[Recurrent depressive disorder associated with an atypical CADASIL syndrome].

Q4 Medicine Tijdschrift voor psychiatrie Pub Date : 2024-01-01
K Ernes, S Huysmans, A Govaerts, F-L De Winter
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引用次数: 0

Abstract

A 55-year-old man with recurrent depressive episodes, with onset at age 45, was admitted to hospital after a suicide attempt. Due to a recent stroke as well as a family history of stroke and depression, CADASIL (prevalence of 2-5 per 100.000) was considered as a possible diagnosis. Although depression is common in CADASIL, the initial presentation is not typically comprised of recurrent depressions. Brain MRI, however, did not show the characteristic white matter lesions in the anterior temporal lobe. Genetic analysis revealed a cysteine-sparing mutation (Arg61Trp) in the NOTCH3 gene. Recently, several such mutations have been associated with CADASIL presenting with an atypical phenotype including a lower prevalence of recurrent stroke. This suggests that the prevalence of CADASIL may be higher than estimated in depressed patients. This case demonstrates the importance of considering CADASIL as a possible etiology of depression as this has consequences for prognosis, treatment and genetic counseling.

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[与非典型 CADASIL 综合征相关的复发性抑郁障碍]。
一名 55 岁的男子反复抑郁发作,45 岁时发病,自杀未遂后入院。由于最近发生过中风,而且有中风和抑郁症家族史,因此考虑将 CADASIL(发病率为 2-5/10 万)作为可能的诊断依据。虽然抑郁症在 CADASIL 中很常见,但最初的表现通常不是反复抑郁。然而,脑部核磁共振成像并未在颞叶前部显示出特征性的白质病变。基因分析显示,NOTCH3 基因中存在一个半胱氨酸保留突变(Arg61Trp)。最近,有几例此类突变与 CADASIL 相关,表现为非典型表型,包括较低的复发性中风发病率。这表明,在抑郁症患者中,CADASIL 的发病率可能比估计的要高。本病例表明,将 CADASIL 视为抑郁症的可能病因非常重要,因为这会对预后、治疗和遗传咨询产生影响。
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来源期刊
Tijdschrift voor psychiatrie
Tijdschrift voor psychiatrie Medicine-Medicine (all)
CiteScore
0.60
自引率
0.00%
发文量
118
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