SCHEIE SYNDROME - A DIFFICULT DIFFERENTIAL-DIAGNOSIS WITH JUVENILE CHRONIC ARTHRITIS

被引：0

作者：

CIMAZ, R ^{[1
]}

CORONA, F ^{[1
]}

COHEN, E ^{[1
]}

BARDARE, M ^{[1
]}

机构：

[1] UNIV MILAN,PEDIAT CLIN 1,I-20122 MILAN,ITALY

来源：

RIVISTA ITALIANA DI PEDIATRIA-ITALIAN JOURNAL OF PEDIATRICS | 1992年 / 18卷 / 06期

关键词：

MUCHOPOLYSACCHARIDOSIS; SCHEIE SYNDROME; JUVENILE CHRONIC ARTHRITIS;

D O I：

暂无

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Differential diagnosis of polyarticular juvenile chronic arthritis includes a number of different causes, including metabolic defects. We describe a 7-yr old patient, previously diagnosed as having JCA, affected by mucopolysaccharidosis type I S (Scheie syndrome). This syndrome has major osteaoarticular involvement, with hands impairment and stiff joints as prominent features. Diagnosis is made by specific enzyme dosages; as for now no definite treatment is available.

引用

页码：677 / 679

页数：3

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