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[门克斯病。病例报告(作者译)]

[Menke's disease. A case report (author's transl)].

作者信息

Castroviejo I P, Alonso Blanco M, Benito Casado C, Escobar H, Ciria Latre E

出版信息

An Esp Pediatr. 1977 Feb;10(2):205-14.

PMID:559462
Abstract

A seven month old male with Menkes' disease ("Kinky hair") is presented. Low ranges of copper and caeruloplasmin were found. The angiogram of all intracranial arteries revealed torturous form. Biopsy of an extracranial artery (branch of the temporal artery) was normal. Authors review previously reported cases and possible causes that can contribute to hypomyelination of central nervous system.

摘要

本文报告了一名患有门克斯病(“卷曲发”)的7个月大男性。发现其铜和铜蓝蛋白水平较低。所有颅内动脉的血管造影显示呈迂曲形态。颅外动脉(颞动脉分支)活检正常。作者回顾了先前报道的病例以及可能导致中枢神经系统髓鞘形成减少的原因。

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