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过氧化物酶体病的临床诊断、生化检查结果及磁共振成像特征

Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders.

作者信息

Poll-The Bwee Tien, Gärtner Jutta

机构信息

Department of Pediatric Neurology and Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.

出版信息

Biochim Biophys Acta. 2012 Sep;1822(9):1421-9. doi: 10.1016/j.bbadis.2012.03.011. Epub 2012 Mar 28.

Abstract

Peroxisomal disorders are an important group of neurometabolic diseases. The clinical presentation is varied in terms of age of onset, severity, and different neurological symptoms. The clinical course spans from death in infancy, rapid functional decline, slow decline on long-term followup, to apparent stable course. Leukoencephalopathy and developmental anomalies are characteristic findings on cerebral MR imaging. From a diagnostic point of view the disorders can be clinically subdivided into four broad categories: (1) the Zellweger spectrum disorders and the peroxisomal ß-oxidation disorders, (2) the rhizomelic chondrodysplasia punctata spectrum disorders, (3) the X-linked adrenoleukodystrophy/adrenomyeloneuropathy complex and (4) the remaining disorders. This article discusses the role of MRI findings in the clinical approach of peroxisomal disorders with neurological disease.

摘要

过氧化物酶体病是一组重要的神经代谢疾病。其临床表现因发病年龄、严重程度和不同的神经症状而异。临床病程从婴儿期死亡、功能快速衰退、长期随访中缓慢衰退到明显稳定的病程。脑白质病和发育异常是脑部磁共振成像的特征性表现。从诊断角度来看,这些疾病在临床上可大致分为四大类:(1)泽尔韦格谱系障碍和过氧化物酶体β-氧化障碍,(2)肢根型点状软骨发育不良谱系障碍,(3)X连锁肾上腺脑白质营养不良/肾上腺脊髓神经病复合体,以及(4)其余疾病。本文讨论了磁共振成像结果在伴有神经系统疾病的过氧化物酶体病临床诊治中的作用。

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