ADRENOMYELONEUROPATHY - REPORT ON A FAMILY

被引：2

作者：

HOLMBERG, BH

HAGG, E

HAGENFELDT, L

机构：

[1] HUDDINGE UNIV HOSP,KAROLINSKA INST,DEPT CLIN CHEM 1,S-14186 HUDDINGE,SWEDEN

[2] UMEA UNIV HOSP,DEPT INTERNAL MED,S-90185 UMEA,SWEDEN

来源：

JOURNAL OF INTERNAL MEDICINE | 1991年 / 230卷 / 06期

关键词：

ADRENOLEUKODYSTROPHY; ADRENOMYELONEUROPATHY;

D O I：

10.1111/j.1365-2796.1991.tb00485.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A family is reported in which there is one case of adrenomyeloneuropathy, one case of Addison's disease and at least three heterozygous females with spastic paraparesis and peripheral neuropathy. Adrenomyeloneuropathy has not been reported previously in Scandinavia. The differences in the clinical picture between the sexes and at different ages are emphasized. Elevation of the levels of very-long-chain fatty acids in plasma is a characteristic feature of the disease and confirms the diagnosis. Some recent reports in the literature seem to provide some hope that the clinical manifestations of adrenomyeloneuropathy/adrenoleukodystrophy may be prevented.

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收藏

页码：535 / 538

页数：4

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