CONGENITAL ADRENAL HYPOPLASIA AND MYOPATHY

被引：0

作者：

PIETSCHNIG, B

KOHLHAUSER, C

BITTNER, RE

AMANN, G

DOBNER, M

GRATZL, R

机构：

[1] UNIV VIENNA,INST KLIN PATHOL,A-1090 VIENNA,AUSTRIA

[2] UNIV VIENNA,INST ANAT,A-1090 VIENNA,AUSTRIA

来源：

WIENER KLINISCHE WOCHENSCHRIFT | 1995年 / 107卷 / 04期

关键词：

CONGENITAL ADRENAL HYPOPLASIA; MYOPATHY;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We report a rare case of a female newborn presenting with muscular hypotonia, pneumonia, and cardiovascular and renal insufficiency. Adrenal insufficiency was diagnosed clinically and proven by extremely low cortisone (0.4-0.8 mug/dl) and high ACTH plasma levels. Myopathy was diagnosed clinically, as well as by muscular biopsy. DNA analysis of both X chromosomes showed no abnormality in the region of the genes for adrenal hypoplasia and Duchenne muscular dystrophy. After 4 weeks of intensive care therapy the patient died of multiorgan failure. At autopsy she had only microscopically visible fetal adrenal cells and multiple porencephalic lesions.

引用

页码：149 / 152

页数：4

共 11 条

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