门克斯病：神经生理学方面

Menkes' disease: neurophysiological aspects.

作者信息

Friedman E, Harden A, Koivikko M, Pampiglione G

出版信息

J Neurol Neurosurg Psychiatry. 1978 Jun;41(6):505-10. doi: 10.1136/jnnp.41.6.505.

DOI:10.1136/jnnp.41.6.505

PMID:97372

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC493077/

Abstract

The evolution of neurophysiological features including the electroencephalogram (EEG), electroretinogram (ERG), and visual evoked potentials (VEP) is reported in eight cases of Menkes' "kinky hair" disease. All EEGs were severely abnormal, with some characteristic features seen from 3-5 months of age, after the onset of clinical symptomatology. From the age of 5 months, the EEGs resembled hypsarrhythmic patterns. The ERG was not affected in any patient, but the VEP was either of low amplitude or completely absent in all but one of the six patients tested. All eight patients received copper injections without substantial effect on either the clinical course of the disease or the EEG features.

摘要

本文报告了8例门克斯“卷发”病患者神经生理特征的演变情况，这些特征包括脑电图（EEG）、视网膜电图（ERG）和视觉诱发电位（VEP）。所有脑电图均严重异常，在临床症状出现后的3至5个月龄时可见一些特征性表现。从5个月龄起，脑电图类似于高峰失律模式。所有患者的视网膜电图均未受影响，但在接受测试的6例患者中，除1例之外，其余患者的视觉诱发电位均为低振幅或完全缺失。所有8例患者均接受了铜注射，但对疾病的临床进程或脑电图特征均无实质性影响。

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本文引用的文献

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A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration.一种伴性隐性疾病，伴有生长发育迟缓、特殊毛发以及局灶性脑和小脑变性。

Pediatrics. 1962 May;29:764-79.

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Biochemical and EEG studies in phenylketonuric children during phenylalanine tolerance testc.苯丙酮尿症患儿在苯丙氨酸耐量试验期间的生化和脑电图研究

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Brain development and the E.E.G. of normal children of various ethnical groups.不同种族正常儿童的大脑发育与脑电图

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Some E.E.G. observations in patients with Krabbe's disease.克-雅氏病患者的一些脑电图观察结果。（注：原文中Krabbe's disease表述有误，应该是Krabbe disease，即克拉伯病，一种罕见的遗传性神经退行性疾病；而这里按照你提供的文本准确翻译，但实际医学内容可能存在错误信息。）如果是想表达“库鲁病（Kuru disease）”，按照正确疾病名翻译则为：库鲁病患者的一些脑电图观察结果。如果是想表达“克雅氏病（Creutzfeldt-Jakob disease，简称CJD）”，按照正确疾病名翻译则为：克雅氏病患者的一些脑电图观察结果。

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5

The ocular pathology of Menkes' disease. (Kinky hair disease).门克斯病（卷发疾病）的眼部病理学。

Arch Ophthalmol. 1968 Dec;80(6):718-20. doi: 10.1001/archopht.1968.00980050720007.

6

Radiological findings in the kinky-hair syndrome.卷发综合征的放射学表现。

Radiology. 1969 Mar;92(3):500-6. doi: 10.1148/92.3.500.

7

Kinky hair syndrome. A new case and a review.卷发综合征。1例新病例及文献综述。

Am J Dis Child. 1971 May;121(5):447-9. doi: 10.1001/archpedi.1971.02100160117021.

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Trichopoliodystrophy. I. Report of a case and biochemical studies.毛发硫营养不良。I. 一例报告及生化研究

Arch Neurol. 1972 Mar;26(3):229-44. doi: 10.1001/archneur.1972.00490090055004.

9

Menkes's kinky hair syndrome. An inherited defect in copper absorption with widespread effects.门克斯卷发综合征。一种遗传性铜吸收缺陷病，具有广泛影响。

Pediatrics. 1972 Aug;50(2):188-201.

10

Tay-Sachs disease: neurophysiological studies in 20 children.泰-萨克斯病：20名儿童的神经生理学研究

Dev Med Child Neurol. 1974 Apr;16(2):201-8. doi: 10.1111/j.1469-8749.1974.tb02743.x.

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