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叶酸缺乏作为一名青春期女孩非创伤性脊髓前动脉综合征潜在危险因素的作用。

The Role of Folate Deficiency as a Potential Risk Factor for Nontraumatic Anterior Spinal Artery Syndrome in an Adolescent Girl.

作者信息

Hu Chun-Chieh, Yang Yung-Yu, Luxton G W Gant, Lin Yu-Pang, Hung Kuo-Sheng, Hu Chih-Fen

机构信息

Department of Pediatrics, Tri-Service General Hospital, National Defense Medical Center, Taipei 11490, Taiwan.

Department of General Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei 11490, Taiwan.

出版信息

Brain Sci. 2022 Oct 29;12(11):1470. doi: 10.3390/brainsci12111470.

Abstract

Nontraumatic anterior spinal artery syndrome (ASAS) is an extremely rare clinical condition in pediatric populations with a mostly unknown underlying etiology. Here we discuss the case of a previously healthy 14-year-old girl presenting with sudden onset acute flaccid paralysis to the emergency department. A spinal STIR/DWI MRI revealed hyperintensities extending from cervical vertebrae C3-6, consistent with the diagnosis of ASAS. In order to determine any precipitating causes of ASAS, we also extensively investigated established potential risk factors for ASAS in our patient and noticed that she had a marked folate deficiency requiring folic acid supplementation to prevent future episodes of ASAS as well as to repair the patient's injured spinal cord. Interestingly, the patient did not display elevated levels of homocysteine nor did she possess the three pathogenic mutations characteristic of ASAS. Although her folate deficiency did not cause responsive hyperhomocysteinemia, and she did not have pathogenic mutations that impair the function of methylenetetrahydrofolate reductase in folate cycle, we suggest that isolated folate deficiency may play a role in adolescent cases of ASAS that, once identified, would require prompt identification and early intervention to improve the prognosis of these patients.

摘要

非创伤性脊髓前动脉综合征(ASAS)在儿科人群中是一种极其罕见的临床病症,其潜在病因大多不明。在此,我们讨论一例病例,一名既往健康的14岁女孩因突发急性弛缓性麻痹被送往急诊科。脊柱STIR/DWI MRI显示高信号从颈椎C3 - 6延伸,符合ASAS的诊断。为了确定ASAS的任何诱发原因,我们还对该患者已确定的ASAS潜在危险因素进行了广泛调查,发现她存在明显的叶酸缺乏,需要补充叶酸以预防ASAS的未来发作,并修复患者受损的脊髓。有趣的是,该患者同型半胱氨酸水平未升高,也不具有ASAS特有的三种致病突变。尽管她的叶酸缺乏并未导致反应性高同型半胱氨酸血症,且她没有损害叶酸循环中甲基四氢叶酸还原酶功能的致病突变,但我们认为单纯叶酸缺乏可能在青少年ASAS病例中起作用,一旦确诊,需要及时识别并早期干预以改善这些患者的预后。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc4b/9688490/98b480a63743/brainsci-12-01470-g001.jpg

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