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.
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引用次数: 0
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.
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.