Agenesis of the corpus callosum is a rare congenital defect that has been linked to psychiatric disorders, cognitive deficits, learning disabilities, and developmental delays. We present the case of a patient with partial agenesis of the corpus callosum who exhibits depressed mood, transient loss of memory, and history of cognitive, social, and behavioral disturbances that developed during his childhood. Recent and pertinent literature was reviewed and the agenesis of the corpus callosum and its associated neuropsychiatric manifestations are discussed.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452548PMC
http://dx.doi.org/10.1155/2019/5925191DOI Listing

Publication Analysis

Top Keywords

agenesis corpus
16
corpus callosum
16
neuropsychiatric manifestations
8
partial agenesis
8
manifestations partial
4
agenesis
4
corpus
4
callosum
4
callosum case
4
case report
4

Similar Publications

Objective: To explore the clinical phenotype, pregnancy outcome and follow-up of fetuses with 15q11.2BP1-BP2 microdeletions in order to provide a basis for prenatal and reproductive consultation.

Methods: From March 2019 to December 2023, 20 fetuses who were diagnosed with 15q11.

View Article and Find Full Text PDF

Attention deficit/hyperactivity disorder (ADHD) is defined as a neurodevelopmental condition. The precise underlying mechanisms remain incompletely elucidated. A body of research suggests disruptions in both the cellular architecture and neuronal function within the brain regions of individuals with ADHD, coupled with disturbances in the biochemical parameters.

View Article and Find Full Text PDF

Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disorder leading to deleterious brain effects. While animal models suggested that MPS I severely affects white matter (WM), whole-brain diffusion tensor imaging (DTI) analysis was not performed due to MPS-related morphological abnormalities. 3T DTI data from 28 severe (MPS IH, treated with hematopoietic stem cell transplantation-HSCT), 16 attenuated MPS I patients (MPS IA) enrolled under the study protocol NCT01870375, and 27 healthy controls (HC) were analyzed using the free-water correction (FWC) method to resolve macrostructural partial volume effects and unravel differences in DTI metrics accounting for microstructural abnormalities.

View Article and Find Full Text PDF

Evidence indicates that neurodegenerative diseases spread through distinct brain networks. For Parkinson's disease (PD), somatosensory abnormalities may accompany motor dysfunction in early disease stages when dopaminergic degeneration is limited to the basal ganglia. It remains unclear whether, based on the network-spread account, these abnormalities emanated from aberrant functional connectivity with the basal ganglia, and whether interventions normalizing this connectivity could reverse these abnormalities.

View Article and Find Full Text PDF

NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation.

Eur J Med Genet

December 2024

CHU Lille, Institut de Génétique Médicale, F-59000 Lille, France; Univ. Lille, ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, F-59000 Lille, France. Electronic address:

The X-linked NONO gene encodes Non-Pou Domain-Containing Octamer-Binding Protein, a multifunctional member of the DBHS family involved in transcriptional regulation, RNA splicing and DNA repair. Pathogenic variants in NONO cause Intellectual Developmental Disorder, X-linked Syndromic (MIM #300967), characterised by intellectual disability, neurodevelopmental delay, cardiomyopathy, such as left ventricular non-compaction (LVNC), and congenital heart defects such as including atrial septal defect (ASD), ventricular septal defect (VSD), patent ductus arteriosus (PDA), and patent foramen ovale (PFO). This study reports three new patients with pathogenic hemizygous frameshift variants in NONO identified with exome sequencing, broadening the clinical presentation.

View Article and Find Full Text PDF

Want 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!