磁共振波谱分析检测到脑腱黄瘤病中的脂质峰。
MR spectroscopy detects lipid peaks in cerebrotendinous xanthomatosis.
机构信息
Department of Neurology, Clinics Hospital of the University of Sao Paulo, School of Medicine, Sao Paulo, Brazil.
出版信息
AJNR Am J Neuroradiol. 2010 Aug;31(7):1347-9. doi: 10.3174/ajnr.A1885. Epub 2010 Feb 11.
Abstract
CTX is a rare lipid-storage disease. Novel MRS findings from 3 patients, using a short TE, were the presence of lipid peaks at 0.9 and 1.3 ppm in the depth of the cerebellar hemisphere; this might represent an additional marker of disease that is CNS-specific and noninvasive. A decrease in NAA concentration was also detected and attributed to neuroaxonal damage. One patient presented an increase in mIns concentration, pointing to gliosis and astrocytic proliferation.
摘要
CTX 是一种罕见的脂质贮积病。3 例患者使用短 TE 获得的新 MRS 发现为小脑半球深部 0.9 和 1.3ppm 处存在脂质峰；这可能代表一种新的疾病标志物，具有中枢神经系统特异性和非侵入性。还检测到 NAA 浓度降低，这归因于神经轴突损伤。一位患者 mIns 浓度增加，提示胶质增生和星形胶质细胞增殖。
相似文献
1
MR spectroscopy detects lipid peaks in cerebrotendinous xanthomatosis.磁共振波谱分析检测到脑腱黄瘤病中的脂质峰。
AJNR Am J Neuroradiol. 2010 Aug;31(7):1347-9. doi: 10.3174/ajnr.A1885. Epub 2010 Feb 11.
2
Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis.脑腱性黄瘤病患者脑部的磁共振成像及波谱变化
Brain. 2001 Jan;124(Pt 1):121-31. doi: 10.1093/brain/124.1.121.
3
Visualisation of treatment response in a case of cerebrotendinous xanthomatosis.脑腱性黄瘤病一例治疗反应的可视化
J Neurol Neurosurg Psychiatry. 2011 Jun;82(6):703-4. doi: 10.1136/jnnp.2009.196444. Epub 2010 Jul 26.
4
Differentiation between high-grade glioma and metastatic brain tumor using single-voxel proton MR spectroscopy.使用单体素质子磁共振波谱鉴别高级别胶质瘤与脑转移瘤。
Eur Radiol. 2001;11(9):1784-91. doi: 10.1007/s003300000814.
5
Central nervous system lymphoma characterization by diffusion-weighted imaging and MR spectroscopy.通过扩散加权成像和磁共振波谱对中枢神经系统淋巴瘤进行特征描述。
J Neuroimaging. 2008 Oct;18(4):411-7. doi: 10.1111/j.1552-6569.2007.00231.x. Epub 2008 May 19.
6
Combined Cerebellar Proton MR Spectroscopy and DWI Study of Patients with Friedreich's Ataxia.弗里德赖希共济失调患者的小脑质子磁共振波谱与弥散加权成像联合研究
Cerebellum. 2017 Feb;16(1):82-88. doi: 10.1007/s12311-016-0767-z.
7
Differentiation of SCA2 from MSA-C using proton magnetic resonance spectroscopic imaging.利用质子磁共振波谱成像鉴别脊髓小脑共济失调2型与多系统萎缩-小脑型。
J Magn Reson Imaging. 2007 Mar;25(3):564-9. doi: 10.1002/jmri.20846.
8
MR spectroscopy of cervical spinal cord in patients with multiple sclerosis.多发性硬化症患者颈脊髓的磁共振波谱分析。
Neuroradiology. 2004 Sep;46(9):764-9. doi: 10.1007/s00234-004-1231-1.
9
Proton MR spectroscopy of the cerebellum and pons in patients with degenerative ataxia.退行性共济失调患者小脑和脑桥的质子磁共振波谱分析
Radiology. 2002 May;223(2):371-8. doi: 10.1148/radiol.2232010722.
10
[Brain metabolic disorders after chemotherapy in the study by magnetic resonance spectroscopy].[化疗后脑部代谢紊乱的磁共振波谱研究]
Neurol Neurochir Pol. 2003;37(4):783-98.
