两例以中风为表现的瓜氨酸血症病例。

Two cases of citrullinaemia presenting with stroke.

作者信息

Choi J H, Kim H, Yoo H W

机构信息

Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

出版信息

J Inherit Metab Dis. 2006 Feb;29(1):182-3. doi: 10.1007/s10545-006-0194-2.

DOI:10.1007/s10545-006-0194-2

PMID:16601887

Abstract

Urea cycle disorders are known to be unusual causes of stroke. We report two infant cases of citrullinaemia that both initially presented with a stroke and suggest that urea cycle disorders should be included in the differential diagnosis of unexplained stroke during infancy and childhood.

摘要

已知尿素循环障碍是中风的罕见病因。我们报告了两例瓜氨酸血症婴儿病例，这两个病例最初均表现为中风，并提示在婴幼儿和儿童不明原因中风的鉴别诊断中应考虑尿素循环障碍。