以精神行为症状为主要临床相的神经性棘红细胞增多症1例
A case of chorea-acanthocytosis with psychiatric and behavioral symptoms as the primary clinical manifestation
摘要神经性棘红细胞增多症是一种罕见、严重、预后不良的遗传性神经退行性疾病。本例患者29岁,女性,以逐渐加重的行为异常伴口齿不清作为主要症状就诊,基因测序提示VPS13A基因突变,诊断为神经性棘红细胞增多症。本文通过报道此例患者,希望提高精神科医生对于运动障碍和行为障碍的鉴别意识,并结合文献回顾神经性棘红细胞增多症的临床表现、鉴别诊断和基因检测手段,帮助精神科医生对神经性棘红细胞增多症进行早期识别和准确诊断。
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abstractsChorea-acanthocytosis (ChAc) is a rare, severe, and progressive hereditary neurodegenerative disease with a poor prognosis. The patient in this case was a 29-year-old female who presented with gradually worsening behavioral abnormalities and slurred speech as the main symptoms. Gene sequencing revealed a mutation in the VPS13A gene, leading to a diagnosis of"Chorea-acanthocytosis". This case report aims to improve the awareness among psychiatrists in distinguishing movement disorders and behavioral disorders. Combined with a literature review on the clinical manifestations, differential diagnosis, and genetic testing, this paper may help psychiatrists in early identification and accurate diagnosis of ChAc.
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