c.856_860delCTCTA突变McLeod综合征的脑F-18FDG和F-18FP-CIT PET/CT表现。

IF 1.3 4区 医学 Q4 BEHAVIORAL SCIENCES
Ho-Sung Ryu, Chae Moon Hong
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引用次数: 1

摘要

McLeod综合征是一种罕见的X连锁隐性遗传病,由XK基因突变引起。它是核心的神经棘细胞增多综合征之一。我们报告了一例67岁的男性患者,他在大韩民国庆浦国立大学医院就诊,全身性舞蹈病和肌张力障碍逐渐恶化。他没有公认的神经系统疾病家族史。外周血涂片显示棘细胞增多。他的血清肌酸激酶水平为894U/L。脑部核磁共振显示双侧纹状体核萎缩。F-18F-N-(3-氟丙基)-2β-羧基甲氧基-3β-(4-碘苯基)去甲托烷PET/CT显示壳核中多巴胺转运蛋白摄取适度降低,尾状核中多巴胺转运体摄取严重降低。F-18氟脱氧葡萄糖PET/CT显示尾状核和壳核的代谢显著降低。全外显子组测序揭示了XK基因的半合子致病性突变(c.856_860delCTCTA;p.Leu286TyrfsTer16)。我们相信这些发现为McLeod综合征患者的临床特征提供了有用的信息。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Brain F-18 FDG and F-18 FP-CIT PET/CT Findings of c.856_860delCTCTA Mutation McLeod Syndrome.

McLeod syndrome is a rare X-linked recessive genetic disorder that is caused by mutations of the XK gene. It is one of the core neuroacanthocytosis syndromes. We report the case of a 67-year-old man who presented to Kyungpook National University Hospital in the Republic of Korea with progressive worsening of generalized chorea and dystonia. He had no recognized family history of neurologic illness. A peripheral blood smear showed increased acanthocytes. His serum creatine kinase levels were 894 U/L. A brain MRI showed atrophy of the bilateral striatal nuclei. An F-18 F-N-(3-fluoropropyl)-2β-carboxymethoxy-3β-(4-iodophenyl) nortropane PET/CT showed moderately decreased dopamine transporter uptake in the putamen and severely decreased uptake in the caudate nucleus. An F-18 fludeoxyglucose PET/CT demonstrated markedly decreased metabolism at the caudate nucleus and the putamen. Whole exome sequencing revealed hemizygous pathogenic mutations of the XK gene (c.856_860delCTCTA;p.Leu286TyrfsTer16). We believe that these findings provide useful information regarding the clinical features of individuals with McLeod syndrome.

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来源期刊
CiteScore
2.40
自引率
7.10%
发文量
68
审稿时长
>12 weeks
期刊介绍: Cognitive and Behavioral Neurology (CBN) is a forum for advances in the neurologic understanding and possible treatment of human disorders that affect thinking, learning, memory, communication, and behavior. As an incubator for innovations in these fields, CBN helps transform theory into practice. The journal serves clinical research, patient care, education, and professional advancement. The journal welcomes contributions from neurology, cognitive neuroscience, neuropsychology, neuropsychiatry, and other relevant fields. The editors particularly encourage review articles (including reviews of clinical practice), experimental and observational case reports, instructional articles for interested students and professionals in other fields, and innovative articles that do not fit neatly into any category. Also welcome are therapeutic trials and other experimental and observational studies, brief reports, first-person accounts of neurologic experiences, position papers, hypotheses, opinion papers, commentaries, historical perspectives, and book reviews.
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