Hosseinialhashemi Milad, Daneshfard Babak, Hashemi Atefe
Student's Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.
Research Center for Traditional Medicine and History of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran. AND Essence of Parsiyan Wisdom Institute, Phytopharmaceutical Technology and Traditional Medicine Incubator, Shiraz University of Medical Sciences, Shiraz, Iran. AND Department of Persian Medicine, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
Acta Med Iran. 2018 Jan;56(1):71-73.
Hallervorden-Spatz syndrome is a rare neurodegenerative disorder with hereditary properties. It usually occurs in young adolescents with extrapyramidal symptoms besides disturbed mental function. In this study, we present a 23-year-old neuropsychiatric patient who primarily misdiagnosed to have conversion disorder. She had 5-year history of progressive dysarthria and generalized abnormal movements. After detecting the pathognomonic sign of "eye of the tiger" diagnosis was confirmed. The patient was discharged. She had satisfactory condition in her follow-up. Such a rare syndrome should be considered in patients with similar presentation, and upon the diagnosis, PKAN2 gene study should be done to detect possible new mutations.
哈勒沃登-施帕茨综合征是一种具有遗传特性的罕见神经退行性疾病。它通常发生在青少年身上,除了精神功能紊乱外还伴有锥体外系症状。在本研究中,我们报告了一名23岁的神经精神科患者,最初被误诊为转换障碍。她有5年进行性构音障碍和全身性异常运动的病史。在检测到“虎眼征”这一特征性体征后,确诊得以确认。患者出院。随访时她的状况良好。对于有类似表现的患者应考虑这种罕见综合征,确诊后应进行PKAN2基因研究以检测可能的新突变。