引用本文的文献
1
Cerebrotendinous Xanthomatosis: Molecular Pathogenesis, Clinical Spectrum, Diagnosis, and Disease-Modifying Treatments.脑腱性黄瘤病：分子发病机制、临床谱、诊断和疾病修饰治疗。
J Atheroscler Thromb. 2021 Sep 1;28(9):905-925. doi: 10.5551/jat.RV17055. Epub 2021 May 8.
2
Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).脑腱性黄瘤病（CTX）的流行病学、诊断和治疗。
J Inherit Metab Dis. 2017 Nov;40(6):771-781. doi: 10.1007/s10545-017-0093-8. Epub 2017 Oct 4.
3
Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS.磁共振波谱检测到的肉碱棕榈酰转移酶2缺乏症患儿脑脂质蓄积：病例报告及磁共振波谱脂质峰遗传病因文献综述
JIMD Rep. 2016;28:69-74. doi: 10.1007/8904_2015_506. Epub 2015 Nov 5.
4
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.脑腱黄瘤病：发病机制、临床表现、诊断及治疗的全面综述
Orphanet J Rare Dis. 2014 Nov 26;9:179. doi: 10.1186/s13023-014-0179-4.
5
Magnetic resonance imaging biomarkers in patients with progressive ataxia: current status and future direction.磁共振成像生物标志物在进行性共济失调患者中的应用：现状与未来方向。
Cerebellum. 2013 Apr;12(2):245-66. doi: 10.1007/s12311-012-0405-3.
6
A case of Sjögren-Larsson syndrome with minimal MR imaging findings facilitated by proton spectroscopy.Sjögren-Larsson 综合征 1 例：质子波谱磁共振成像表现轻微。
Pediatr Radiol. 2012 Mar;42(3):380-2. doi: 10.1007/s00247-011-2156-6. Epub 2011 Jun 29.
本文引用的文献
1
Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat.慢性腹泻与青少年白内障：考虑脑腱性黄瘤病并进行治疗。
Pediatrics. 2009 Jan;123(1):143-7. doi: 10.1542/peds.2008-0192.
2
Cerebrotendinous xanthomatosis: neuropathological findings.脑腱黄瘤病：神经病理学发现
J Neurol. 2008 Jun;255(6):839-42. doi: 10.1007/s00415-008-0729-6. Epub 2008 May 6.
3
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.脑腱黄瘤病的临床与分子诊断及CYP27A1基因突变综述
Neurol Sci. 2006 Jun;27(2):143-9. doi: 10.1007/s10072-006-0618-7.
4
Diagnosing inborn errors of lipid metabolism with proton nuclear magnetic resonance spectroscopy.利用质子核磁共振波谱诊断脂质代谢先天性缺陷。
Clin Chem. 2006 Jul;52(7):1395-405. doi: 10.1373/clinchem.2006.069112. Epub 2006 May 18.
5
MR imaging and proton MR spectroscopic studies in Sjögren-Larsson syndrome: characterization of the leukoencephalopathy.干燥综合征-拉松综合征的磁共振成像和质子磁共振波谱研究：脑白质病变的特征
AJNR Am J Neuroradiol. 2004 Apr;25(4):649-57.
6
Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis, and therapy.脑腱黄瘤病：临床表现、诊断标准、发病机制及治疗
J Child Neurol. 2003 Sep;18(9):633-8. doi: 10.1177/08830738030180091001.
7
Proton MR spectroscopy of the brain.脑质子磁共振波谱分析
Semin Ultrasound CT MR. 2000 Dec;21(6):434-51. doi: 10.1016/s0887-2171(00)90036-2.
8
Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis.脑腱性黄瘤病患者脑部的磁共振成像及波谱变化
Brain. 2001 Jan;124(Pt 1):121-31. doi: 10.1093/brain/124.1.121.
9
Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings.脑腱性黄瘤病：影像学表现谱及其与神经病理学表现的相关性
Radiology. 2000 Dec;217(3):869-76. doi: 10.1148/radiology.217.3.r00dc03869.
10
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.脑腱黄瘤病患者的临床和分子遗传学特征
Brain. 2000 May;123 ( Pt 5):908-19. doi: 10.1093/brain/123.5.908.
Zotero 插件