BACKGROUND The Dandy-Walker Malformation (DWM) is a congenital birth malformation that is characterized by a triad of features: cerebellar dysgenesis, cystic dilation of the fourth ventricle, and an enlarged posterior fossa that displaces the dural sinuses and the tentorium. Despite this defining triad, clinical presentation can be highly heterogeneous in part due to severity of structural changes. To date, there been limited consideration of cognitive-behavioral symptoms of DWM in relation to nonmotor functions of the cerebellum, specifically cerebellar cognitive affective syndrome (CCAS). METHOD In this case study, we describe the neuropsychological and behavioral profile of a 48-year-old man with DWM who was seen due to concerns, expressed solely by the patient's father, about his son's atypical housing, employment and social skills. RESULTS Neuropsychological test findings revealed high average intellect on standard intellectual measures (WAIS-IV), with stronger verbal (superior) than perceptual reasoning (average) skills. Across all cognitive domains, performance was generally within expectations, although bilateral fine motor skills were impaired. In contrast, he exhibited weaknesses on nontraditional neuropsychological measures assessing orbitofrontal-limbic circuitry, including reward sensitivity decision making and indices of threat-related emotional physiology. CONCLUSIONS Through the use of traditional and nontraditional neuropsychological measures, subtle cognitive weaknesses in fronto-executive and affective regulation were illuminated and likely explain the patient's functional difficulties. Etiologically, these findings are consistent with the nonmotor functions of the cerebellum as described by CCAS.

中文翻译：

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Dandy-Walker畸形男子的神经认知特征：小脑认知情感综合症的证据。

背景技术Dandy-Walker畸形（DWM）是一种先天性畸形，其特征是三联征：小脑发育不全，第四脑室的囊状扩张以及扩大的后颅窝，可置换硬脑膜窦和the骨。尽管有这个定义性三联征，但由于结构变化的严重性，临床表现可能高度异质。迄今为止，关于小脑的非运动功能，特别是小脑认知情感综合症（CCAS）的DWM认知行为症状的考虑有限。方法在本案例研究中，我们描述了一名48岁DWM男性的神经心理和行为特征，该男性由于患者父亲仅对儿子的非典型住房，就业和社交技能的担忧而被发现。结果神经心理学测试结果显示，在标准智力测验（WAIS-IV）上的平均智力较高，其语言（上等）能力强于感知推理（平均）能力。在所有认知领域，尽管双侧精细运动技能受损，但总体表现仍在预期之内。相反，他在评估眶额-边缘回路的非传统神经心理学测量方法上表现出弱点，包括奖励敏感性决策和与威胁相关的情绪生理指标。结论通过使用传统的和非传统的神经心理学方法，可以阐明额体执行和情感调节中的细微认知缺陷，并可能解释了患者的功能障碍。从病因上讲