门克斯病的脑电图表现谱。

Spectrum of EEG findings in Menkes disease.

作者信息

White S R, Reese K, Sato S, Kaler S G

机构信息

EEG Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892.

出版信息

Electroencephalogr Clin Neurophysiol. 1993 Jul;87(1):57-61. doi: 10.1016/0013-4694(93)90175-u.

DOI:10.1016/0013-4694(93)90175-u

PMID:7687955

Abstract

We evaluated electroencephalograms (EEGs) in 10 boys with Menkes disease, ranging in age from 9 days to 27 months. Three of 10 tracings were normal (the newborn, his 27-month-old half-brother with the classic phenotype, and a 27-month-old mildly affected patient). Plasma copper levels were low in all patients except the newborn and tended to be lowest in patients whose EEGs were moderately or severely abnormal. EEG differences in Menkes patients could reflect biochemical and molecular heterogeneity with respect to copper availability and utilization in the brain.

摘要

我们评估了10名患有门克斯病的男孩的脑电图（EEG），年龄从9天到27个月不等。10份脑电图记录中有3份是正常的（新生儿、其患有典型表型的27个月大的同父异母兄弟以及一名27个月大的轻度受影响患者）。除新生儿外，所有患者的血浆铜水平均较低，且脑电图中度或重度异常的患者血浆铜水平往往最低。门克斯病患者的脑电图差异可能反映了大脑中铜的可用性和利用方面的生化和分子异质性。