Rhombencephalosynapsis (RES) is a hindbrain malformation characterized by a missing cerebellar vermis with apposition or fusion of the cerebellar hemispheres. The present clinical case report provides a comprehensive, longitudinal overview of cognitive and affective manifestations in a 22-year-old patient with RES. The patient shows clinical signs of emotional reactivity and dysregulation, impulsivity, and impairments in executive functioning since early childhood. These features fit the constellation of neuropsychiatric symptoms observed in patients with congenital and acquired abnormalities of the posterior vermis. It is proposed that patients with RES may show affective and cognitive difficulties which increase their vulnerability to psychological stress and risk of developing mental health issues.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11585500 | PMC |
| http://dx.doi.org/10.1007/s12311-024-01740-8 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Evaluation of sleep disorders in children and adolescents affected by Klinefelter syndrome.
Eur J Pediatr
January 2025
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.
Unlabelled: Klinefelter syndrome (KS) is the most common sex chromosomal aneuploidy in males (47,XXY karyotype in 80-90% of cases), primarily characterized by hypergonadotropic hypogonadism and infertility. It encompasses a broad phenotypic spectrum, leading to variability in neurocognitive and psychosocial outcomes among affected individuals. Despite the recognized correlation between KS and various neuropsychiatric conditions, studies investigating potential sleep disorders, particularly in pediatric subjects, are lacking.
View Article and Find Full Text PDFCorrespondence to Neuronal and Glial Metabolite Abnormalities in Participants with Persistent Neuropsychiatric Symptoms After COVID-19: A Brain Proton MRS Study.
J Infect Dis
January 2025
Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119074, Singapore.
Large Variations in Phenylalanine Concentrations Associate Adverse Cardiac Remodelling in Adult Patients With Phenylketonuria-A Long-Term CMR Study.
J Cachexia Sarcopenia Muscle
February 2025
Department of Cardiology, Angiology and Intensive Care Medicine, Deutsches Herzzentrum der Charité, Berlin, Germany.
Background: Despite a phenylalanine (Phe) restrictive diet, most adult patients with 'classical' phenylketonuria (PKU) maintain life-long Phe concentrations above the normal range and receive tyrosine (Tyr) and protein-enriched diets to maintain acceptable concentrations and ensure normal development. While these interventions are highly successful in preventing adverse neuropsychiatric complications, their long- term consequences are incompletely explored. We observed early cardiomyopathic characteristics and associated hemodynamic changes in adult PKU patients and present here the results of a longitudinal evaluation of cardiac phenotype.
View Article and Find Full Text PDFKetogenic Diet as a Nutritional Metabolic Intervention for Obsessive-Compulsive Disorder: A Narrative Review.
Nutrients
December 2024
Clinic for Adults, University Psychiatric Clinics Basel, University of Basel, 4031 Basel, Switzerland.
The substantial evidence supporting the ketogenic diet (KD) in epilepsy management has spurred research into its effects on other neurological and psychiatric conditions. Despite differences in characteristics, symptoms, and underlying mechanisms, these conditions share common pathways that the KD may influence. The KD reverses metabolic dysfunction.
View Article and Find Full Text PDFBenefits of Liver Volume and Serum Zinc Level Assessment for the Screening of Covert Hepatic Encephalopathy in Patients with Child-Pugh Class A Cirrhosis.
Diagnostics (Basel)
December 2024
Department of Gastroenterology and Hepatology, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, Nagasaki City 852-8501, Nagasaki, Japan.
: Covert hepatic encephalopathy (CHE) is associated with decreased quality of life. Detection of Child-Pugh class A is necessary for its early diagnosis. This study aimed to establish a simple diagnostic method of CHE in patients with Child-Pugh class A.
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!