Department of Experimental Psychology, Helmholtz Institute, Utrecht University, Heidelberglaan 1, Utrecht, 3584 CS, the Netherlands.
Department of Pediatrics, University of Washington School of Medicine, Seattle, USA.
Cerebellum. 2024 Dec;23(6):2671-2678. doi: 10.1007/s12311-024-01740-8. Epub 2024 Sep 4.
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.
菱形脑结合（RES）是一种后脑畸形，其特征是小脑蚓部缺失，小脑半球对位或融合。本临床病例报告提供了一位 22 岁 RES 患者认知和情感表现的全面、纵向概述。该患者自幼儿期起就表现出情绪反应和失调、冲动以及执行功能障碍的临床症状。这些特征符合后天性和获得性后小脑蚓部异常患者所观察到的神经精神症状组合。因此，RES 患者可能表现出情感和认知困难，这增加了他们对心理压力的脆弱性和出现心理健康问题的风险。
