Case report: Asymmetric bilateral deep brain stimulation for the treatment of pantothenate kinase-associated neurodegeneration in a patient: a unique case of atypical PKAN with a novel heterozygous PANK2 mutation.

IF 2.4 3区 医学 Q3 NEUROSCIENCES Frontiers in Human Neuroscience Pub Date : 2024-10-16 eCollection Date: 2024-01-01 DOI:10.3389/fnhum.2024.1448606
Guo Hong, Zhongwen Zhang, Peiyi Wang, Guoyang Li, Wenli Zhang, Huahui Zou, Xiaoguang Luo
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Abstract

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive hereditary neurodegenerative disorder, usually caused by mutations in the pantothenate kinase 2 (PANK2) gene. We report a young female patient with atypical PKAN, harboring a novel heterozygous PANK2 mutation, diagnosed through clinical imaging and genetic analysis. The patient presented with dystonia and motor dysfunction after onset, but early brain MRI showed normal findings. Due to progressive symptom deterioration, her MRI was reevaluated and the characteristic "eye of the tiger" sign was identified. Further genetic testing revealed that she was a carrier of two heterozygous PANK2 mutations, one being a known pathogenic variant and the other unknown. Given the patient's clinical presentation, progressive symptoms, and poor response to medication, we boldly attempted asymmetric bilateral deep brain stimulation (abDBS). Postoperative outcomes showed significant symptom improvement. This study suggests that early brain MRI in PKAN patients may not exhibit typical radiological features, leading to potential diagnostic omissions. Furthermore, it highlights the potential therapeutic effect of abDBS in atypical PKAN, particularly in patients with novel heterozygous PANK2 mutations. Asymmetric bilateral deep brain stimulation may represent a promising treatment approach.

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病例报告:非对称双侧脑深部刺激治疗泛酸激酶相关神经退行性病变:一例伴有新型杂合子 PANK2 突变的非典型 PKAN。
泛酸激酶相关神经变性(PKAN)是一种罕见的常染色体隐性遗传性神经变性疾病,通常由泛酸激酶 2(PANK2)基因突变引起。我们报告了一名患有非典型 PKAN 的年轻女性患者,她携带一种新型杂合子 PANK2 基因突变,通过临床影像学和基因分析确诊。患者发病后出现肌张力障碍和运动功能障碍,但早期脑磁共振成像显示正常。由于症状逐渐恶化,对她的核磁共振成像进行了重新评估,发现了特征性的 "虎视眈眈 "征象。进一步的基因检测显示,她是两个杂合 PANK2 突变的携带者,其中一个是已知的致病变异,另一个则未知。鉴于患者的临床表现、进行性症状和对药物的不良反应,我们大胆尝试了非对称双侧脑深部刺激(abDBS)。术后结果显示症状得到了明显改善。这项研究表明,PKAN 患者的早期脑磁共振成像可能并不表现出典型的放射学特征,从而导致潜在的诊断遗漏。此外,该研究还强调了非典型PKAN患者,尤其是PANK2新型杂合子突变患者接受非对称双侧脑深部刺激的潜在治疗效果。非对称双侧脑深部刺激可能是一种很有前景的治疗方法。
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来源期刊
Frontiers in Human Neuroscience
Frontiers in Human Neuroscience 医学-神经科学
CiteScore
4.70
自引率
6.90%
发文量
830
审稿时长
2-4 weeks
期刊介绍: Frontiers in Human Neuroscience is a first-tier electronic journal devoted to understanding the brain mechanisms supporting cognitive and social behavior in humans, and how these mechanisms might be altered in disease states. The last 25 years have seen an explosive growth in both the methods and the theoretical constructs available to study the human brain. Advances in electrophysiological, neuroimaging, neuropsychological, psychophysical, neuropharmacological and computational approaches have provided key insights into the mechanisms of a broad range of human behaviors in both health and disease. Work in human neuroscience ranges from the cognitive domain, including areas such as memory, attention, language and perception to the social domain, with this last subject addressing topics, such as interpersonal interactions, social discourse and emotional regulation. How these processes unfold during development, mature in adulthood and often decline in aging, and how they are altered in a host of developmental, neurological and psychiatric disorders, has become increasingly amenable to human neuroscience research approaches. Work in human neuroscience has influenced many areas of inquiry ranging from social and cognitive psychology to economics, law and public policy. Accordingly, our journal will provide a forum for human research spanning all areas of human cognitive, social, developmental and translational neuroscience using any research approach.
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