PRIAPISM AND FABRY DISEASE - A CASE-REPORT

被引：7

作者：

GARCIACONSUEGRA, J

PADRON, M

JAUREGUIZAR, E

CARRASCOSA, C

RAMOS, J

机构：

[1] HOSP INFANTIL LA PAZ,DEPT PATHOL,E-28046 MADRID,SPAIN

[2] HOSP INFANTIL LA PAZ,DEPT PAEDIAT SURG,E-28046 MADRID,SPAIN

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1990年 / 149卷 / 07期

关键词：

Alpha-galactosidase A deficiency; Cutaneous angiokeratomas; Fabry disease; Priapism;

D O I：

10.1007/BF01959404

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A 10-year-old boy presented with priapism of 10h duration which after unsuccessful conservative measures, was relieved by a saphenocorporeal shunt. A4-year history of intermittent vague aching of fingers and toes accompanied by lowgrade fever was reported. Fabry disease was confirmed by the lack α-galactosidase acitivity in serum and leucocytes. Other characteristic features of Fabry disease were not present. The condition was also diagnosed in his 14-year-old brother and suspected in his maternal grandfather who died at the age of 49 from renal failure of unknown aetiology. © 1990 Springer-Verlag.

引用

页码：500 / 501

页数：2