Enjolras O, Lessana-Leibowitch M, Hewitt J, Enjolras M, Debray H, Kazandjian S, Le Charpentier Y
Ann Dermatol Venereol. 1978 May;105(5):493-8.
The authors report the sixth case of Menkes' kinky hair disease. This boy has been observed for as long as 16 months, and he his still alive at the time of publication. This genetic, X linked disorder of copper metabolism is always fatal in childhood. Diagnosis is evoked when is noted the conjunction of progressive cerebral degeneration, seizures, with pili torti and monilethrix. It can be asserted with the very low copper and cerulo-plasmin blood levels. Recognition of the disease in utero might be possible. New findings in skin' electron microscopy and hair' scanning electron microscopy are reported here. And two RX scanner of the brain have been performed.
作者报告了第六例门克斯卷发综合征病例。该男孩已被观察长达16个月，在发表本文时仍然存活。这种遗传性X连锁铜代谢紊乱在儿童期通常是致命的。当出现进行性脑退化、癫痫发作，伴有扭曲发和念珠状发时，可引发诊断。通过极低的血液铜和铜蓝蛋白水平可以确诊。在子宫内识别该疾病或许是有可能的。本文报告了皮肤电子显微镜和头发扫描电子显微镜的新发现。并且已经对脑部进行了两次X线扫描。
