KINKY HAIR DISEASE .I. CLINICAL AND PATHOLOGICAL FEATURES
KINKY HAIR DISEASE .I. CLINICAL AND PATHOLOGICAL FEATURES
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DOI：
10.1097/00005072-196610000-00001
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发表时间：
1966-01-01
影响因子：
3.2
通讯作者：
OKUYAMA, K
中科院分区：
文献类型：
--
作者：
AGUILAR, MJ;CHADWICK, DL;OKUYAMA, K
一个有9个兄弟姐妹的家庭包括6个男孩，来自两个不同的父亲，他们都在生命早期表现出严重的进行性神经缺陷，并伴有生长和精神发育迟缓和头发异常。两例尸检显示相同的病理特征，包括带有念珠线菌毛的Torti和严重的中枢神经系统退行性改变。对这些异常组织的详细研究，包括生化分析的结果(见第二部分)表明，一种特定的基因决定的代谢缺陷，导致大脑灰质脂肪酸组成的异常，已经表现为一种独特的综合征，我们称之为卷毛病。
A family of 9 siblings included 6 boys, by 2 different fathers, all of whom demonstrated early in life profound and progressive neurological defects, together with retardation of growth and mentation and abnormal hair. Two autopsied cases showed identical pathological features, including pili torti with monilethrix and severe degenerative changes in the central nervous system. Detailed studies of these abnormal tissues, including the results of biochemical analysis (reported in part 2), has suggested that a specific genetically determined metabolic defect, leading to an aberration in fatty acid composition of the gray matter of the brain, has manifested itself as a distinct syndrome, which we have called kinky hair disease.