Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

被引：82

作者：

Timmons, M.

Tsokos, M.

Abu Asab, M.

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：

[1] NINDS, Dev & Metab Neurol Branch, NIH, Bethesda, MD 20892 USA

[2] NINDS, Surg Neurol Branch, NIH, Bethesda, MD 20892 USA

[3] NCI, Pathol Lab, NIH, Bethesda, MD 20892 USA

[4] Massachusetts Gen Hosp, Reprod Endocrine Unit, Boston, MA 02114 USA

[5] Harvard Univ, Sch Med, Boston, MA 02115 USA

[6] Vrije Univ Amsterdam, Dept Child Neurol, Med Ctr, NL-1081 HV Amsterdam, Netherlands

[7] Lyon Sud Univ Hosp, Lyon Sud Med Sch, Pierre Benite, France

[8] Lyon Sud Univ Hosp, Fdn Gillet Merieux, Pierre Benite, France

[9] Wilford Hall USAF Med Ctr, Div Neuropathol, San Antonio, TX 78236 USA

来源：

NEUROLOGY | 2006年 / 67卷 / 11期

关键词：

D O I：

10.1212/01.wnl.0000247666.28904.35

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：2066 / 2069

页数：4

共 11 条

[1] Expression of steroidogenic acute regulatory protein in cultured Schwann cells and its regulation by cAMP [J].