白质营养不良症的主要类型。讲座和临床病例

A. A. Ershova, A. S. Kotov
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引用次数: 0

摘要

白质营养不良是一种由遗传决定的疾病,其特征是中枢神经系统白质的原发性损伤,与遗传缺陷和结构成分无关。本文的分类是基于对某些形式的脑白质营养不良的典型特征的识别。为每一种确定的模式给出了临床实例。在一个9岁男孩x连锁肾上腺脑白质营养不良症的临床病例中,考虑到顶枕模式。额叶模式有一个例子,在一个16岁的女性患者的遗传验证的少年形式的亚历山大病。在一个9岁的女性患者中,脑室周围模式反映了白质脑病伴脑干和脊髓受累和乳酸升高。一名29岁患者的l -2-羟基戊二酸尿被认为是皮质下模式。作为脑干和小脑受累模式的例子,常染色体显性白质营养不良与成人发病,由于串联重复的纤层蛋白B基因,发现在一个40岁的病人,被认为。总之,我们提出了鉴别诊断脑白质疾病的其他诊断方法,并简要概述了治疗方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The main forms of leukodystrophies. Lecture and clinical cases
Leukodystrophies are genetically determined diseases characterised by primary damage to the white matter of the central nervous system, irrespective of the genetic defect and structural component involved. This paper classification is presented based on the identification of typical patterns characteristic of certain forms of leukodystrophy. Clinical examples are given for each of the identified patterns. The parieto-occipital pattern is considered in a clinical case of a 9-year-old boy with X-linked adrenoleukodystrophy. Frontal pattern there is an example of a genetically verified juvenile form of Alexander’s disease in a 16-year-old female patient. The periventricular pattern reflects leukoencephalopathy with brain stem and spinal cord involvement and increased lactate in a 9-year-old female patient. A subcortical pattern is considered within L-2-hydroxyglutoric aciduria in a 29-year-old patient. As examples of brainstem and cerebellar involvement patterns, autosomal dominant leukodystrophy with adult onset due to tandem duplication of the lamin B gene, identified in a 40-year-old patient, is considered. In conclusion, we present additional diagnostic methods for the differential diagnosis of brain white matter diseases and a brief overview of treatment.
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