PDF(Pubmed)
Abstract：
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare and complex neurodegenerative disorder. It occurs due to mutations in the sequencing of the PANK2 gene. Here, we describe the case of a 22-year-old male patient who presented with severe blepharospasm; he had abnormal facial distortions, shaky limbs, rigid muscles, and a slow pace of movement, making a diagnosis tricky. Accumulation of iron in excessive amounts in the basal ganglia, a part of the brain that governs movement, is linked to PKAN. In this case, the \"eye of the tiger\" indication, a distinctive pattern only seen by MRI, supported PKAN. The anticholinergic medications helped him alleviate his symptoms to some extent, but he still had some degree of impairment. This instance emphasizes the mysterious character of PKAN and the significance of keeping an eye out for unusual symptoms in neurodegenerative conditions. This case report emphasizes the significance of recognizing unexpected effects that brain disorders can have on people\'s lives and calls for increased clinician awareness and understanding.
摘要：
泛酸激酶相关的神经变性（PKAN）是一种罕见且复杂的神经退行性疾病。它是由于PANK2基因测序中的突变而发生的。这里,我们描述了一个22岁的男性患者，他表现出严重的眼睑痉挛；他有异常的面部扭曲，颤抖的四肢,僵硬的肌肉，和缓慢的运动速度，做出棘手的诊断.铁在基底神经节中的过量积累，大脑中控制运动的一部分，链接到PKAN。在这种情况下,“老虎之眼”的指示，一种只有核磁共振成像才能看到的独特模式，支持PKAN。抗胆碱能药物在一定程度上帮助他缓解了症状，但他还是有一定程度的损伤.这个例子强调了PKAN的神秘特征以及在神经退行性疾病中注意异常症状的重要性。本病例报告强调了认识到脑部疾病可能对人们生活产生的意外影响的重要性，并呼吁提高临床医生的认识和理解。
