Nephrotic syndrome, hypertension, and adrenal failure in atypical Cockayne syndrome

被引：12

作者：

Reiss, U ^{[1
]}

Hofweber, K ^{[1
]}

Herterich, R ^{[1
]}

Waldherr, R ^{[1
]}

Bohnert, E ^{[1
]}

Jung, E ^{[1
]}

Scharer, K ^{[1
]}

机构：

[1] UNIV HEIDELBERG,DEPT PEDIAT,HEIDELBERG,GERMANY

来源：

PEDIATRIC NEPHROLOGY | 1996年 / 10卷 / 05期

关键词：

Cockayne syndrome; nephrotic syndrome; focal glomerulosclerosis; adrenocortical failure; leukodystrophy;

D O I：

10.1007/s004670050170

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

This report describes a boy with an atypical severe form of Cockayne syndrome type II manifesting in infancy. He developed nephrotic syndrome at the age of 4.7 years and a hypertensive crisis with hemiparesis at 5.4 years. Renal biopsy revealed focal segmental glomerulosclerosis, which was confirmed at autopsy. Adrenocortical failure was also present. The course was characterized by frequent infections and an episode of myocarditis. The boy died at the age of 6.0 years after rapid neurological deterioration accompanied by renal insufficiency. Autopsy disclosed cerebral leukodystrophy compatible with Cockayne syndrome.

引用

页码：602 / 605

页数：4

共 23 条

[1] MRI IN COCKAYNE SYNDROME TYPE-I [J].