典型苍白球黑质红核色素变性1例报道及文献复习

Typical Hallervorden-Spatz Disease: A Report of 1 Case and Review of the Literature

目的探讨苍白球黑质红核色素变性的特异临床表现、发病机制和诊治方法等,提高临床医生对该病诊疗能力。方法分析1例临床确诊为典型苍白球黑质红核色素变性患者的临床资料,检索国内外相关文献并进行复习。结果患者急性起病,跑步时易摔倒,突发不自主运动7天,查体发现言语欠清、四肢扭转痉挛、共济失调,头颅MR可见典型"虎眼征",基因检测发现PANK2基因有错义突变,临床诊断为苍白球黑质红核色素变性,使用激素、丙种球蛋白等治疗后患者症状未见明显缓解。结论目前对于苍白球黑质红核色素变性的治疗暂无特效药,该病的诊断可依靠头颅MR和基因检测等,对本病的治疗和预防暂未达成广泛共识。

Objective To investigate the clinical manifestation,pathogenesis,diagnosis and treatment of pigmentary degeneration of Hallervorden-Spatz disease,so as to improve the clinician's ability to diagnose and treat.Methods The clinical data of 1 patient who was diagnosed as typical Hallervorden-Spatz disease,was analyzed.The related literatures at home and abroad were reviewed.Results The patients with acute onset,easy to fall when running,7 days of sudden involuntary movement,found words and unclear limbs torsion spasm,ataxia,cranial MR showed typical"eye of tiger"sign,detection of gene PANK2 gene missense mutation,clinical diagnosis of Hallervorden-Spatz disease,the use of hormone after treatment,gamma globulin and other symptoms in patients with no significant relief.Conclusion There is no specific drug for the treatment and the diagnosis of this disease depends on magnetic imaging reasonce and gene testing.However,there is no consensus on the treatment and prevention of this disease.