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一例成年起病、未确诊的伴有脑铁沉积及精神病性症状的神经退行性疾病。

Adult-onset case of undiagnosed neurodegeneration with brain iron accumulation with psychotic symptoms.

作者信息

Attademo Luigi, Paolini Enrico, Bernardini Francesco, Quartesan Roberto, Moretti Patrizia

机构信息

School of Psychiatry, University of Perugia, 06156 Perugia, Italy.

School of Psychiatry, University of Perugia, 06156 Perugia, Italy ; Division of Psychiatry, Clinical Psychology and Psychiatric Rehabilitation, Department of Clinical and Experimental Medicine, Santa Maria della Misericordia Hospital, University of Perugia, 06156 Perugia, Italy.

出版信息

Case Rep Psychiatry. 2014;2014:742042. doi: 10.1155/2014/742042. Epub 2014 May 20.

Abstract

Neurodegeneration with brain iron accumulation (NBIA) is a collective term to indicate a group of neurodegenerative diseases presenting accumulation of iron in the basal ganglia. These disorders can result in progressive dystonia, spasticity, parkinsonism, neuropsychiatric abnormalities, and optic atrophy or retinal degeneration. Onset age ranges from infancy to late adulthood and the rate of progression is very variable. So far, the genetic bases of nine types of NBIA have been identified, pantothenate-kinase-associated neurodegeneration (PKAN) being the most frequent type. The brain MRI "eye-of-the-tiger" sign, T2-weighted hypointense signal in the globus pallidus with a central region of hyperintensity, has been considered virtually pathognomonic for PKAN but recently several reports have denied this. A significant percentage of individuals with clinical and radiographic evidence of NBIA do not have an alternate diagnosis or mutation of one of the nine known NBIA-associated genes (idiopathic NBIA). Here we present an adult-onset case of "undiagnosed" NBIA with the brain MRI "eye-of-the-tiger" sign, and with psychotic symptoms which were successfully treated with antipsychotic and mood stabilizer medications. Here, the term "undiagnosed" is used because the patient has not been screened for all known NBIA genes, but only for two of them.

摘要

脑铁沉积神经变性病(NBIA)是一个统称,用于表示一组基底神经节中铁蓄积的神经退行性疾病。这些疾病可导致进行性肌张力障碍、痉挛、帕金森综合征、神经精神异常以及视神经萎缩或视网膜变性。发病年龄从婴儿期到成年晚期不等,进展速度差异很大。到目前为止,已确定了9种类型NBIA的遗传基础,泛酸激酶相关神经变性病(PKAN)是最常见的类型。脑MRI的“虎眼征”,即苍白球T2加权低信号伴中央高信号区,实际上一直被认为是PKAN的特征性表现,但最近有几份报告对此予以否认。很大一部分有NBIA临床和影像学证据的个体没有其他诊断,也没有9种已知的NBIA相关基因之一的突变(特发性NBIA)。在此,我们报告一例成年起病的“未确诊”NBIA病例,其脑MRI有“虎眼征”,并有精神病性症状,使用抗精神病药物和心境稳定剂治疗成功。此处使用“未确诊”一词是因为该患者仅针对其中两种已知NBIA基因进行了筛查,而非对所有基因进行了筛查。

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