Head and Neck Imaging
Typical Hallervorden-Spatz Disease: A Report of 1 Case and Review of the Literature
Author：ZHANG Wen-sheng, ZHANG Dong-liang, SONG Xing-wang,et al.
affiliation：Department of Neurology, the Second Affiliated Hospital of Guangzhou Medical University, Guangzhou 510260, Guangdong Province, China
PDFAbstract
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.
【Keyword】Pigmentary Degeneration of Globus Pallidus and Substantia Nigra; Clinical Manifestation; "Eye of Tiger" Sign; Gene Detection
【Chart number】R651.1
【Document Identification Number】A
【DOI】10.3969/j.issn.1009-3257.2019.02.007
Journal of Rare Diseases
th26Volume， th 2 Issue
2019Year03Month
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