.

Brain imaging and behavioral outcome in traumatic brain injury.

Brain imaging studies have become an essential diagnostic assessment procedure in evaluating the effects of traumatic brain injury (TBI). Such imaging studies provide a wealth of information about structural and functional deficits following TBI. But how pathologic changes identified by brain imaging methods relate to neurobehavioral outcome is not as well known. Thus, the focus of this article is on brain imaging findings and outcome following TBI. The article starts with an overview of current research dealing with the cellular pathology associated with TBI. Understanding the cellular elements of pathology permits extrapolation to what is observed with brain imaging. Next, this article reviews the relationship of brain imaging findings to underlying pathology and how that pathology relates to neurobehavioral outcome. The brain imaging techniques of magnetic resonance imaging, computerized tomography, and single photon emission computed tomography are reviewed. Various image analysis procedures, and how such findings relate to neuropsychological testing, are discussed. The importance of brain imaging in evaluating neurobehavioral deficits following brain injury is stressed.