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遗传性神经代谢疾病中的类中风发作

Stroke-like Episodes in Inherited Neurometabolic Disorders.

作者信息

Będkowska Natalia, Zontek Aneta, Paprocka Justyna

机构信息

Students' Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, Poland.

Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, Poland.

出版信息

Metabolites. 2022 Sep 30;12(10):929. doi: 10.3390/metabo12100929.

Abstract

Stroke-like episodes (SLEs) are significant clinical manifestations of metabolic disorders affecting the central nervous system. Morphological equivalents presented in neuroimaging procedures are described as stroke-like lesions (SLLs). It is crucial to distinguish SLEs from cerebral infarction or intracerebral hemorrhage, mainly due to the variety in management. Another significant issue to underline is the meaning of the main pathogenetic hypotheses in the development of SLEs. The diagnostic process is based on the patient's medical history, physical and neurological examination, neuroimaging techniques and laboratory and genetic testing. Implementation of treatment is generally symptomatic and includes L-arginine supplementation and adequate antiepileptic management. The main aim of the current review was to summarize the basic and actual knowledge about the occurrence of SLEs in various inherited neurometabolic disorders, discuss the possible pathomechanism of their development, underline the role of neuroimaging in the detection of SLLs and identification of the electroencephalographic patterns as well as histological abnormalities in inherited disorders of metabolism.

摘要

类中风发作(SLEs)是影响中枢神经系统的代谢紊乱的重要临床表现。神经影像学检查中呈现的形态学对应表现被描述为类中风病灶(SLLs)。将SLEs与脑梗死或脑出血区分开来至关重要,这主要是由于治疗方法的多样性。另一个需要强调的重要问题是SLEs发生过程中主要发病机制假说的意义。诊断过程基于患者的病史、体格和神经学检查、神经影像学技术以及实验室和基因检测。治疗通常是对症治疗,包括补充L-精氨酸和适当的抗癫痫治疗。本综述的主要目的是总结关于各种遗传性神经代谢疾病中SLEs发生的基础和实际知识,讨论其发展的可能发病机制,强调神经影像学在检测SLLs以及识别脑电图模式和代谢遗传性疾病中的组织学异常方面的作用。

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