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门克斯卷发综合征:接受组氨酸铜治疗患者的放射学表现

Menkes' kinky-hair disease: radiologic findings in a patient treated with copper histidinate.

作者信息

Waslen T A, Houston C S, Tchang S

机构信息

Royal University Hospital, Saskatoon, Sask.

出版信息

Can Assoc Radiol J. 1995 Apr;46(2):114-7.

PMID:7704673
Abstract

A patient with Menkes' kinky-hair disease was treated from an early age with copper histidinate. This patient did not display the progressive mental deterioration and early death typical of patients with Menkes' disease; on the contrary, his intellectual capabilities were above average for his age. The magnetic resonance imaging findings were unique, showing some tortuosity and elongation of the arteries but no evidence of cerebral atrophy, demyelination or subdural hygromas.

摘要

一名患有门克斯卷发综合征的患者从小就接受组氨酸铜治疗。该患者并未表现出门克斯病患者典型的进行性智力衰退和早亡;相反,他的智力水平高于同龄人平均水平。磁共振成像结果独特,显示动脉有一些迂曲和延长,但没有脑萎缩、脱髓鞘或硬膜下积液的迹象。

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