目的:我们描述了患有17q21.31微重复的成年患者的脑结构损伤和认知特征演变,一种与精神运动延迟有关的罕见疾病,行为障碍和不良的社交互动。
方法:A.B.,57岁,男性,表现出强迫和重复的行为,烦躁,疾病发作时缺乏卫生和记忆丧失。他对成人发作的行为改变(他的父亲和姐姐)和神经精神疾病(他的儿子)非常熟悉。血液和脑脊液(CSF)样本显示17q21.31微重复,他的儿子和妹妹也分享了,提高CSFtau,分别。他在发病1年后住院,并接受了MRI扫描和神经心理学评估,后者在7个月后重复。为了定量调查患者的灰质(GM)体积,选择16个年龄和教育程度匹配的男性对照,并进行基于体素的形态计量学分析。
结果:住院期间,他的行为特征是失认症,冲动,冷漠和侵略性。认知测试揭示了主要的注意力执行障碍和理解非文字语言的困难。与对照组相比,A.B.主要在右半球有更大的GM萎缩,涉及杏仁核,海马体,下/上颞回和颞极。他被诊断为早发性痴呆。7个月后,他失去了同理心,坚持不懈的行为,饮食习惯的改变和执行注意能力的恶化。
结论:在A.B.中,17q21.31微重复导致神经退行性疾病与普遍的右颞叶损伤,提高脑脊液tau水平,行为障碍,记忆障碍,专注的执行和抽象的语言功能障碍和快速的疾病进展,因此反映了这种遗传底物和临床表型之间的复杂相互作用。
OBJECTIVE: We describe brain structural damage and cognitive profile evolution of an adult patient with 17q21.31 microduplication, a rare condition associated with psychomotor delay, behavioural disturbances and poor social interaction.
METHODS: A.B., 57 years old, male, displayed obsessive and repetitive behaviours, irritability, scarce hygiene and memory loss at disease onset. He had strong familiarity for adult-onset behavioural alterations (his father and sister) and neuropsychiatric conditions (his son). Blood and cerebrospinal fluid (CSF) samples revealed 17q21.31 microduplication, shared also by his son and sister, and raised CSF tau, respectively. He was hospitalized 1 year after disease onset and underwent an MRI scan and a neuropsychological assessment, the latter being repeated 7 months later. To quantitatively investigate patient\'s grey matter (GM) volume, 16 age- and education-matched male controls were selected and voxel-based morphometry analysis was performed.
RESULTS: During hospitalization, his behavioural profile was characterized by anosognosia, impulsivity, apathy and aggressiveness. Cognitive testing revealed main attentive-executive disturbances and difficulties in understanding non-literal language. Compared to controls, A.B. had greater GM atrophy mainly in the right hemisphere, involving amygdala, hippocampus, inferior/superior temporal gyri and temporal pole. He received a diagnosis of early onset dementia. After 7 months, he developed empathy loss, perseverative behaviour, changes in eating habits and worsening in executive-attentive abilities.
CONCLUSIONS: In A.B., 17q21.31 microduplication caused a neurodegenerative condition with prevalent right temporal damage, raised CSF tau level, behavioural disturbances, memory impairment, attentive-executive and abstract language dysfunctions and fast disease progression, thus reflecting the complex interaction between such genetic substrate and clinical phenotypes.