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病例报告：泛酸激酶2相关神经变性中的磁共振波谱分析

Case report: MR spectroscopy in pantothenate kinase-2 associated neurodegeneration.

作者信息

Parashari Umesh C, Aga Pallavi, Parihar Anit, Singh Ragini, Joshi Vindhya

机构信息

Department of Radio Diagnosis, C.S.M. Medical University, (Upgraded K.G. Medical University) Lucknow, UP, India.

出版信息

Indian J Radiol Imaging. 2010 Aug;20(3):188-91. doi: 10.4103/0971-3026.69353.

DOI:10.4103/0971-3026.69353
PMID:21042441
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2963751/
Abstract

We report a case of a 13-year-old girl with Hallervorden-Spatz disease (HSD) or pantothenate kinase-2 associated neurodegeneration (PKAN). HSD is a rare neurodegenerative disorder, which is characterized by a rapidly progressive extrapyramidal syndrome, dementia with optic atrophy, and retinal degeneration. It is associated with accumulation of cysteine-iron complex in the globus pallidi and substantia nigra. The MRI "eye of the tiger" sign is the characteristic. MRI spectroscopy is also characteristic. It shows markedly decreased NAA/Cr values in the globus pallidi and substantia nigra with increased mI/Cr values that suggest of gliosis.

摘要

我们报告一例13岁患有哈勒沃登-施帕茨病（HSD）或泛酸激酶2相关神经变性（PKAN）的女孩。HSD是一种罕见的神经退行性疾病，其特征为快速进展的锥体外系综合征、伴有视神经萎缩的痴呆以及视网膜变性。它与苍白球和黑质中半胱氨酸-铁复合物的蓄积有关。MRI的“虎眼征”是其特征表现。磁共振波谱也具有特征性。它显示苍白球和黑质中NAA/Cr值明显降低，同时mI/Cr值升高，提示胶质增生。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89a5/2963751/23dadef78bf0/IJRI-20-188-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89a5/2963751/f43013389854/IJRI-20-188-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89a5/2963751/f01b7a8e4e85/IJRI-20-188-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89a5/2963751/1002c39066ee/IJRI-20-188-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89a5/2963751/23dadef78bf0/IJRI-20-188-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89a5/2963751/f43013389854/IJRI-20-188-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89a5/2963751/f01b7a8e4e85/IJRI-20-188-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89a5/2963751/1002c39066ee/IJRI-20-188-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89a5/2963751/23dadef78bf0/IJRI-20-188-g004.jpg

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本文引用的文献

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Identification of axonal involvement in Hallervorden-Spatz disease with magnetic resonance spectroscopy.利用磁共振波谱识别苍白球黑质变性中的轴突受累情况。
J Neuroradiol. 2006 Apr;33(2):129-32. doi: 10.1016/s0150-9861(06)77244-3.
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Hallervorden spatz disease: MR and pathological findings of a rare case.
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MR relaxometry and 1H MR spectroscopy for the determination of iron and metabolite concentrations in PKAN patients.磁共振弛豫测量法和氢质子磁共振波谱法用于测定PKAN患者体内的铁和代谢物浓度。
Eur Radiol. 2005 May;15(5):1060-8. doi: 10.1007/s00330-004-2553-4. Epub 2004 Nov 24.
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Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome).泛酸激酶相关神经变性（哈勒沃登-施帕茨综合征）
Eur J Paediatr Neurol. 2002;6(5):243-7. doi: 10.1053/ejpn.2002.0606.
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Iron in the Hallervorden-Spatz syndrome.哈勒沃登-施帕茨综合征中的铁元素。
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