We describe a boy with the syndrome of Coffin-Lowry whose CT-scan showed corpus callosum agenesis. Follow-up data are given and diagnostic considerations are discussed. A review is given of the CNS-malformations so far reported in patients with the syndrome of Coffin-Lowry.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Improved deep canonical correlation fusion approach for detection of early mild cognitive impairment.
Med Biol Eng Comput
January 2025
Non-Invasive Imaging and Diagnostic Laboratory, Department of Applied Mechanics and Biomedical Engineering, Indian Institute of Technology Madras, Chennai, India.
Detection of early mild cognitive impairment (EMCI) is clinically challenging as it involves subtle alterations in multiple brain sub-anatomic regions. Among different brain regions, the corpus callosum and lateral ventricles are primarily affected due to EMCI. In this study, an improved deep canonical correlation analysis (CCA) based framework is proposed to fuse magnetic resonance (MR) image features from lateral ventricular and corpus callosal structures for the detection of EMCI condition.
View Article and Find Full Text PDFTissue Is the Issue: The Diagnosis of Butterfly Brain Lesions.
Cureus
December 2024
Neurology, Palmetto General Hospital, Hialeah, USA.
The corpus callosum can reveal a "butterfly" pattern on imaging in various conditions, including glioblastoma, primary central nervous system lymphoma, tumefactive multiple sclerosis, and toxoplasmosis. Early differentiation among these conditions is crucial to avoid aggressive treatments. In one case, a 70-year-old woman with a history of multiple sclerosis experienced a neurological decline.
View Article and Find Full Text PDFGM2 gangliosidosis is lysosomal storage disorder caused by deficiency of the heterodimeric enzyme β-hexosaminidase A. Tay-Sachs disease is caused by variants in encoding the α-subunit and Sandhoff disease is caused by variants in encoding the β-subunit. Due to shared clinical and biochemical findings, the two have been considered indistinguishable.
View Article and Find Full Text PDFAssessment of complementary white matter microstructural changes and grey matter atrophy in the 6-OHDA-induced model of Parkinson's disease.
Neuroscience
January 2025
Barrow Neuroimaging Innovation Center, Barrow Neurological Institute, Phoenix, AZ, 85013, USA. Electronic address:
Parkinson's disease (PD) is a progressive neurodegenerative disorder that is characterized by motor symptoms such as tremors, rigidity, and bradykinesia. Magnetic resonance imaging (MRI) offers a non-invasive means to study PD and its progression. This study utilized the unilateral 6-hydroxydopamine (6-OHDA) rat model of parkinsonism to assess whether white matter microstructural integrity measured using advanced free-water diffusion tensor imaging metrics (fw-DTI) and gray matter density using voxel-based morphometry (VBM) can serve as imaging biomarkers of pathological changes following nigrostriatal denervation.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!