"String hallucinations": a case of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) with multimodal visual and somatic disturbances.
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引用次数: 0
Abstract
Introduction: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary condition primarily caused by mutations on the NOTCH3 gene, leading to hypoperfusion and ischaemic events, with two-thirds of cases having lacunar infarcts mostly within the basal ganglia, thalamus, and brainstem. Here, we focus on an individual with CADASIL who had a thalamic stroke, which preceded symptoms of visual and somatic disturbances.
Methods: A single-case report is used to describe the visual and somatic disturbances experienced by a 52-year-old gentleman following a left-sided thalamic stroke, who is genetically heterozygous for c449A > G p.(Tyr150Cys) mutation in the NOTCH3 gene consistent with CADASIL, as well as their response to various psychotropic medications, through information gathered from the patient's clinical records.
Results: After trialling several antidepressants, and a trial of a cholinesterase inhibitor, there was no perceived benefit reported; with only lamotrigine, previously prescribed for thalamic pain, and olanzapine, providing the least amount of distress associated with their symptoms.
Conclusions: As the management of CADASIL appears to focus on symptom control, this case highlights the need for further research to elucidate the mechanisms driving such unusual perceptual disturbances to inform potential future treatments.
脑常染色体显性动脉病变伴皮层下梗死和脑白质病(CADASIL)是一种主要由NOTCH3基因突变引起的遗传性疾病,导致灌注不足和缺血事件,三分之二的病例发生腔隙性梗死,主要发生在基底节区、丘脑和脑干。在这里,我们关注的是一个患有CADASIL的个体,他有丘脑中风,在视觉和躯体障碍症状之前。方法:通过收集患者临床记录的信息,对一名52岁的左侧丘脑卒中患者(NOTCH3基因c449A b> G .(Tyr150Cys)突变与CADASIL一致)发生后的视觉和躯体障碍以及对各种精神药物的反应进行单例报告。结果:在试验了几种抗抑郁药和一种胆碱酯酶抑制剂后,没有发现明显的益处;仅使用拉莫三嗪(以前用于治疗丘脑疼痛)和奥氮平(与症状相关的痛苦最少)。结论:由于CADASIL的治疗似乎侧重于症状控制,本病例强调需要进一步研究阐明驱动这种不寻常的感知障碍的机制,以便为潜在的未来治疗提供信息。
期刊介绍:
Cognitive Neuropsychiatry (CNP) publishes high quality empirical and theoretical papers in the multi-disciplinary field of cognitive neuropsychiatry. Specifically the journal promotes the study of cognitive processes underlying psychological and behavioural abnormalities, including psychotic symptoms, with and without organic brain disease. Since 1996, CNP has published original papers, short reports, case studies and theoretical and empirical reviews in fields of clinical and cognitive neuropsychiatry, which have a bearing on the understanding of normal cognitive processes. Relevant research from cognitive neuroscience, cognitive neuropsychology and clinical populations will also be considered.
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