CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME - MULTIPLE ABNORMALITIES AND DIAGNOSTIC DELAY

被引：31

作者：

HUTCHESSON, ACJ

GRAY, RGF

SPENCER, DA

KEIR, G

机构：

[1] BIRMINGHAM CHILDRENS HOSP,DEPT CLIN CHEM,BIRMINGHAM,W MIDLANDS,ENGLAND

[2] BIRMINGHAM CHILDRENS HOSP,DEPT CHEST MED,BIRMINGHAM,W MIDLANDS,ENGLAND

[3] NEUROL INST,DEPT NEUROIMMUNOL,LONDON,ENGLAND

来源：

ARCHIVES OF DISEASE IN CHILDHOOD | 1995年 / 72卷 / 05期

关键词：

CARBOHYDRATE DEFICIENT GLYCOPROTEIN SYNDROME; THYROID STIMULATING HORMONE; SENSORINEURAL DEAFNESS;

D O I：

10.1136/adc.72.5.445

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A 3 week old boy presented with abnormal thyroid function, and was-treated with thyroxine. He developed multisystem disease including deafness and nephrotic syndrome, and died aged 3 months. Carbohydrate deficient glycoprotein syndrome (CDGS) was diagnosed postmortem. CDGS should be considered in all infants with apparently unrelated multiple clinical or biochemical abnormalities.

引用

页码：445 / 446

页数：2

共 6 条

[1] HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY IN A NEONATE WITH THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME [J].