Neuropsychiatric Symptoms in Rhombencephalosynapsis: A Clinical Report.

Autor: Schutter DJLG; Department of Experimental Psychology, Helmholtz Institute, Utrecht University, Heidelberglaan 1, Utrecht, 3584 CS, the Netherlands. d.j.l.g.schutter@uu.nl., Doherty D; Department of Pediatrics, University of Washington School of Medicine, Seattle, USA., Phillips JO; Department of Otolaryngology, University of Washington School of Medicine, Seattle, USA., Weiss AH; Department of Ophthalmology, University of Washington School of Medicine, Seattle, USA., Maas RPPWM; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Jazyk: angličtina
Zdroj: Cerebellum (London, England) [Cerebellum] 2024 Dec; Vol. 23 (6), pp. 2671-2678. Date of Electronic Publication: 2024 Sep 04.
DOI: 10.1007/s12311-024-01740-8
Abstrakt: 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.
Competing Interests: Declarations. Conflict of interest: The authors have no biomedical financial interests or potential conflicts of interest.
(© 2024. The Author(s).)
Databáze: MEDLINE
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