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脱髓鞘性脑白质营养不良症:“缺乏正常髓鞘” 。

Dysmyelinating leukodystrophies: "LACK Proper Myelin".

作者信息

Hatten H P

机构信息

Radiology Associates of Birmingham, Alabama.

出版信息

Pediatr Radiol. 1991;21(7):477-82. doi: 10.1007/BF02011716.

Abstract

A mnemonic has been developed, "LACK Proper Myelin", which can serve as a spring board in developing a differential diagnosis in a child with a dysmyelinating leukodystrophy. Certain distinguishing features of the diseases can be used including laboratory evaluation, head size and sex of the child. The important common ground that all the dysmyelinating leukodystrophies share, they all are inherited disorders that have a enzymatic or biochemical abnormality resulting in the development of abnormal myelin.

摘要

已经开发出一种记忆方法“LACK Proper Myelin”,它可以作为对患有脱髓鞘性脑白质营养不良的儿童进行鉴别诊断的起点。可以利用这些疾病的某些显著特征,包括实验室评估、头围大小和儿童性别。所有脱髓鞘性脑白质营养不良症的重要共同点是,它们都是遗传性疾病,存在酶或生化异常,导致异常髓鞘的形成。

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