外周和中枢髓鞘形成减少伴促性腺激素缺乏性性腺功能减退和牙发育不全。
Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia.
作者信息
Timmons M, Tsokos M, Asab M Abu, Seminara S B, Zirzow G C, Kaneski C R, Heiss J D, van der Knaap M S, Vanier M T, Schiffmann R, Wong K
机构信息
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-1260, USA.
出版信息
Neurology. 2006 Dec 12;67(11):2066-9. doi: 10.1212/01.wnl.0000247666.28904.35.
Abstract
We identified four unrelated patients (three female, one male) aged 20 to 30 years with hypomyelination, pituitary hypogonadotropic hypogonadism, and hypodontia. Electron microscopy and myelin protein immunohistochemistry of sural nerves showed granular debris-lined clefts, expanded abaxonal space, outpocketing with vacuolar disruption, and loss of normal myelin periodicity. Reduced galactocerebroside, sphingomyelin, and GM1-N-acetylglucosamine and increased esterified cholesterol were found. This is a clinically homogeneous progressive hypomyelinating disorder. The term 4H syndrome is suggested.
摘要
我们确定了4名年龄在20至30岁之间的无亲缘关系患者（3名女性，1名男性），他们患有髓鞘形成低下、垂体促性腺激素缺乏性性腺功能减退和牙发育不全。腓肠神经的电子显微镜检查和髓鞘蛋白免疫组织化学显示，有颗粒状碎片排列的裂隙、轴突外间隙扩大、有空泡破坏的袋状突出以及正常髓鞘周期性的丧失。发现半乳糖脑苷脂、鞘磷脂和GM1-N-乙酰葡糖胺减少，酯化胆固醇增加。这是一种临床上具有同质性的进行性髓鞘形成低下疾病。建议使用4H综合征这一术语。
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