Homocystinuria presenting with portal vein thrombosis and pancreatic pseudocyst: a case report

被引：8

作者：

Hong, HS

Lee, HK

Kwon, KH

机构：

[1] Department of Radiology, College of Medicine, Soonchunhyang University Hospital, Yongsan Gu, Seoul 140-743

来源：

PEDIATRIC RADIOLOGY | 1997年 / 27卷 / 10期

关键词：

Portal Vein; Metabolic Disease; Vascular Disease; Mental Retardation; Thromboembolic Event;

D O I：

10.1007/s002470050237

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Homocystinuria is a rare, inherited metabolic disease frequently associated with severe multisystemic involvement such as dislocated lenses, skeletal deformities, mental retardation, and premature vascular occlusion. Arterial and venous thromboembolic events present frequent and life-threatening complications in homocystinuric patients. It has been suggested that mild homocystinemia would be a risk factor for vascular disease. We report a 10-year-old girl with homocystinuria who developed portal vein thrombosis, liver infarction, and pancreatic pseudocyst due to pancreatitis. Possible pathophysiologic mechanisms and suggested treatment are described.

引用

页码：802 / 804

页数：3

共 5 条

[1] IMPAIRED ENDOTHELIAL FUNCTION OCCURS IN THE SYSTEMIC ARTERIES OF CHILDREN WITH HOMOZYGOUS HOMOCYSTINURIA BUT NOT IN THEIR HETEROZYGOUS PARENTS [J].